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

    Gene ID: 2195, updated on 28-Oct-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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    See FAT1 in Genome Data Viewer
    Location:
    4q35.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186587794..186726696, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189934525..190074022, complement)
    RS_2024_09 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 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. FAT1 inhibits cell migration and invasion by affecting cellular mechanical properties in esophageal squamous cell carcinoma. Hu X, et al. Oncol Rep, 2018 May. PMID 29565465, Free PMC Article
    2. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Puppo F, et al. Hum Mutat, 2015 Apr. PMID 25615407
    3. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Mariot V, et al. Ann Neurol, 2015 Sep. PMID 26018399
    4. Loss of FAT1 during the progression from DCIS to IDC and predict poor clinical outcome in breast cancer. Wang L, et al. Exp Mol Pathol, 2016 Feb. PMID 26721716
    5. Association between FAT1 mutation and overall survival in patients with human papillomavirus-negative head and neck squamous cell carcinoma. Kim KT, et al. Head Neck, 2016 Apr. PMID 26876381, Free PMC Article

    See all (132) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAT1 as a tumor mutation burden specific gene affects the immunotherapy effect in head and neck squamous cell cancer.
      Title: FAT1 as a tumor mutation burden specific gene affects the immunotherapy effect in head and neck squamous cell cancer.
    2. STAT1 mediated downregulation of the tumor suppressor gene PDCD4, is driven by the atypical cadherin FAT1, in glioblastoma.
      Title: STAT1 mediated downregulation of the tumor suppressor gene PDCD4, is driven by the atypical cadherin FAT1, in glioblastoma.
    3. 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.
    4. 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.
    5. FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
      Title: FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
    6. 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.
    7. The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
      Title: The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
    8. 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.
    9. 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.
    10. Oncogenic LINC00857 recruits TFAP2C to elevate FAT1 expression in gastric cancer.
      Title: Oncogenic LINC00857 recruits TFAP2C to elevate FAT1 expression in gastric cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (79)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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