FERMT1 Gene

Aliases
for FERMT1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Previous GC identifer: GC20M006004

Summaries
for FERMT1 gene

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

Genomic Views
for FERMT1 gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000020.10  NC_018931.2  NT_011387.9  

SwitchGear Promoter luciferase reporter plasmid: FERMT1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FERMT1

FERMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M006055:  view genomic region     (about GC identifiers)

Proteins
for FERMT1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

Explore the universe of human proteins at neXtProt for FERMT1: NX_Q9BQL6

Explore proteomics data for FERMT1 at MOPED

Post-translational modifications: 

FERMT1 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 Protein for FERMT1 OriGene Protein Over-expression Lysate for FERMT1 OriGene MassSpec for FERMT1 OriGene Custom Protein Services for FERMT1
	GenScript Custom Purified and Recombinant Proteins Services for FERMT1
	Novus Biologicals FERMT1 Proteins Novus Biologicals FERMT1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for FERMT1
	Search GeneTex for Proteins for FERMT1
	antibodies-online proteins for FERMT1 (6 products)
	antibodies-online peptides for FERMT1

FERMT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FERMT1
	Browse R&D Systems for Antibodies
	OriGene Antibodies for FERMT1 OriGene Custom Antibody Services for FERMT1
	Novus Biologicals FERMT1 Antibodies
	Abcam antibodies for FERMT1
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for FERMT1
	antibodies-online antibodies for FERMT1 (23 products)

FERMT1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for FERMT1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FERMT1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for FERMT1
	antibodies-online kits for FERMT1 (2 products)

Domains /
Families
for FERMT1 gene

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

ProtoNet protein and cluster: Q9BQL6

Find genes that share domains with FERMT1           About GenesLikeMe

Function
for FERMT1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Phenotypes:
     2 GenomeRNAi human phenotypes for FERMT1:

(inferred from 2 alleles) (MGI details for Fermt1)

genOway: Develop your customized and physiologically relevant rodent model for FERMT1

miRNA Products:		miRTarBase miRNAs that target FERMT1: hsa-mir-215-5p (MIRT024326), hsa-mir-192-5p (MIRT026139), hsa-mir-125a-5p (MIRT045760), hsa-mir-9-5p (MIRT021380)
		Block miRNA regulation of human, mouse, rat FERMT1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FERMT1 (see all 9):
		hsa-miR-607 hsa-miR-548o hsa-miR-597 hsa-miR-507 hsa-miR-373* hsa-miR-661 hsa-miR-1323 hsa-miR-24
		SwitchGear 3'UTR luciferase reporter plasmid: FERMT1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for FERMT1
		Predesigned siRNA for gene silencing in human, mouse, rat FERMT1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for FERMT1

Clone Products:		OriGene clones in human, mouse for FERMT1 (see all 7) OriGene ORF clones in mouse, rat for FERMT1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FERMT1 (NM_017671)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FERMT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FERMT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FERMT1
		Browse ESI BIO Cell Lines and PureStem Progenitors for FERMT1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

Localization
for FERMT1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytoskeleton	5
cytosol	5
plasma membrane	5
nucleus	2
extracellular	1

About this image

Gene Ontology (GO): 5 cellular component terms:    About this table

Pathways & Interactions
for FERMT1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Gene Ontology (GO): 4 biological process terms:    About this table

Drugs & Compounds
for FERMT1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Transcripts
for FERMT1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

Expression
for FERMT1 gene

(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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FERMT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACACACAGCA

About this image

Bone (Muscoskeletal System)
Bone Marrow
Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast
Testis (Reproductive System)
Leydig Cells Testis Interstitium
Pancreas (Endocrine System)
Islets of Langerhans
Ovary (Reproductive System)
Oviduct

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for FERMT1
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FERMT1
		QuantiTect SYBR Green Assays in human, mouse, rat FERMT1
		QuantiFast Probe-based Assays in human, mouse, rat FERMT1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

Orthologs
for FERMT1 gene

(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

Paralogs
for FERMT1 gene

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

Paralogs for FERMT1 gene

FERMT2²  FERMT3²  

3 SIMAP similar genes for FERMT1 using alignment to 4 protein entries:     FERM1_HUMAN (see all proteins):

DTGCU2    FERMT2    FERMT3

Find genes that share paralogs with FERMT1           About GenesLikeMe

Genomic Variants
for FERMT1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

Selected SNPs for FERMT1 (see all 1402)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0669434		Kindler syndrome (KINDS)4	--	see VAR_066943	2	S P	mis4		0	--	--	--	--
VAR_0669444		Kindler syndrome (KINDS)4	--	see VAR_066944	2	W R	mis4		0	--	--	--	--
rs1219182931,2	C	pathogenic1	6035841(-)	TCTTAC/TGATTT	2	R *	stg1		0	--	--	--	--
rs61170651,2	C,F,A,H	--	6002664(+)	CCTCTA/GTGGGC	1	--	ds5001		27		NS EA NA CSA WA	2974
rs1177785461,2	C,F	--	6002775(+)	ATTGCC/TGCTGG	1	--	ds5001		1		EA	120
rs2005379361,2	C	--	6002797(+)	TGCTGG/TTGTGT	1	--	ds5001		0	--	--	--	--
rs1898510361,2		--	6003005(+)	CTTGGC/TGCTGT	1	--	ds5001		0	--	--	--	--
rs60538771,2	C,F,A,H	--	6003067(+)	GGAAAA/CAGTCA	1	--	ds5001		16		NS EA WA CSA NA	2138
rs2019274261,2		--	6003275(+)	GTATT-/AAAAAA	1	--	ut31		0	--	--	--	--
rs1399900901,2	C	--	6003318(+)	TTAGG-/TTTTTGT	1	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for FERMT1 (6055492 - 6104191 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for FERMT1:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv270117	CNV	Insertion	20981092
nsv518036	CNV	Loss	19592680
nsv912647	CNV	Loss	21882294
nsv912648	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): FERMT1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FERMT1

DNA2.0 Custom Variant and Variant Library Synthesis for FERMT1

Disorders / Diseases
for FERMT1 gene

(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, Sets of similar genes according to GenesLikeMe)
About This Section

Kindler syndrome (KINDS) [MIM:173650]: Autosomal recessive skin disorder characterized by skin

blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features

include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk

of mucocutaneous malignancy. Note=The disease is caused by mutations affecting the gene represented in this

entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss

of FERMT1 function, significant clinical variability is observed among patients. There is an association of

FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications

(PubMed:21936020)

3 diseases for FERMT1:    
About MalaCards

1 Novoseek inferred disease relationship for FERMT1 gene    About this table

Publications
for FERMT1 gene

(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

1. URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. (PubMed id 12697302)^{1, 2, 3, 9} Weinstein E.J....Mazzarella R. (Biochim. Biophys. Acta 2003)
2. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (PubMed id 12789646)^{1, 2, 3, 9} Siegel D.H.... Epstein E.H. Jr. (Am. J. Hum. Genet. 2003)
3. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. (PubMed id 17012746)^{1, 2, 9} Herz C.... Has C. (J. Biol. Chem. 2006)
4. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. (PubMed id 14634021)^{1, 2, 9} Kloeker S....Beckerle M.C. (J. Biol. Chem. 2004)
5. The structure of the N-terminus of kindlin-1: a domain important for alphaIIbbeta3 integrin activation. (PubMed id 19804783)^{1, 2, 9} Goult B.T.... Critchley D.R. (J. Mol. Biol. 2009)
6. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. (PubMed id 12668616)^{1, 2, 9} Jobard F.... Fischer J. (Hum. Mol. Genet. 2003)
7. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. (PubMed id 21936020)^{1, 2} Has C....Bruckner-Tuderman L. (Hum. Mutat. 2011)
8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
9. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. (PubMed id 18528435)^{1, 9} Lai-Cheong J.E....McGrath J.A. (J. Invest. Dermatol. 2008)
10. Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. (PubMed id 19762715)^{1, 9} Has C....Bruckner-Tuderman L. (Am. J. Pathol. 2009)

External Searches for FERMT1 gene

Genome Databases showing FERMT1 gene

Other Databases showing FERMT1 gene

Specialized Databases showing FERMT1 gene

Products
for FERMT1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section