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

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; 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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Trichoplein/mitostatin is a new regulator of mitochondria-endoplasmic reticulum juxtaposition.
Title: Trichoplein/mitostatin regulates endoplasmic reticulum-mitochondria juxtaposition.
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.
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.

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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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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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 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

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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)

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
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

109880667..109918069

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_017020024.1 → XP_016875513.1 trichoplein keratin filament-binding protein isoform X3
XM_047429668.1 → XP_047285624.1 trichoplein keratin filament-binding protein isoform X5
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
XM_047429667.1 → XP_047285623.1 trichoplein keratin filament-binding protein isoform X2
XM_017020025.3 → XP_016875514.1 trichoplein keratin filament-binding protein isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

109856359..109893762

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8NAG0, Q9BT92
XM_054373466.1 → XP_054229441.1 trichoplein keratin filament-binding protein isoform X3
XM_054373468.1 → XP_054229443.1 trichoplein keratin filament-binding protein isoform X5
XM_054373464.1 → XP_054229439.1 trichoplein keratin filament-binding protein isoform X1

UniProtKB/Swiss-Prot

Q8NAG0, Q9BT92
XM_054373465.1 → XP_054229440.1 trichoplein keratin filament-binding protein isoform X2
XM_054373467.1 → XP_054229442.1 trichoplein keratin filament-binding protein isoform X4