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

    Gene ID: 9747, updated on 10-Dec-2024

    Summary

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    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

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    See TCAF1 in Genome Data Viewer
    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_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L26 pseudogene 24 Neighboring gene family with sequence similarity 115, member C pseudogene Neighboring gene TRPM8 channel associated factor 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18727 Neighboring gene uncharacterized LOC112267988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26795 Neighboring gene uncharacterized LOC105375549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:143598237-143598774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143602842-143603342 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:143603883-143604439 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:143632675-143633174 Neighboring gene olfactory receptor family 2 subfamily F member 2 Neighboring gene olfactory receptor family 2 subfamily F member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. TCAF1 promotes TRPV2-mediated Ca(2+) release in response to cytosolic DNA to protect stressed replication forks. Kong L, et al. Nat Commun, 2024 May 30. PMID 38816425, Free PMC Article
    2. Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Hsieh P, et al. Nat Commun, 2021 Aug 25. PMID 34433829, Free PMC Article
    3. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology. Pandya NJ, et al. Cell Rep Med, 2021 Aug 17. PMID 34467244, Free PMC Article
    4. TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity. Gkika D, et al. J Cell Biol, 2015 Jan 5. PMID 25559186, Free PMC Article
    5. Sequences in the cytoplasmic tail of SARS-CoV-2 Spike facilitate expression at the cell surface and syncytia formation. Cattin-Ortolá J, et al. Nat Commun, 2021 Sep 9. PMID 34504087, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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

    Homology

    Clone Names

    • FLJ56782, KIAA0738

    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)

    1. 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

    2. 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

    3. 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

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      143851375..143902176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716191.3 → XP_006716254.1  TRPM8 channel-associated factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006716254.1

      UniProtKB/Swiss-Prot
      A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2
      Conserved Domains (1) summary
      pfam13402
      Location:515 → 888
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    2. XM_005250074.5 → XP_005250131.1  TRPM8 channel-associated factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005250131.1

      UniProtKB/Swiss-Prot
      A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2
      Conserved Domains (1) summary
      pfam13402
      Location:515 → 888
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    3. XM_005250075.4 → XP_005250132.1  TRPM8 channel-associated factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005250132.1

      UniProtKB/Swiss-Prot
      A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2
      Conserved Domains (1) summary
      pfam13402
      Location:515 → 888
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    4. XM_005250076.5 → XP_005250133.1  TRPM8 channel-associated factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005250133.1

      UniProtKB/Swiss-Prot
      A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2
      Conserved Domains (1) summary
      pfam13402
      Location:515 → 888
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    5. XM_005250077.3 → XP_005250134.1  TRPM8 channel-associated factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005250134.1

      UniProtKB/Swiss-Prot
      A8K6E0, Q75KM8, Q75KM9, Q7L665, Q9BW63, Q9Y4C2
      Conserved Domains (1) summary
      pfam13402
      Location:515 → 888
      Peptidase_M60; Peptidase M60, enhancin and enhancin-like

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654714.1 Reference GRCh38.p14 PATCHES

      Range
      395677..446423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332176.1 → XP_054188151.1  TRPM8 channel-associated factor 1 isoform X1

    2. XM_054332172.1 → XP_054188147.1  TRPM8 channel-associated factor 1 isoform X1

    3. XM_054332174.1 → XP_054188149.1  TRPM8 channel-associated factor 1 isoform X1

    4. XM_054332173.1 → XP_054188148.1  TRPM8 channel-associated factor 1 isoform X1

    5. XM_054332175.1 → XP_054188150.1  TRPM8 channel-associated factor 1 isoform X1

    6. XM_054332177.1 → XP_054188152.1  TRPM8 channel-associated factor 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      145131725..145182539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359420.1 → XP_054215395.1  TRPM8 channel-associated factor 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4C2.3 GenPept UniProtKB/Swiss-Prot:Q9Y4C2

    Gene LinkOut

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

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