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FERMT1 fermitin family member 1 [ Homo sapiens (human) ]

Gene ID: 55612, updated on 4-May-2020

Summary

Official Symbol
FERMT1provided by HGNC
Official Full Name
fermitin family member 1provided by HGNC
Primary source
HGNC:HGNC:15889
See related
Ensembl:ENSG00000101311 MIM:607900
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
URP1; KIND1; DTGCU2; UNC112A; C20orf42
Summary
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
Expression
Broad expression in colon (RPKM 18.0), skin (RPKM 10.5) and 15 other tissues See more
Orthologs

Genomic context

See FERMT1 in Genome Data Viewer
Location:
20p12.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (6074845..6123609, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (6055492..6104191, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14083 Neighboring gene cardiolipin synthase 1 Neighboring gene leucine rich repeat neuronal 4 Neighboring gene TAR DNA binding protein pseudogene 1 Neighboring gene synaptotagmin binding cytoplasmic RNA interacting protein pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Kindler's syndrome
MedGen: C0406557 OMIM: 173650 GeneReviews: Kindler Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20116, FLJ23423

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of epithelial cell polarity IDA
Inferred from Direct Assay
more info
PubMed 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
keratinocyte migration IDA
Inferred from Direct Assay
more info
PubMed 
keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of timing of anagen IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell adhesion mediated by integrin IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transforming growth factor-beta secretion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-substrate junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
fermitin family homolog 1
Names
UNC112 related protein 1
kindlerin
kindlin 1
kindlin syndrome protein
unc-112-related protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016213.1 RefSeqGene

    Range
    5515..53700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017671.5NP_060141.3  fermitin family homolog 1

    See identical proteins and their annotated locations for NP_060141.3

    Status: REVIEWED

    Source sequence(s)
    AB105105, AK000123, BC040545
    Consensus CDS
    CCDS13098.1
    UniProtKB/Swiss-Prot
    Q9BQL6
    UniProtKB/TrEMBL
    Q49AC8, Q54A15
    Related
    ENSP00000217289.4, ENST00000217289.8
    Conserved Domains (4) summary
    smart00295
    Location:250343
    B41; Band 4.1 homologues
    cd01237
    Location:370493
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:564655
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:514570
    FERM_M; FERM central domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    6074845..6123609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451935.1XP_024307703.1  fermitin family homolog 1 isoform X1

    Conserved Domains (4) summary
    smart00295
    Location:250343
    B41; Band 4.1 homologues
    cd01237
    Location:370493
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:564655
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:514570
    FERM_M; FERM central domain
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