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TCHP trichoplein keratin filament binding [ Homo sapiens (human) ]

Gene ID: 84260, updated on 23-Nov-2021

Summary

Official Symbol
TCHPprovided by HGNC
Official Full Name
trichoplein keratin filament bindingprovided by HGNC
Primary source
HGNC:HGNC:28135
See related
Ensembl:ENSG00000139437 MIM:612654
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
TpMs
Expression
Ubiquitous expression in skin (RPKM 11.4), testis (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See TCHP in Genome Data Viewer
Location:
12q24.11
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109880667..109918069)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110338079..110355874)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369975 Neighboring gene glycolipid transfer protein Neighboring gene RNA, 7SL, cytoplasmic 441, pseudogene Neighboring gene GIT ArfGAP 2 Neighboring gene ankyrin repeat domain 13A Neighboring gene Sharpr-MPRA regulatory region 2512

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10854

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in apical cortex IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in desmosome IEA
Inferred from Electronic Annotation
more info
 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in keratin filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
trichoplein keratin filament-binding protein
Names
mitochondrial protein with oncostatic activity
mitostatin
tumor suppressor 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_001143852.2NP_001137324.1  trichoplein keratin filament-binding protein

    See identical proteins and their annotated locations for NP_001137324.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK000079, AK092736, AY007230, BC004285
    Consensus CDS
    CCDS9137.1
    UniProtKB/Swiss-Prot
    Q9BT92
    UniProtKB/TrEMBL
    A0A024RBM9
    Related
    ENSP00000384520.4, ENST00000405876.9
    Conserved Domains (2) summary
    pfam13868
    Location:146494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13236
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_032300.5NP_115676.1  trichoplein keratin filament-binding protein

    See identical proteins and their annotated locations for NP_115676.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK000079, AY007230
    Consensus CDS
    CCDS9137.1
    UniProtKB/Swiss-Prot
    Q9BT92
    UniProtKB/TrEMBL
    A0A024RBM9
    Related
    ENSP00000324404.5, ENST00000312777.9
    Conserved Domains (2) summary
    pfam13868
    Location:146494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13236
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109880667..109918069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538837.2XP_011537139.1  trichoplein keratin filament-binding protein isoform X1

    See identical proteins and their annotated locations for XP_011537139.1

    UniProtKB/Swiss-Prot
    Q9BT92
    UniProtKB/TrEMBL
    A0A024RBM9
    Conserved Domains (2) summary
    pfam13868
    Location:146494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13236
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_017020024.1XP_016875513.1  trichoplein keratin filament-binding protein isoform X2

  3. XM_017020025.2XP_016875514.1  trichoplein keratin filament-binding protein isoform X3

  4. XM_011538836.2XP_011537138.1  trichoplein keratin filament-binding protein isoform X1

    See identical proteins and their annotated locations for XP_011537138.1

    UniProtKB/Swiss-Prot
    Q9BT92
    UniProtKB/TrEMBL
    A0A024RBM9
    Conserved Domains (2) summary
    pfam13868
    Location:146494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13236
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_001748901.1 RNA Sequence

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