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

Gene ID: 84260, updated on 14-Nov-2024

Summary

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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; AllianceGenome:HGNC:28135
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
Summary
Involved in apoptotic process; negative regulation of cell growth; and negative regulation of cilium assembly. Located in several cellular components, including apical cortex; cytoskeleton; and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
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

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See TCHP in Genome Data Viewer
Location:
12q24.11
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109880667..109918069)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109856359..109893762)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 4844 Neighboring gene glycolipid transfer protein Neighboring gene RNA, 7SL, cytoplasmic 441, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4845 Neighboring gene uncharacterized LOC124903012 Neighboring gene NANOG hESC enhancer GRCh37_chr12:110318928-110319429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4847 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110337802-110338642 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:110338643-110339483 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110353916-110354160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110358257-110358757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110361416-110362271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110362776-110363756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110363757-110364736 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110370433-110371632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110384533-110385204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110385205-110385876 Neighboring gene GIT ArfGAP 2 Neighboring gene uncharacterized LOC124903013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6990 Neighboring gene ankyrin repeat domain 13A Neighboring gene Sharpr-MPRA regulatory region 2512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6991 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110460576-110461076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:110465819-110467018

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 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?
  1. Soluble matrix-derived cues being transduced downstream of receptor engagement converge upon a newly-discovered nexus of autophagic machinery consisting of Peg3 for endothelial cell autophagy and mitostatin for tumor cell mitophagy.
    Title: Decorin is a devouring proteoglycan: Remodeling of intracellular catabolism via autophagy and mitophagy.
  2. Ndel1 acts as a novel upstream regulator of the trichoplein-Aurora A pathway to inhibit primary cilia assembly.
    Title: Ndel1 suppresses ciliogenesis in proliferating cells by regulating the trichoplein-Aurora A pathway.
  3. These findings underscore the complexity of PGC-1alpha-mediated mitochondrial homeostasis and establish mitostatin as a key regulator of tumor cell mitophagy and angiostasis.
    Title: Decorin induces mitophagy in breast carcinoma cells via peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α) and mitostatin.
  4. Trichoplein controls microtubule anchoring at the centrosome by binding to Odf2 and ninein.
    Title: Trichoplein controls microtubule anchoring at the centrosome by binding to Odf2 and ninein.
  5. Trichoplein/mitostatin is a new regulator of mitochondria-endoplasmic reticulum juxtaposition.
    Title: Trichoplein/mitostatin regulates endoplasmic reticulum-mitochondria juxtaposition.
  6. MITOSTATIN was found within a 3.2-kb transcript for an approximately 62 kDa mitochondrial protein with tumor suppressor activity. It inhibits cell growth, is proapoptotic and downregulates Hsp27.
    Title: MITOSTATIN, a putative tumor suppressor on chromosome 12q24.1, is downregulated in human bladder and breast cancer.
  7. trichoplein is a keratin 8/18-binding protein that may be involved in the organization of the apical network of keratin filaments and desmosomes in simple epithelial cells
    Title: Identification of trichoplein, a novel keratin filament-binding protein.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
located_in keratin filament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP 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

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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_001143852.2 → NP_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
    Q8NAG0, Q9BT92
    Related
    ENSP00000384520.4, ENST00000405876.9
    Conserved Domains (2) summary
    pfam13868
    Location:146 → 494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13 → 236
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_032300.5 → NP_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
    Q8NAG0, Q9BT92
    Related
    ENSP00000324404.5, ENST00000312777.9
    Conserved Domains (2) summary
    pfam13868
    Location:146 → 494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13 → 236
    SMC_N; RecF/RecN/SMC N terminal domain

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_000012.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011537139.1

    UniProtKB/Swiss-Prot
    Q8NAG0, Q9BT92
    Conserved Domains (2) summary
    pfam13868
    Location:146 → 494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13 → 236
    SMC_N; RecF/RecN/SMC N terminal domain

  2. XM_017020024.1 → XP_016875513.1  trichoplein keratin filament-binding protein isoform X3

  3. XM_047429668.1 → XP_047285624.1  trichoplein keratin filament-binding protein isoform X5

  4. XM_011538836.3 → XP_011537138.1  trichoplein keratin filament-binding protein isoform X1

    See identical proteins and their annotated locations for XP_011537138.1

    UniProtKB/Swiss-Prot
    Q8NAG0, Q9BT92
    Conserved Domains (2) summary
    pfam13868
    Location:146 → 494
    TPH; Trichohyalin-plectin-homology domain
    cl25732
    Location:13 → 236
    SMC_N; RecF/RecN/SMC N terminal domain

  5. XM_047429667.1 → XP_047285623.1  trichoplein keratin filament-binding protein isoform X2

  6. XM_017020025.3 → XP_016875514.1  trichoplein keratin filament-binding protein isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    109856359..109893762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373463.1 → XP_054229438.1  trichoplein keratin filament-binding protein isoform X1

    UniProtKB/Swiss-Prot
    Q8NAG0, Q9BT92

  2. XM_054373466.1 → XP_054229441.1  trichoplein keratin filament-binding protein isoform X3

  3. XM_054373468.1 → XP_054229443.1  trichoplein keratin filament-binding protein isoform X5

  4. XM_054373464.1 → XP_054229439.1  trichoplein keratin filament-binding protein isoform X1

    UniProtKB/Swiss-Prot
    Q8NAG0, Q9BT92

  5. XM_054373465.1 → XP_054229440.1  trichoplein keratin filament-binding protein isoform X2

  6. XM_054373467.1 → XP_054229442.1  trichoplein keratin filament-binding protein isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BT92.1 GenPept UniProtKB/Swiss-Prot:Q9BT92

Gene LinkOut

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