TCAF1 TRPM8 channel associated factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCAF1provided by HGNC
Official Full Name: TRPM8 channel associated factor 1provided by HGNC
Primary source: HGNC:HGNC:22201
See related: Ensembl:ENSG00000198420 MIM:616251; AllianceGenome:HGNC:22201
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: GATD9A; FAM115A
Summary: Enables transmembrane transporter binding activity. Involved in negative regulation of cell migration; positive regulation of anion channel activity; and positive regulation of protein targeting to membrane. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in placenta (RPKM 36.2), brain (RPKM 25.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q35

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (143851375..143902176, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (145131725..145182539, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (143548468..143599269, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

TCAF1 promotes TRPV2-mediated Ca[2+] release in response to cytosolic DNA to protect stressed replication forks.
Title: TCAF1 promotes TRPV2-mediated Ca(2+) release in response to cytosolic DNA to protect stressed replication forks.
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
Title: Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
TCAF1 binds to and promotes trafficking of the TRPM8 cold sensor channel to the cell surface, it contains a PI3K homology domain in its C-terminal tail that modifies TRPM8 gating properties and seems to facilitate channel opening, as assessed by menthol-induced response. Overexpression leads to a reduction in both the speed and directionality of migration of prostate cancer cells.
Title: TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity.
Report novel TRP channel-associated factors that modulate TRPM8 activity.
Title: TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

STS-R17001 (e-PCR)
- UniSTS:66111

D7S2642 (e-PCR)
- UniSTS:22348

RH15814 (e-PCR)
- UniSTS:91

SHGC-144254 (e-PCR)
- UniSTS:174203

SHGC-57068 (e-PCR)
- UniSTS:64158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of anion channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: TRPM8 channel-associated factor 1

Names: TRP channel-associated factor 1; family with sequence similarity 115, member A; protein FAM115A

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.

mRNA and Protein(s)

NM_001206938.2 → NP_001193867.2 TRPM8 channel-associated factor 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, which results in the use of an early stop codon, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus when it is compared to isoform 1.

Source sequence(s)

AC004742, AC099548

Consensus CDS

CCDS56514.1

Related

ENSP00000348220.2, ENST00000355951.2

Conserved Domains (2) summary

pfam13402
Location:633 → 888

Peptidase_M60; Peptidase M60, enhancin and enhancin-like

pfam17291
Location:522 → 631

M60-like_N; N-terminal domain of M60-like peptidases
NM_001206941.2 → NP_001193870.1 TRPM8 channel-associated factor 1 isoform 3

See identical proteins and their annotated locations for NP_001193870.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has several differences in its 5' UTR, one of which results in the use of a downstream in-frame start codon, compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus when it is compared to isoform 1.

Source sequence(s)

AC004742, AC099548

UniProtKB/TrEMBL

B4DST7

Conserved Domains (1) summary

pfam13402
Location:92 → 464

Peptidase_M60; Peptidase M60, enhancin and enhancin-like
NM_014719.3 → NP_055534.2 TRPM8 channel-associated factor 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1).

Source sequence(s)

AC004742, AC099548

Consensus CDS

CCDS5886.1

UniProtKB/Swiss-Prot

A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2

Related

ENSP00000419235.1, ENST00000479870.6

Conserved Domains (1) summary

pfam13402
Location:515 → 888

Peptidase_M60; Peptidase M60, enhancin and enhancin-like