Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FHL1 Gene

protein-coding GIFtS: 63
GCID: GC0XP135229

four and a half LIM domains 1

Explore 25 diseases affiliated with
FHL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Four And A Half LIM Domains 1¹ ²		KYOT² ⁵
SLIM1¹ ² ³ ⁵		KYO-T¹
FHL1B¹ ² ⁵		MGC111107¹
XMPMA¹ ² ⁵		BA535K18.1¹
FLH1A¹ ²		SLIMMER²
Skeletal Muscle LIM-Protein 1² ³		Four And A Half LIM Domains Protein 1²
FHL-1² ³		Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 1²
SLIM² ³		LIM Protein SLIMMER²
SLIM-1² ³		Skeletal Muscle LIM-Protein1²
FHL1A² ⁵

External Ids:	HGNC: 3702¹	Entrez Gene: 2273²	Ensembl: ENSG00000022267⁷	OMIM: 300163⁵	UniProtKB: Q13642³

ORGUL members:
	NONCODE:n407932

Export aliases for FHL1 gene to outside databases

Previous GC identifers: GC0XP129801 GC0XP132075 GC0XP133174 GC0XP133935 GC0XP134955 GC0XP135057 GC0XP124502

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FHL1:

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved,

tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger.

Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many

cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy.

Multiple alternately spliced transcript variants which encode different protein isoforms have been described.(provided

by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642

Function: May have an involvement in muscle development or hypertrophy

Gene Wiki entry for FHL1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FHL1 gene promoter:
TBP TFIID AP-2beta MyoD AP-2gamma AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FHL1 promoter sequence

Search SABiosciences Chromatin IP Primers for FHL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FHL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq26 Ensembl cytogenetic band: Xq26.3 HGNC cytogenetic band: Xq26.3

FHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FHL1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP135229: view genomic region (about GC identifiers)

Start:	135,228,861 bp from pter	End:	135,293,518 bp from pter
Size:	64,658 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642 (See protein sequence)

Recommended Name: Four and a half LIM domains protein 1

Size: 323 amino acids; 36263 Da

Subcellular location: Isoform 1: Cytoplasm

Subcellular location: Isoform 3: Cytoplasm. Nucleus

Subcellular location: Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic

in differentiated myotubes

Developmental stage: Elevated levels during postnatal muscle growth

Sequence caution: Sequence=AAH88369.1; Type=Erroneous initiation; Sequence=CAI41055.1; Type=Erroneous initiation;

4 PDB 3D structures from and Proteopedia for FHL1:

1X63 (3D)

2CUP (3D)

2CUR (3D)

2EGQ (3D)

Secondary accessions: B7Z5T4 B7Z793 O95212 Q13230 Q13645 Q5JXI7 Q5M7Y6 Q6IB30 Q9NZ40 Q9UKZ8 Q9Y630

Alternative splicing: 5 isoforms: Q13642-2 Q13642-1 Q13642-3 Q13642-4 Q13642-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FHL1: NX_Q13642

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13642

FHL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (8 alternative transcripts):

NP_001153171.1 NP_001153172.1 NP_001153173.1 NP_001153174.1 NP_001153175.1 NP_001153176.1 NP_001161291.1 NP_001440.2

ENSEMBL proteins:

ENSP00000359724 ENSP00000391779 ENSP00000389920 ENSP00000408038 ENSP00000413798

ENSP00000412642 ENSP00000414604 ENSP00000071281 ENSP00000359717 ENSP00000359710

ENSP00000359708 ENSP00000437673 ENSP00000444815 ENSP00000443333 ENSP00000377709

ENSP00000377710

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 3): FHL1 OriGene Protein Over-expression Lysate (see all 6): FHL1 OriGene Custom Protein Services for FHL1
	GenScript Custom Purified and Recombinant Proteins Services for FHL1
	Novus Biologicals FHL1 Proteins Novus Biologicals FHL1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FHL1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	IEA	--
GO:0005886	plasma membrane	IDA	--

FHL1 for ontologies About GeneDecksing

FHL1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for FHL1
	OriGene Antibodies (see all 8): FHL1 OriGene Custom Antibody Services for FHL1
	GenScript Custom Superior Antibodies Services for FHL1
	Novus Biologicals FHL1 Antibodies
	Abcam antibodies for FHL1
	Uscn Antibodies for FHL1
	ThermoFisher Antibodies for FHL1

Assay Products for FHL1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FHL1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FHL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FHL1 for domains About GeneDecksing

1 InterPro domain/family:

IPR001781 Znf_LIM

Graphical View of Domain Structure for InterPro Entry Q13642

ProtoNet protein and cluster: Q13642

1 Blocks protein family: IPB001781 Zn-binding protein

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642

Similarity: Contains 3 LIM zinc-binding domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642

Function: May have an involvement in muscle development or hypertrophy

Genatlas biochemistry entry for FHL1:

four and a half LIM domain protein 1,expressed in skeletal muscle, heart and other tissues,with an alternatively

spliced form FHL1B,FHL1B differing from FHL1 by the bipartite nuclear localization signal (NLS) and a possible RBP-J

binding region at the C terminus,with isoforms FHL1,FHL1B,(SLIM1) localizing at focal adhesions and SLIM3 (slimmer) in

the nucleus of myoblasts and cytoplasm of myotubes,sugesting distinct roles in the cytoskeleton and in

nuclear-cytoplasmic communication,specifically expressed in the brain,localized in the nucleus and probably related to

neural differentiation and certain fragile X syndrome.

miRNA Products:		OriGene 3'-UTR Clone (see all 7): FHL1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FHL1
		8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate FHL1 (see all 27):
		hsa-miR-194* hsa-miR-100* hsa-miR-3607-3p hsa-miR-429 hsa-miR-1197 hsa-miR-509-5p hsa-miR-1205 hsa-miR-339-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FHL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FHL1 (see all 7) OriGene shRNA RFP: FHL1 OriGene siRNA: FHL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FHL1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for FHL1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1 (see all 14) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1 (see all 8) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): FHL1 (NM_001449)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FHL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHL1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FHL1
		Search LifeMap BioReagents cell lines for FHL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHL1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	19401155
GO:0008270	zinc ion binding	IEA	--
GO:0044325	ion channel binding	IPI	18281375

FHL1 for ontologies About GeneDecksing

Animal Models:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fhl1):

behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism	nervous system
other	vision/eye

FHL1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Notch Signaling Pathway

Delta-Notch Signaling Pathway

0.27

1 BioSystems Pathway for FHL1

Delta-Notch Signaling Pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FHL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/35 Interacting proteins for FHL1 (Q13642^{1, 2, 3} ENSP00000359724⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TXNIP	Q9H3M7²^,³, ENSP00000358323⁴	MINT-8255437 I2D: score=2 STRING: ENSP00000358323
DBN1	Q16643²^,³	MINT-8255377 I2D: score=2
DEAF1	O75398²^,³	MINT-8255388 I2D: score=2
EED	O75530²^,³	MINT-8255401 I2D: score=2
HES1	Q14469²^,³	MINT-8255415 I2D: score=2

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003254	regulation of membrane depolarization	IDA	18281375
GO:0007517	muscle organ development	NAS	7626119
GO:0009887	organ morphogenesis	NAS	7626119
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	IDA	--
GO:0030154	cell differentiation	IEA	--

FHL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FHL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FHL1
2 Novoseek chemical compound relationships for FHL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	41	6	9714789 (2), 19181672 (1), 8753811 (1), 10524257 (1)
atp	0	1	16100062 (1)

Search CenterWatch for drugs/clinical trials and news about FHL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FHL1 gene (8 alternative transcripts):

NM_001159699.1 NM_001159700.1 NM_001159701.1 NM_001159702.2 NM_001159703.1 NM_001159704.1 NM_001167819.1 NM_001449.4

Unigene Cluster for FHL1:

Four and a half LIM domains 1

Hs.435369 [show with all ESTs]

Unigene Representative Sequence: NM_001159704

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000370690 ENST00000420362 ENST00000458357 ENST00000452016 ENST00000434885

ENST00000456445 ENST00000449474 ENST00000345434 ENST00000370683(uc011mwb.1 uc004ezp.2)

ENST00000370676 ENST00000477204 ENST00000370674 ENST00000477080 ENST00000539015(uc011mwa.1 uc004ezr.2)

ENST00000535737(uc011mvy.1) ENST00000543669(uc004ezn.2) ENST00000394153(uc010nrz.2 uc022ceu.1)

ENST00000394155(uc004ezo.3 uc004ezm.2 uc004ezl.2 uc004ezq.2)

miRNA Products:		OriGene 3'-UTR Clone (see all 7): FHL1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FHL1
		8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate FHL1 (see all 27):
		hsa-miR-194* hsa-miR-100* hsa-miR-3607-3p hsa-miR-429 hsa-miR-1197 hsa-miR-509-5p hsa-miR-1205 hsa-miR-339-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FHL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FHL1 (see all 7) OriGene shRNA RFP: FHL1 OriGene siRNA: FHL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FHL1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1 (see all 14) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1 (see all 8) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): FHL1 (NM_001449)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FHL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHL1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FHL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FHL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FHL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FHL1

Additional cDNA sequence:

AF063002.1 AF098518.1 AF220153.1 AK091702.1 AK094024.1 AK122708.1 AK223299.1 AK289411.1

AK297124.1 AK299379.1 AK299381.1 AK299450.1 AK300966.1 AK301642.1 AK304680.1 BC010998.2

BC088369.1 CR456974.1 NR_027621.1 U29538.1 U60115.1 U60118.1

24/58 DOTS entries (see all 58):

DT.95269474 DT.448206 DT.95269469 DT.99951140 DT.99963333 DT.100886590 DT.100765946 DT.121319845

DT.100886585 DT.101985306 DT.100886595 DT.100886591 DT.121319872 DT.121319900 DT.100886594 DT.100886596

DT.100886604 DT.100042169 DT.100662903 DT.75124818 DT.95269473 DT.95291724 DT.100886601 DT.95269455

24/732 AceView cDNA sequences (see all 732):

U29538 AI080025 BM699940 BP340987 BM697131 AA665830 BQ182446 AI362282

AK094024 BQ933784 BP344719 T32638 N29900 BF934621 BP341022 AI653552

BQ574026 BQ004270 CF593556 AA039540 BU186985 AA086422 N45005 AI028105

GeneLoc Exon Structure

5/39 Alternative Splicing Database (ASD) splice patterns (SP) for FHL1 (see all 39) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	·	12c	·	12d	·	12e	·	12f	^	13	^	14a	·
SP1:																																																	-		-
SP2:									-		-		-		-		-		-		-		-		-		-		-		-		-		-		-												-		-
SP3:																							-		-		-		-		-		-		-		-												-		-
SP4:																															-		-		-		-												-		-
SP5:																																																	-		-

ExUns:	14b	·	14c	·	14d	^	15	^	16a	·	16b	^	17a	·	17b	·	17c	·	17d	·	17e	^	18	^	19a	·	19b	·	19c	·	19d	^	20a	·	20b	·	20c	·	20d	^	21	^	22a	·	22b	^	23a	·	23b	·	23c	·
SP1:	-		-		-		-																														-		-		-
SP2:	-		-		-		-																														-		-		-
SP3:	-		-		-		-																														-		-		-
SP4:	-		-		-		-																														-		-		-
SP5:	-		-		-		-																														-		-		-

ExUns:	23d	^	24	^	25a	·	25b	^	26a	·	26b	·	26c	·	26d	·	26e	·	26f	^	27a	·	27b	·	27c	^	28a	·	28b	·	28c	·	28d	·	28e
SP1:																					-
SP2:																					-		-		-
SP3:
SP4:
SP5:																					-		-		-

ECgene alternative splicing isoforms for FHL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FHL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATGACAAT

About this image

FHL1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Head Mesenchyme

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

White adipocyte-like cells (Differentiation of ...)

Adipose

Mature follicles (In-vitro growth and ...)

See FHL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FHL1

SOURCE GeneReport for Unigene cluster: Hs.435369

UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642

Tissue specificity: Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary,

prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney,

pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser

extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Array including FHL1:

Cardiotoxicity in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FHL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FHL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FHL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FHL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FHL1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC770787¹	four and a half LIM domains protein 1-like	74.97(n) 70.93(a)		770787 XM_001234113.2 XP_001234114.2
lizard (Anolis carolinensis)	Reptilia	FHL1⁶	--	62(a)	1 ↔ 1	GL343562.1(11374-17607)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1950²	Xenopus laevis transcribed sequence with moderate similarity more	77.11(n)		CB201255.2
zebrafish (Danio rerio)	Actinopterygii	fhl²	four and a half LIM domains	73.34(n)		387528 BC053279.1
fruit fly (Drosophila melanogaster)	Insecta	CG31988⁶ CG30178⁶ (see all 4)	--	25(a) 25(a) (see all 4)	possible ortholog possible ortholog (see all 4)	2L(21201535-21202742) 2R(19874197-19874832)

ENSEMBL Gene Tree for FHL1 (if available)
TreeFam Gene Tree for FHL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FHL1 gene

ABLIM3² LIMS1² LIMS3L² FHL5² LDB3² LPXN² ABLIM2² PDLIM5²

ENSG00000257207² LIMS2² FHL2² ABLIM1² PDLIM7² EPB49² FHL3² TGFB1I1²

LIMS3² PXN²

10 SIMAP similar genes for FHL1 using alignment to 8 protein entries: FHL1_HUMAN (see all proteins):

AAG11 FHL2 FHL5 DKFZp686P2249 FHL3 LHX4

LHX1 PRICKLE2 LMO3 FBLIM1

FHL1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FHL1
PGOHUM00000237858

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112108838^1,2	C,	--	124522797(+)	`CGTACG/CTCCTT`	2	--	us2k¹		1		CSA	1
rs192406260^1,2		--	135226957(+)	`TGGCTA/GTTTCT`	1	--	us2k¹		0	--	--	--	--
rs182976942^1,2		--	135227128(+)	`TCAGTG/TCTTCT`	1	--	us2k¹		0	--	--	--	--
rs187561502^1,2		--	135227148(+)	`GAAGGA/GGAAAA`	1	--	us2k¹		0	--	--	--	--
rs192999619^1,2		--	135227204(+)	`GTAAGC/TGCTTA`	1	--	us2k¹		0	--	--	--	--
rs184552341^1,2		--	135227285(+)	`GATCTA/GTTTGC`	1	--	us2k¹		0	--	--	--	--
rs112647023^1,2	C,	--	135227513(+)	`ACTGTG/TGACCA`	1	--	us2k¹		1		CSA	1
rs725584^1,2	C,F,O,A,H,	--	135227615(+)	`TTACAT/CTGGAA`	4	--	us2k¹		24		MN NS EA NA WA	2598
rs190285022^1,2		--	135227686(+)	`CCCTGG/TTCCAT`	4	--	us2k¹		0	--	--	--	--
rs202118495^1,2		--	135227763(+)	`ATTGA-/GGAAAG`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FHL1 (135228861 - 135293518 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FHL1: --
Human Gene Mutation Database (HGMD): FHL1

Locus Specific Mutation Databases (LSDB): FHL1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FHL1

DNA2.0 Custom Variant and Variant Library Synthesis for FHL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FHL1 for disorders           About GeneDecksing

OMIM gene information: 300163
OMIM disorders: 300695  300696  300717  300718
UniProtKB/Swiss-Prot: FHL1_HUMAN, Q13642

Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695].

Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme

hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier

and more severely than distal arm. The etiology of this condition remains unclear

Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696].

Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and

several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked

recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic

phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable

from other myopathies

Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]. RBM is

a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in

myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases

Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:300718]. This

disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:300717]

20/25 diseases for FHL1 (see all 25): About MalaCards

emery-dreifuss muscular dystrophy muscular dystrophy x-linked dominant scapuloperoneal myopathy tick-borne relapsing fever

rigid spine syndrome talipes equinovarus relapsing fever fragile x syndrome

myofibrillar myopathy myopathy beriberi atrial fibrillation

hypertrophic cardiomyopathy muscle disorders lyme disease clubfoot

pulmonary hypertension polycythemia cardiomyopathy hypertension

1 disease from the University of Copenhagen DISEASES database for FHL1:

Beriberi

2 Novoseek disease relationships for FHL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myopathy	52.4	2	19181672 (3), 19075112 (3), 18179901 (2), 18952429 (1) (see all 7)
hypertrophy	30.5	3	19687455 (1), 10860860 (1), 19075112 (1)

Human Genome Epidemiology (HuGE) Navigator: FHL1 (208 documents)

Export disorders for FHL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FHL1 gene, integrated from 9 sources (see all 89):
(articles sorted by number of sources associating them with FHL1)

Utopia: connect your pdf to the dynamic
world of online information

Chromosomal mapping, tissue distribution and cDNA sequence of four- and-a-half LIM domain protein 1 (FHL1). (PubMed id 9714789)^{1, 2, 3, 9} Lee S.M.Y.... Lee C.Y. (1998)
Slim defines a novel family of LIM-proteins expressed in skeletal muscle. (PubMed id 8753811)^{1, 2, 3, 9} Morgan M.J. and Madgwick A.J.A. (1996)
Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1. (PubMed id 10524257)^{1, 2, 9} Lee S.M.Y.... Lee C.-Y. (1999)
Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1). (PubMed id 11400158)^{1, 2, 9} Ng E.K.O.... Fung K.-P. (2001)
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. (PubMed id 18274675)^{1, 2, 9} Schessl J.... Boennemann C.G. (2008)
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (PubMed id 18179901)^{1, 2, 9} Quinzii C.M.... Hirano M. (2008)
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. (PubMed id 18179888)^{1, 2} Windpassinger C.... Quasthoff S. (2008)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2273	HGNC: 3702	AceView: FHL1	Ensembl:ENSG00000022267	euGenes: HUgn2273
ECgene: FHL1	H-InvDB: FHL1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FHL1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FHL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FHL1 gene:
Search GeneIP for patents involving FHL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Antibodies for FHL1 (FHL1)		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for FHL1		OriGene shRNA RFP for FHL1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FHL1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FHL1
	OriGene Protein Over-expression Lysate for FHL1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for FHL1		OriGene 3'-UTR Clone for FHL1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FHL1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for FHL1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for FHL1		OriGene Custom Protein Services for FHL1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FHL1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FHL1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FHL1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FHL1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FHL1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FHL1

	GenScript Custom Purified and Recombinant Proteins Services for FHL1		GenScript cDNA clones with any tag delivered in your preferred vector for FHL1
	GenScript Custom Assay Services for FHL1		GenScript Custom Superior Antibodies Services for FHL1
	GenScript Custom overexpressing Cell Line Services for FHL1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in FHL1 promoter
	Search Chromatin IP Primers for FHL1
	RT² qPCR Primer Assay in human, mouse, rat FHL1
	GNC Network for FHL1
	SABiosciences PCR Arrays including human, mouse, rat FHL1

Search Tocris compounds for FHL1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	FHL1 antibodies
	FHL1 proteins
	FHL1 lysates

	Antibodies for FHL1
	See all of Abcam's Antibodies, Kits and Proteins for FHL1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

FHL1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for FHL1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHL1

	SwitchGear 3'UTR luciferase reporter plasmids for FHL1
	SwitchGear Promoter luciferase reporter plasmids for FHL1

ThermoFisher Antibodies for FHL1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FHL1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FHL1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

FHL1 Gene

four and a half LIM domains 1

Aliases
for FHL1 gene

Summaries
for FHL1 gene

Genomic Views
for FHL1 gene

Proteins
for FHL1 gene

Protein Domains /
Families
for FHL1 gene

Function
for FHL1 gene

Pathways & Interactions
for FHL1 gene

Drugs & Compounds
for FHL1 gene

Transcripts
for FHL1 gene

Expression
for FHL1 gene

Orthologs
for FHL1 gene

Paralogs
for FHL1 gene

Genomic Variants
for FHL1 gene

Disorders / Diseases
for FHL1 gene

Publications
for FHL1 gene

External Searches for FHL1 gene

Genome Databases showing FHL1 gene

Other Databases showing FHL1 gene

Specialized Databases showing FHL1 gene

Intellectual Property
for FHL1 gene

Products
for FHL1 gene

View Random Gene

FHL1 (Gene Symbol)
Four And A Half LIM Domains 1
SLIM1
FHL1B
XMPMA
FLH1A
Skeletal Muscle LIM-Protein 1
FHL-1
SLIM
SLIM-1
FHL1A
KYOT
KYO-T
MGC111107
BA535K18.1
SLIMMER
Four And A Half LIM Domains Protein 1
Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 1
LIM Protein SLIMMER
Skeletal Muscle LIM-Protein1

Advanced Search

Export list of displayed genes

FHL1 Gene

four and a half LIM domains 1

Aliasesfor FHL1 gene

Summariesfor FHL1 gene

Genomic Viewsfor FHL1 gene

Proteinsfor FHL1 gene

Protein Domains /Familiesfor FHL1 gene

Functionfor FHL1 gene

Pathways & Interactionsfor FHL1 gene

Drugs & Compoundsfor FHL1 gene

Transcriptsfor FHL1 gene

Expression for FHL1 gene

Orthologsfor FHL1 gene

Paralogsfor FHL1 gene

Genomic Variantsfor FHL1 gene

Disorders / Diseasesfor FHL1 gene

Publicationsfor FHL1 gene

External Searches for FHL1 gene

Genome Databases showing FHL1 gene

Other Databases showing FHL1 gene

Specialized Databases showing FHL1 gene

Intellectual Propertyfor FHL1 gene

Productsfor FHL1 gene

View Random Gene

Aliases
for FHL1 gene

Summaries
for FHL1 gene

Genomic Views
for FHL1 gene

Proteins
for FHL1 gene

Protein Domains /
Families
for FHL1 gene

Function
for FHL1 gene

Pathways & Interactions
for FHL1 gene

Drugs & Compounds
for FHL1 gene

Transcripts
for FHL1 gene

Expression
for FHL1 gene

Orthologs
for FHL1 gene

Paralogs
for FHL1 gene

Genomic Variants
for FHL1 gene

Disorders / Diseases
for FHL1 gene

Publications
for FHL1 gene

Intellectual Property
for FHL1 gene

Products
for FHL1 gene