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    TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein [ Homo sapiens (human) ]

    Gene ID: 26133, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TRPC4APprovided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily C member 4 associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16181
    See related
    Ensembl:ENSG00000100991 MIM:608430; AllianceGenome:HGNC:16181
    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
    TRUSS; TRRP4AP; PPP1R158; C20orf188
    Summary
    Enables phosphatase binding activity and ubiquitin ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Part of Cul4A-RING E3 ubiquitin ligase complex. Is active in Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 20.6), spleen (RPKM 19.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35002404..35092807, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36717007..36813143, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33590207..33680610, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17771 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:33554901-33555058 Neighboring gene glutathione synthetase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33568001-33568552 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33571861-33572412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33573515-33574066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33574067-33574618 Neighboring gene myosin heavy chain 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33586565-33587064 Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene MPRA-validated peak4198 silencer Neighboring gene RNA, U6 small nuclear 407, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17773 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:33678296-33678855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12853 Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689161-33689662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689663-33690162 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:33721175-33722374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33734321-33734924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17774 Neighboring gene ER degradation enhancing alpha-mannosidase like protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33761988-33762690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33763393-33764095 Neighboring gene protein C receptor Neighboring gene RNA, 5S ribosomal pseudogene 483

    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 Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism. Choukair D, et al. Horm Res Paediatr, 2020. PMID 32428920
    2. Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis. Poduslo SE, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Jan 5. PMID 18449908
    3. Ubiquitin ligase TRUSS augments the expression of interleukin-10 via proteasomal processing of NF-κB1/p105 to NF-κB/p50. Jamal A, et al. Cell Signal, 2020 Nov. PMID 32889079
    4. TRUSS Exacerbates NAFLD Development by Promoting IκBα Degradation in Mice. Yu CJ, et al. Hepatology, 2018 Nov. PMID 29704259
    5. The frequency of the TRPC4AP haplotype in Alzheimer's patients. Poduslo SE, et al. Neurosci Lett, 2009 Feb 6. PMID 19059308

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
      Title: Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
    2. Hepatocyte TRUSS promotes pathological stimuli-induced non alcoholic fatty liver disease and metabolic disorders, through activation of NF-kappaB by promoting ubiquitination and degradation of IkappaBalpha
      Title: TRUSS Exacerbates NAFLD Development by Promoting IκBα Degradation in Mice.
    3. TRUSS is a novel substrate of E3 ligase Skp2.
      Title: The G1 phase E3 ubiquitin ligase TRUSS that gets deregulated in human cancers is a novel substrate of the S-phase E3 ubiquitin ligase Skp2.
    4. The latent classification method of analysis showed that the TRPC4AP H1 haplotype was characteristic of Alzheimer's patients, with ages-of-onset between 66 and 80 years.
      Title: The frequency of the TRPC4AP haplotype in Alzheimer's patients.
    5. These findings suggest that TNF-R1, TRUSS, and TRPC4 augment Ca(2+) loading of endoplasmic reticulum Ca(2+) stores in the context of m1AchR stimulation
      Title: TRUSS, TNF-R1, and TRPC ion channels synergistically reverse endoplasmic reticulum Ca2+ storage reduction in response to m1 muscarinic acetylcholine receptor signaling.
    6. TRPC4AP/TRUSS binds specifically to the Myc C terminus and promotes its ubiquitination and destruction through the recognition of evolutionarily conserved domains in the Myc N terminus
      Title: Myc protein is stabilized by suppression of a novel E3 ligase complex in cancer cells.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis.
    8. results suggest that TRPC4AP is involved with the disease in these late-onset Alzheimer's families
      Title: Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: The frequency of the TRPC4AP haplotype in Alzheimer's patients.
    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
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    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

    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 channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in hair follicle maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul4A-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    short transient receptor potential channel 4-associated protein
    Names
    TNF-receptor ubiquitous scaffolding/signaling protein
    TRP4-associated protein
    protein phosphatase 1, regulatory subunit 158
    trpc4-associated protein
    tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein

    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_015638.3 → NP_056453.1  short transient receptor potential channel 4-associated protein isoform a

      See identical proteins and their annotated locations for NP_056453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC008836, BC013144, BI488542, BM149369, BM723903, CF125531
      Consensus CDS
      CCDS13246.1
      UniProtKB/Swiss-Prot
      E1P5Q0, E1P5Q1, Q8TEL6, Q96H82, Q9BVB8, Q9H429, Q9UFS6
      UniProtKB/TrEMBL
      B2RDK8
      Related
      ENSP00000252015.2, ENST00000252015.3
      Conserved Domains (1) summary
      pfam12463
      Location:407 → 713
      DUF3689; Protein of unknown function (DUF3689)

    2. NM_199368.2 → NP_955400.1  short transient receptor potential channel 4-associated protein isoform b

      See identical proteins and their annotated locations for NP_955400.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1, resulting in an isoform (b) which has the same N- and C-termini but which is shorter compared to isoform a.
      Source sequence(s)
      BC008836, BC013144, BI488542, BM149369, BM723903, CF125531
      Consensus CDS
      CCDS46591.1
      UniProtKB/TrEMBL
      B2RDK8
      Related
      ENSP00000400614.1, ENST00000451813.6
      Conserved Domains (1) summary
      pfam12463
      Location:399 → 705
      DUF3689; Protein of unknown function (DUF3689)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35002404..35092807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440096.1 → XP_047296052.1  short transient receptor potential channel 4-associated protein isoform X2

    2. XM_047440095.1 → XP_047296051.1  short transient receptor potential channel 4-associated protein isoform X1

      UniProtKB/Swiss-Prot
      E1P5Q0, E1P5Q1, Q8TEL6, Q96H82, Q9BVB8, Q9H429, Q9UFS6

    3. XM_047440102.1 → XP_047296058.1  short transient receptor potential channel 4-associated protein isoform X9

      UniProtKB/TrEMBL
      B4DW48

    4. XM_047440101.1 → XP_047296057.1  short transient receptor potential channel 4-associated protein isoform X8

    5. XM_047440098.1 → XP_047296054.1  short transient receptor potential channel 4-associated protein isoform X5

    6. XM_047440097.1 → XP_047296053.1  short transient receptor potential channel 4-associated protein isoform X4

    7. XM_017027799.3 → XP_016883288.1  short transient receptor potential channel 4-associated protein isoform X3

      UniProtKB/TrEMBL
      B2RDK8

    8. XM_047440099.1 → XP_047296055.1  short transient receptor potential channel 4-associated protein isoform X6

    9. XM_047440100.1 → XP_047296056.1  short transient receptor potential channel 4-associated protein isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36717007..36813143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323338.1 → XP_054179313.1  short transient receptor potential channel 4-associated protein isoform X2

    2. XM_054323337.1 → XP_054179312.1  short transient receptor potential channel 4-associated protein isoform X1

      UniProtKB/Swiss-Prot
      E1P5Q0, E1P5Q1, Q8TEL6, Q96H82, Q9BVB8, Q9H429, Q9UFS6

    3. XM_054323345.1 → XP_054179320.1  short transient receptor potential channel 4-associated protein isoform X9

      UniProtKB/TrEMBL
      B4DW48

    4. XM_054323344.1 → XP_054179319.1  short transient receptor potential channel 4-associated protein isoform X8

    5. XM_054323341.1 → XP_054179316.1  short transient receptor potential channel 4-associated protein isoform X5

    6. XM_054323340.1 → XP_054179315.1  short transient receptor potential channel 4-associated protein isoform X4

    7. XM_054323339.1 → XP_054179314.1  short transient receptor potential channel 4-associated protein isoform X3

    8. XM_054323342.1 → XP_054179317.1  short transient receptor potential channel 4-associated protein isoform X6

    9. XM_054323343.1 → XP_054179318.1  short transient receptor potential channel 4-associated protein isoform X7

    RNA

    1. XR_008485250.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TEL6.2 GenPept UniProtKB/Swiss-Prot:Q8TEL6

    Gene LinkOut

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

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