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FAT1 FAT atypical cadherin 1 [ Homo sapiens (human) ]

Gene ID: 2195, updated on 5-Dec-2021

Summary

Official Symbol
FAT1provided by HGNC
Official Full Name
FAT atypical cadherin 1provided by HGNC
Primary source
HGNC:HGNC:3595
See related
Ensembl:ENSG00000083857 MIM:600976
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
FAT; ME5; CDHF7; CDHR8; hFat1
Summary
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 17.7), kidney (RPKM 13.3) and 21 other tissues See more
Orthologs
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Genomic context

See FAT1 in Genome Data Viewer
Location:
4q35.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (186587789..186726696, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187508948..187645010, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377596 Neighboring gene RNA, U6 small nuclear 1055, pseudogene Neighboring gene melatonin receptor 1A Neighboring gene uncharacterized LOC107986334 Neighboring gene Sharpr-MPRA regulatory region 4557 Neighboring gene uncharacterized LOC102723906 Neighboring gene uncharacterized LOC105377599

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
A genome-wide association study on obesity and obesity-related traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in epithelial cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment or maintenance of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion HDA PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protocadherin Fat 1
Names
FAT tumor suppressor 1
cadherin ME5
cadherin family member 7
cadherin-related family member 8
cadherin-related tumor suppressor homolog
protein fat homolog

NCBI Reference Sequences (RefSeq)

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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_046994.1 RefSeqGene

    Range
    8060..144122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005245.4NP_005236.2  protocadherin Fat 1 precursor

    See identical proteins and their annotated locations for NP_005236.2

    Status: REVIEWED

    Source sequence(s)
    AC107050, AC110761, BF327563, BP363658, BU729008, CD642620, CN289962, X87241
    Consensus CDS
    CCDS47177.1
    UniProtKB/Swiss-Prot
    Q14517
    Related
    ENSP00000406229.2, ENST00000441802.7
    Conserved Domains (5) summary
    cd11304
    Location:32343331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:38543985
    LamG; Laminin G domain
    cd00054
    Location:41274163
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00008
    Location:40934123
    EGF; EGF-like domain
    cl09101
    Location:277356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    186587789..186726696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714139.3XP_006714202.1  protocadherin Fat 1 isoform X2

    See identical proteins and their annotated locations for XP_006714202.1

    UniProtKB/Swiss-Prot
    Q14517
    Conserved Domains (5) summary
    cd11304
    Location:32343331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:38543985
    LamG; Laminin G domain
    cd00054
    Location:41274163
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00008
    Location:40934123
    EGF; EGF-like domain
    cl09101
    Location:277356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  2. XM_005262834.3XP_005262891.1  protocadherin Fat 1 isoform X1

    See identical proteins and their annotated locations for XP_005262891.1

    Conserved Domains (5) summary
    cd11304
    Location:32343331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:38543985
    LamG; Laminin G domain
    cd00054
    Location:41274163
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00008
    Location:40934123
    EGF; EGF-like domain
    cl09101
    Location:277356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  3. XM_005262835.2XP_005262892.1  protocadherin Fat 1 isoform X1

    See identical proteins and their annotated locations for XP_005262892.1

    Conserved Domains (5) summary
    cd11304
    Location:32343331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:38543985
    LamG; Laminin G domain
    cd00054
    Location:41274163
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00008
    Location:40934123
    EGF; EGF-like domain
    cl09101
    Location:277356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
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