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

Gene ID: 2195, updated on 16-Apr-2024

Summary

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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; AllianceGenome:HGNC:3595
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
mouse all
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Genomic context

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Location:
4q35.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186587794..186726696, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189934525..190074022, complement)
105.20220307 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 RNA, U6 small nuclear 1055, pseudogene Neighboring gene uncharacterized LOC105377596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459115-187459616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459617-187460116 Neighboring gene melatonin receptor 1A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76785 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187509297-187510496 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187524269-187525468 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76848 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76856 Neighboring gene uncharacterized LOC107986334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76895 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187608985-187609605 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187610837-187611336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187644451-187644952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187645453-187646452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187647635-187648136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187670509-187671010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187671011-187671510 Neighboring gene uncharacterized LOC124900875 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:187688463-187688630 Neighboring gene Sharpr-MPRA regulatory region 4557 Neighboring gene NANOG hESC enhancer GRCh37_chr4:187731547-187732254 Neighboring gene uncharacterized LOC124900877 Neighboring gene uncharacterized LOC102723906

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration. Riascos-Bernal DF, et al. Cells, 2023 Jun 14. PMID 37371091, Free PMC Article
  2. FAT1 expression in T-cell acute lymphoblastic leukemia (T-ALL) modulates proliferation and WNT signaling. Liebig S, et al. Sci Rep, 2023 Jan 18. PMID 36653435, Free PMC Article
  3. A pan-cancer analysis of the FAT1 in human tumors. Wang Z, et al. Sci Rep, 2022 Dec 14. PMID 36517565, Free PMC Article
  4. Analysis of scRNA-seq and bulk RNA-seq demonstrates the effects of EVI2B or CD361 on CD8(+) T cells in osteosarcoma. Xie T, et al. Exp Biol Med (Maywood), 2023 Jan. PMID 36511103, Free PMC Article
  5. Upregulation of Atypical Cadherin FAT1 Promotes an Immunosuppressive Tumor Microenvironment via TGF-β. Irshad K, et al. Front Immunol, 2022. PMID 35720420, Free PMC Article

See all (121) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.
    Title: Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.
  2. Clinical value of FAT1 mutations to indicate the immune response in colorectal cancer patients.
    Title: Clinical value of FAT1 mutations to indicate the immune response in colorectal cancer patients.
  3. FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
    Title: FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
  4. Predictive capacity of FAT1 transcriptional expression in patients with head and neck squamous cell carcinomas treated with radiotherapy.
    Title: Predictive capacity of FAT1 transcriptional expression in patients with head and neck squamous cell carcinomas treated with radiotherapy.
  5. The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
    Title: The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
  6. Analysis of scRNA-seq and bulk RNA-seq demonstrates the effects of EVI2B or CD361 on CD8[+] T cells in osteosarcoma.
    Title: Analysis of scRNA-seq and bulk RNA-seq demonstrates the effects of EVI2B or CD361 on CD8(+) T cells in osteosarcoma.
  7. FAT1 expression in T-cell acute lymphoblastic leukemia (T-ALL) modulates proliferation and WNT signaling.
    Title: FAT1 expression in T-cell acute lymphoblastic leukemia (T-ALL) modulates proliferation and WNT signaling.
  8. Oncogenic LINC00857 recruits TFAP2C to elevate FAT1 expression in gastric cancer.
    Title: Oncogenic LINC00857 recruits TFAP2C to elevate FAT1 expression in gastric cancer.
  9. A pan-cancer analysis of the FAT1 in human tumors.
    Title: A pan-cancer analysis of the FAT1 in human tumors.
  10. Overexpression of circRNA circFAT1 in Endometrial Cancer Cells Increases Their Stemness by Upregulating miR-21 Through Methylation.
    Title: Overexpression of circRNA circFAT1 in Endometrial Cancer Cells Increases Their Stemness by Upregulating miR-21 Through Methylation.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 cellular response to angiotensin IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in positive regulation of vascular associated smooth muscle cell migration 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 cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion HDA 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

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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_005245.4 → NP_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:3234 → 3331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:3854 → 3985
    LamG; Laminin G domain
    cd00054
    Location:4127 → 4163
    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:4093 → 4123
    EGF; EGF-like domain
    cl09101
    Location:277 → 356
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    186587794..186726696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714139.4 → XP_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:3234 → 3331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:3854 → 3985
    LamG; Laminin G domain
    cd00054
    Location:4127 → 4163
    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:4093 → 4123
    EGF; EGF-like domain
    cl09101
    Location:277 → 356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

  2. XM_005262834.4 → XP_005262891.1  protocadherin Fat 1 isoform X1

    See identical proteins and their annotated locations for XP_005262891.1

    Conserved Domains (5) summary
    cd11304
    Location:3234 → 3331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:3854 → 3985
    LamG; Laminin G domain
    cd00054
    Location:4127 → 4163
    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:4093 → 4123
    EGF; EGF-like domain
    cl09101
    Location:277 → 356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

  3. XM_005262835.3 → XP_005262892.1  protocadherin Fat 1 isoform X1

    See identical proteins and their annotated locations for XP_005262892.1

    Conserved Domains (5) summary
    cd11304
    Location:3234 → 3331
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00282
    Location:3854 → 3985
    LamG; Laminin G domain
    cd00054
    Location:4127 → 4163
    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:4093 → 4123
    EGF; EGF-like domain
    cl09101
    Location:277 → 356
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189934525..190074022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349259.1 → XP_054205234.1  protocadherin Fat 1 isoform X2

  2. XM_054349257.1 → XP_054205232.1  protocadherin Fat 1 isoform X1

  3. XM_054349258.1 → XP_054205233.1  protocadherin Fat 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14517.2 GenPept UniProtKB/Swiss-Prot:Q14517

Gene LinkOut

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