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FHL1 Gene(Protein Coding)

Four And A Half LIM Domains 1

GCID:
GC0XP136146
GIFtS:
56
Genes Participants
UDN Logo

Aliases for FHL1 Gene

Aliases for FHL1 Gene

  • Four And A Half LIM Domains 1 2 3 5
  • Skeletal Muscle LIM-Protein 1 3 4
  • LIM Protein SLIMMER 2 3
  • SLIM-1 3 4
  • FHL-1 3 4
  • SLIM1 3 4
  • SLIM 3 4
  • Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 1 3
  • Four And A Half LIM Domains Protein 1 3
  • Four-And-A-Half LIM Domains 1 2
  • SLIMMER 3
  • RBMX1A 3
  • RBMX1B 3
  • FCMSU 3
  • FHL1A 3
  • FHL1B 3
  • FLH1A 3
  • XMPMA 3
  • KYOT 3

External Ids for FHL1 Gene

Previous GeneCards Identifiers for FHL1 Gene

  • GC0XP129801
  • GC0XP132075
  • GC0XP133174
  • GC0XP133935
  • GC0XP134955
  • GC0XP135057
  • GC0XP135229
  • GC0XP124502

Summaries for FHL1 Gene

Entrez Gene Summary for FHL1 Gene

  • 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]

GeneCards Summary for FHL1 Gene

FHL1 (Four And A Half LIM Domains 1) is a Protein Coding gene. Diseases associated with FHL1 include Myopathy, X-Linked, With Postural Muscle Atrophy and Scapuloperoneal Myopathy, X-Linked Dominant. Among its related pathways are Jak-STAT signaling pathway (KEGG) and Notch signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include ion channel binding. An important paralog of this gene is FHL2.

UniProtKB/Swiss-Prot for FHL1 Gene

  • May have an involvement in muscle development or hypertrophy.

Gene Wiki entry for FHL1 Gene

Additional gene information for FHL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHL1 Gene

Genomics for FHL1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for FHL1 Gene

Promoters and enhancers for FHL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI136166 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567 +22.2 22188 5.8 PKNOX1 FEZF1 ZNF2 ZNF213 FOS KLF13 SP3 RXRA REST TSHZ1 FHL1 MAP7D3 PIR45658
GH0XI136146 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 555 +1.4 1398 3 MXI1 ZBTB6 ZNF76 ZIC2 E2F1 ZNF335 GLIS2 POLR2A PATZ1 VEZF1 FHL1 MAP7D3 PIR45658
GH0XI136195 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 555 +50.1 50134 2.2 PRDM1 FHL1 MAP7D3 PIR45658
GH0XI136202 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +58.3 58271 5.1 PKNOX1 ARNT INSM2 FEZF1 BMI1 BRCA1 RFX5 ZNF366 SCRT2 RCOR1 PIR45658 FHL1
GH0XI136185 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.7 +39.0 39002 1.3 MXI1 PKNOX1 JUN INSM2 FEZF1 HIC1 CTBP1 ZNF316 FOSL2 FOS FHL1 MAP7D3 PIR45658
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FHL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FHL1 gene promoter:

Genomic Locations for FHL1 Gene

Genomic Locations for FHL1 Gene
chrX:136,146,702-136,211,359
(GRCh38/hg38)
Size:
64,658 bases
Orientation:
Plus strand
chrX:135,228,861-135,293,518
(GRCh37/hg19)

Genomic View for FHL1 Gene

Genes around FHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FHL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FHL1 Gene

Proteins for FHL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13642-FHL1_HUMAN
    Recommended name:
    Four and a half LIM domains protein 1
    Protein Accession:
    Q13642
    Secondary Accessions:
    • B7Z5T4
    • B7Z793
    • O95212
    • Q13230
    • Q13645
    • Q5JXI7
    • Q5M7Y6
    • Q6IB30
    • Q9NZ40
    • Q9UKZ8
    • Q9Y630

    Protein attributes for FHL1 Gene

    Size:
    323 amino acids
    Molecular mass:
    36263 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH88369.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI41055.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FHL1 Gene

    Alternative splice isoforms for FHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FHL1 Gene

Protein Expression for FHL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FHL1 Gene

  • Ubiquitination at Lys106
  • Modification sites at PhosphoSitePlus

Other Protein References for FHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FHL1 Gene

Domains & Families for FHL1 Gene

Gene Families for FHL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FHL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FHL1: view

No data available for UniProtKB/Swiss-Prot for FHL1 Gene

Function for FHL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FHL1 Gene

GENATLAS Biochemistry:
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.
UniProtKB/Swiss-Prot Function:
May have an involvement in muscle development or hypertrophy.

Phenotypes From GWAS Catalog for FHL1 Gene

Gene Ontology (GO) - Molecular Function for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19401155
GO:0044325 ion channel binding IPI 18281375
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FHL1: view
genes like me logo Genes that share phenotypes with FHL1: view

Human Phenotype Ontology for FHL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FHL1 Gene

MGI Knock Outs for FHL1:

Animal Model Products

miRNA for FHL1 Gene

miRTarBase miRNAs that target FHL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FHL1 Gene

Localization for FHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHL1 Gene

Isoform 1: Cytoplasm.
Isoform 3: Cytoplasm. Nucleus.
Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FHL1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21702045
GO:0005737 cytoplasm IDA,IEA 21702045
GO:0005829 cytosol IDA,IEA --
GO:0005886 plasma membrane IDA 18281375
GO:0005925 focal adhesion IDA,HDA 21423176
genes like me logo Genes that share ontologies with FHL1: view

Pathways & Interactions for FHL1 Gene

genes like me logo Genes that share pathways with FHL1: view

Pathways by source for FHL1 Gene

1 BioSystems pathway for FHL1 Gene
1 KEGG pathway for FHL1 Gene

SIGNOR curated interactions for FHL1 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003254 regulation of membrane depolarization IDA 18281375
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development NAS 7626119
GO:0009887 animal organ morphogenesis NAS 7626119
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle IDA 21702045
genes like me logo Genes that share ontologies with FHL1: view

Drugs & Compounds for FHL1 Gene

Products:

  1. Drug

(2) Drugs for FHL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FHL1: view

Transcripts for FHL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FHL1 Gene

(16) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(732) Selected AceView cDNA sequences:
(33) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FHL1 Gene

Four and a half LIM domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FHL1 Gene

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: - -
SP6: - - -
SP7: - - - - - - - - - - - - - - - -
SP8:
SP9: - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12:
SP13:
SP14: - - - - - - -
SP15: - - - - - - - - -
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SP17: - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - -
SP20:
SP21: - -
SP22: - - - - - - - - - - - - - - - - - -
SP23: - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - - - - - - -
SP26:
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SP29: - - - - - - - - - - - - - - - - - - - -
SP30: - - - - - - - -
SP31: - - - - - - - - - - - - - - - - - - - - - -
SP32: - - - - - - - - - - - - - - - - -
SP33: -
SP34:
SP35:
SP36:
SP37:
SP38:
SP39:

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: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - - - -
SP15: - - - - - - -
SP16: - - - -
SP17: - - - - - - -
SP18: - - - - - - -
SP19: - - - - - - -
SP20: - - -
SP21: - - - - - - - - - -
SP22: - - - - - - - - - - - - - -
SP23: - - - - - -
SP24: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - -
SP26: - - - - - - - - - -
SP27: - - - - - -
SP28: - - - - - - - - - - - - - - - - - - - - -
SP29: - - - -
SP30: - - - -
SP31: - - - - - - -
SP32: - - - -
SP33: - - - - - - -
SP34: - - - - -
SP35: - - - - - -
SP36: - - -
SP37:
SP38:
SP39:

ExUns: 23d ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c · 26d · 26e · 26f ^ 27a · 27b · 27c ^ 28a · 28b · 28c · 28d · 28e
SP1: -
SP2: - - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8: - - -
SP9:
SP10:
SP11: - - - - - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - - - - -
SP25:
SP26:
SP27:
SP28: - - - - -
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
SP36: - - - - - - - - -
SP37: -
SP38:
SP39:

Relevant External Links for FHL1 Gene

GeneLoc Exon Structure for
FHL1
ECgene alternative splicing isoforms for
FHL1

Expression for FHL1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FHL1 Gene

mRNA expression in normal human tissues for FHL1 Gene
mRNA expression by GTEx for FHL1 GenemRNA expression by BioGPS for FHL1 Gene

mRNA differential expression in normal tissues according to GTEx for FHL1 Gene

This gene is overexpressed in Muscle - Skeletal (x13.9).

Protein differential expression in normal tissues from HIPED for FHL1 Gene

This gene is overexpressed in Cardia (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FHL1 Gene



Protein tissue co-expression partners for FHL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FHL1 Gene:

FHL1

SOURCE GeneReport for Unigene cluster for FHL1 Gene:

Hs.435369

mRNA Expression by UniProt/SwissProt for FHL1 Gene:

Q13642-FHL1_HUMAN
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.

Evidence on tissue expression from TISSUES for FHL1 Gene

  • Heart(5)
  • Muscle(5)
  • Nervous system(5)
  • Lung(4.8)
  • Blood(4.3)
  • Intestine(4.2)
  • Bone marrow(4.1)
  • Stomach(3.8)
  • Skin(3.7)
  • Kidney(3.3)
  • Gall bladder(2.3)
  • Thyroid gland(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FHL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • neck
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FHL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FHL1 Gene

Orthologs for FHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FHL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia FHL1 33 34
  • 95.58 (n)
rat
(Rattus norvegicus)
 Mammalia Fhl1 33
  • 93.91 (n)
cow
(Bos Taurus)
 Mammalia FHL1 33 34
  • 93.79 (n)
mouse
(Mus musculus)
 Mammalia Fhl1 33 16 34
  • 93.68 (n)
oppossum
(Monodelphis domestica)
 Mammalia FHL1 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FHL1 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FHL1 33 34
  • 74.94 (n)
lizard
(Anolis carolinensis)
 Reptilia FHL1 34
  • 62 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fhl1 33
  • 77.59 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1950 33
zebrafish
(Danio rerio)
 Actinopterygii fhl1a 33 34
  • 70.11 (n)
fhl1b 34
  • 51 (a)
 OneToMany
fhl 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8766 33
worm
(Caenorhabditis elegans)
 Secernentea F25H5.1b 35
  • 43 (a)
lim-9 34
  • 17 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 35 (a)
 OneToMany
Species where no ortholog for FHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FHL1 Gene

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

Paralogs for FHL1 Gene

Paralogs for FHL1 Gene

(9) SIMAP similar genes for FHL1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for FHL1 Gene

genes like me logo Genes that share paralogs with FHL1: view

Variants for FHL1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FHL1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1060502840 pathogenic, Myopathy with postural muscle atrophy, X-linked 136,206,492(+) G/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060504733 likely-benign, Myopathy with postural muscle atrophy, X-linked 136,208,634(+) C/G coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs122458140 pathogenic, Scapuloperoneal myopathy, X-linked dominant, Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695] 136,207,825(+) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs122458141 pathogenic, Myopathy with postural muscle atrophy, X-linked, Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696] 136,208,625(+) C/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs122458142 pathogenic, Myopathy, reducing body, X-linked, early-onset, severe, Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] 136,207,827(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FHL1 Gene

Variant ID Type Subtype PubMed ID
esv3574717 CNV loss 25503493
nsv478386 CNV novel sequence insertion 20440878
nsv7108 CNV deletion 18451855

Variation tolerance for FHL1 Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FHL1 Gene

Human Gene Mutation Database (HGMD)
FHL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FHL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHL1 Gene

Disorders for FHL1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for FHL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FHL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FHL1_HUMAN
  • Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:19716112}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
  • Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. {ECO:0000269 PubMed:18179888, ECO:0000269 PubMed:19687455}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term reducing body refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. {ECO:0000269 PubMed:18274675, ECO:0000269 PubMed:19171836, ECO:0000269 PubMed:19181672}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term reducing body refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. {ECO:0000269 PubMed:18274675, ECO:0000269 PubMed:19171836, ECO:0000269 PubMed:19181672, ECO:0000269 PubMed:23169582}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound. {ECO:0000269 PubMed:18179901, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FHL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for FHL1 Gene

Publications for FHL1 Gene

  1. Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1). (PMID: 9714789) Lee SM … Lee CY (Gene 1998) 2 3 4 22 58
  2. Slim defines a novel family of LIM-proteins expressed in skeletal muscle. (PMID: 8753811) Morgan MJ … Madgwick AJ (Biochemical and biophysical research communications 1996) 2 3 4 22 58
  3. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (PMID: 19181672) Schessl J … Bönnemann CG (Brain : a journal of neurology 2009) 3 4 22 58
  4. Consequences of mutations within the C terminus of the FHL1 gene. (PMID: 19687455) Schoser B … Windpassinger C (Neurology 2009) 3 4 22 58
  5. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (PMID: 19716112) Gueneau L … Bonne G (American journal of human genetics 2009) 3 4 22 58

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