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    FAT3 FAT atypical cadherin 3 [ Homo sapiens (human) ]

    Gene ID: 120114, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAT3provided by HGNC
    Official Full Name
    FAT atypical cadherin 3provided by HGNC
    Primary source
    HGNC:HGNC:23112
    See related
    Ensembl:ENSG00000165323 MIM:612483; AllianceGenome:HGNC:23112
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hFat3; CDHF15; CDHR10
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within generation of neurons; negative regulation of dendrite development; and retina layer formation. Predicted to be located in dendrite and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 1.5), prostate (RPKM 0.4) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAT3 in Genome Data Viewer
    Location:
    11q14.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (92224818..92896473)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (92147480..92825282)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (91957984..92629639)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369429 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:91891363-91892076 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:91902042-91903241 Neighboring gene ribosomal protein L7a pseudogene 57 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:91959543-91960400 Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 pseudogene 1 Neighboring gene phosphoglycerate mutase 1 pseudogene 9 Neighboring gene MPRA-validated peak1397 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:92243624-92244124 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:92244125-92244625 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:92257655-92258190 Neighboring gene RPS3A pseudogene 42 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:92283332-92283906 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:92283907-92284481 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:92360199-92361398 Neighboring gene uncharacterized LOC124902732 Neighboring gene NANOG hESC enhancer GRCh37_chr11:92400564-92401136 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:92405093-92405303 Neighboring gene uncharacterized LOC124902841 Neighboring gene Sharpr-MPRA regulatory region 7264 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:92526255-92526870 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:92553932-92554527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:92571950-92572450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:92586970-92587470 Neighboring gene Sharpr-MPRA regulatory region 9498 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:92621650-92622849 Neighboring gene long intergenic non-protein coding RNA 2746 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 49 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 16

    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. Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis. Nada D, et al. Sci Rep, 2022 Jul 19. PMID 35853984, Free PMC Article
    2. Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer. Jiang Z, et al. Gynecol Oncol, 2024 Aug. PMID 38696842
    3. Co-Mutation of FAT3 and LRP1B in Lung Adenocarcinoma Defines a Unique Subset Correlated With the Efficacy of Immunotherapy. Zhu M, et al. Front Immunol, 2021. PMID 35069585, Free PMC Article
    4. A circular RNA derived from FAT atypical cadherin 3 promotes lung cancer progression via forming a regulatory loop with oncogenic ELAV like RNA binding protein 1. Jiang H, et al. J Biochem, 2022 May 11. PMID 34647573
    5. Mammalian fat3: a large protein that contains multiple cadherin and EGF-like motifs. Mitsui K, et al. Biochem Biophys Res Commun, 2002 Feb 1. PMID 11811999

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer.
      Title: Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer.
    2. Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis.
      Title: Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis.
    3. A circular RNA derived from FAT atypical cadherin 3 promotes lung cancer progression via forming a regulatory loop with oncogenic ELAV like RNA binding protein 1.
      Title: A circular RNA derived from FAT atypical cadherin 3 promotes lung cancer progression via forming a regulatory loop with oncogenic ELAV like RNA binding protein 1.
    4. Fat3 acts through independent cytoskeletal effectors to coordinate asymmetric cell behaviors during polarized circuit assembly.
      Title: Fat3 acts through independent cytoskeletal effectors to coordinate asymmetric cell behaviors during polarized circuit assembly.
    5. Co-Mutation of FAT3 and LRP1B in Lung Adenocarcinoma Defines a Unique Subset Correlated With the Efficacy of Immunotherapy.
      Title: Co-Mutation of FAT3 and LRP1B in Lung Adenocarcinoma Defines a Unique Subset Correlated With the Efficacy of Immunotherapy.
    6. For Fat3, the Kif5-ID is regulated by alternative splicing, and the timecourse of splicing suggests that the distribution of Fat3 may switch between early and later stages of retinal development. In contrast, P75NTR binding to Kif5B is enhanced by tyrosine phosphorylation and thus has the potential to be dynamically regulated on a more rapid time scale
      Title: Disparate Regulatory Mechanisms Control Fat3 and P75NTR Protein Transport through a Conserved Kif5-Interaction Domain.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30341, KIAA1989

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell morphogenesis involved in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interneuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina layer formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protocadherin Fat 3
    Names
    FAT tumor suppressor homolog 3
    cadherin family member 15
    cadherin-related family member 10

    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_052813.1 RefSeqGene

      Range
      5183..676838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008781.3 → NP_001008781.2  protocadherin Fat 3 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AP000722, AP000805, AP002514, AP003124, AP003171, AP003718
      UniProtKB/Swiss-Prot
      B5MDB0, Q8TDW7, Q96AU6
      UniProtKB/TrEMBL
      E9PQ73
      Related
      ENSP00000387040.2, ENST00000409404.6
      Conserved Domains (4) summary
      cd11304
      Location:3241 → 3337
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:4023 → 4058
      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 ...
      pfam02210
      Location:3865 → 3994
      Laminin_G_2; Laminin G domain
      cl29226
      Location:286 → 357
      Cadherin; Cadherin domain

    2. NM_001367949.2 → NP_001354878.1  protocadherin Fat 3 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000722, AP000805, AP002514, AP003124, AP003171, AP003718
      Consensus CDS
      CCDS91573.1
      UniProtKB/TrEMBL
      E9PQ73
      Related
      ENSP00000432586.2, ENST00000525166.6

    3. NM_001378141.1 → NP_001365070.1  protocadherin Fat 3 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AP000722, AP000805, AP002514, AP003124
      Conserved Domains (2) summary
      cd11304
      Location:1049 → 1144
      Cadherin_repeat; Cadherin tandem repeat domain
      cl29226
      Location:286 → 357
      Cadherin; Cadherin domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      92224818..92896473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017179.3 → XP_016872668.1  protocadherin Fat 3 isoform X1

      UniProtKB/TrEMBL
      E9PQ73

    2. XM_017017178.3 → XP_016872667.1  protocadherin Fat 3 isoform X1

      UniProtKB/TrEMBL
      E9PQ73

    3. XM_017017180.2 → XP_016872669.1  protocadherin Fat 3 isoform X2

      UniProtKB/TrEMBL
      E9PQ73

    4. XM_017017182.3 → XP_016872671.1  protocadherin Fat 3 isoform X3

      UniProtKB/TrEMBL
      E9PQ73

    5. XM_017017186.2 → XP_016872675.1  protocadherin Fat 3 isoform X6

    6. XM_017017184.3 → XP_016872673.1  protocadherin Fat 3 isoform X4

      UniProtKB/TrEMBL
      E9PQ73

    7. XM_047426353.1 → XP_047282309.1  protocadherin Fat 3 isoform X1

      UniProtKB/TrEMBL
      E9PQ73

    8. XM_017017187.2 → XP_016872676.1  protocadherin Fat 3 isoform X6

    9. XM_017017185.2 → XP_016872674.1  protocadherin Fat 3 isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171808.1 Reference GRCh38.p14 PATCHES

      Range
      123862..157427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      92147480..92825282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367643.1 → XP_054223618.1  protocadherin Fat 3 isoform X6

    2. XM_054367641.1 → XP_054223616.1  protocadherin Fat 3 isoform X7

      UniProtKB/TrEMBL
      E9PQ73

    3. XM_054367644.1 → XP_054223619.1  protocadherin Fat 3 isoform X6

    4. XM_054367642.1 → XP_054223617.1  protocadherin Fat 3 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDW7.3 GenPept UniProtKB/Swiss-Prot:Q8TDW7

    Gene LinkOut

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

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