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

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; 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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
Title: FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression.
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.
The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
Title: The FAT1 Cadherin Drives Vascular Smooth Muscle Cell Migration.
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.
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.
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 EBI GWAS CatalogPubMed

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

WI-14904 (e-PCR)
- UniSTS:74253

SHGC-81304 (e-PCR)
- UniSTS:102672

SHGC-83441 (e-PCR)
- UniSTS:101935

STS-X87241 (e-PCR)
- UniSTS:44942

G63501 (e-PCR)
- UniSTS:140463

SHGC-67715 (e-PCR)
- UniSTS:60114

D4S1295 (e-PCR)
- UniSTS:60381

RH93502 (e-PCR)
- UniSTS:91364

SHGC-51162 (e-PCR)
- UniSTS:7927

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 more info	PubMed
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	HDA 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

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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

NG_046994.1 RefSeqGene

Range

8060..144122

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

186587794..186726696 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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