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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
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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

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