Aliases for TCHP Gene

Aliases for TCHP Gene

  • Trichoplein Keratin Filament Binding 2 3 5
  • Mitostatin 2 3 4
  • Mitochondrial Protein With Oncostatic Activity 3 4
  • Trichoplein Keratin Filament-Binding Protein 3 4
  • Tumor Suppressor Protein 3 4
  • Trichoplein, Keratin Filament Binding 2
  • Protein TCHP 4
  • TpMs 3

External Ids for TCHP Gene

Previous GeneCards Identifiers for TCHP Gene

  • GC12P108802
  • GC12P110338
  • GC12P107354

Summaries for TCHP Gene

GeneCards Summary for TCHP Gene

TCHP (Trichoplein Keratin Filament Binding) is a Protein Coding gene. Diseases associated with TCHP include Cecum Adenoma and Cecal Benign Neoplasm. Among its related pathways are Cytoskeleton remodeling Neurofilaments.

UniProtKB/Swiss-Prot Summary for TCHP Gene

  • Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598).

Gene Wiki entry for TCHP Gene

Additional gene information for TCHP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCHP Gene

Genomics for TCHP Gene

GeneHancer (GH) Regulatory Elements for TCHP Gene

Promoters and enhancers for TCHP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCHP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCHP

Top Transcription factor binding sites by QIAGEN in the TCHP gene promoter:
  • GATA-1
  • LUN-1
  • Pax-4a
  • RFX1
  • STAT5A

Genomic Locations for TCHP Gene

Genomic Locations for TCHP Gene
chr12:109,880,680-109,983,841
(GRCh38/hg38)
Size:
103,162 bases
Orientation:
Plus strand
chr12:110,338,069-110,421,646
(GRCh37/hg19)
Size:
83,578 bases
Orientation:
Plus strand

Genomic View for TCHP Gene

Genes around TCHP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCHP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCHP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCHP Gene

Proteins for TCHP Gene

  • Protein details for TCHP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT92-TCHP_HUMAN
    Recommended name:
    Trichoplein keratin filament-binding protein
    Protein Accession:
    Q9BT92
    Secondary Accessions:
    • Q8NAG0

    Protein attributes for TCHP Gene

    Size:
    498 amino acids
    Molecular mass:
    61072 Da
    Quaternary structure:
    • Interacts specifically with keratin proteins including, KRT5, KRT6A, KRT8, KRT14, KRT16 and KRT18 (PubMed:15731013). Interacts with KCTD17 (PubMed:25270598).

neXtProt entry for TCHP Gene

Post-translational modifications for TCHP Gene

  • Ubiquitinated. Ubiquitination by the BCR(KCTD17) E3 ubiquitin ligase complex results in proteasomal degradation, and induces ciliogenesis.
  • Ubiquitination at Lys50 and Lys57
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TCHP Gene

Domains & Families for TCHP Gene

Gene Families for TCHP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TCHP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCHP Gene

GenScript: Design optimal peptide antigens:
  • Tumor suppressor protein (TCHP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BT92

UniProtKB/Swiss-Prot:

TCHP_HUMAN :
  • Belongs to the TCHP family.
Family:
  • Belongs to the TCHP family.
genes like me logo Genes that share domains with TCHP: view

Function for TCHP Gene

Molecular function for TCHP Gene

UniProtKB/Swiss-Prot Function:
Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598).

Phenotypes From GWAS Catalog for TCHP Gene

Gene Ontology (GO) - Molecular Function for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15731013
genes like me logo Genes that share ontologies with TCHP: view
genes like me logo Genes that share phenotypes with TCHP: view

Animal Models for TCHP Gene

MGI Knock Outs for TCHP:
  • Tchp Tchp<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCHP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TCHP Gene

Localization for TCHP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCHP Gene

Cytoplasm, cytoskeleton. Cytoplasm. Cell membrane. Mitochondrion. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCHP gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 5
cytosol 5
nucleus 4
extracellular 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 18931701
GO:0005739 mitochondrion IDA,IEA 18931701
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TCHP: view

Pathways & Interactions for TCHP Gene

PathCards logo

SuperPathways for TCHP Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Neurofilaments
.32
genes like me logo Genes that share pathways with TCHP: view

Pathways by source for TCHP Gene

1 GeneGo (Thomson Reuters) pathway for TCHP Gene
  • Cytoskeleton remodeling Keratin filaments

Gene Ontology (GO) - Biological Process for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IBA,IDA 18931701
GO:0030030 cell projection organization IEA --
GO:0030308 negative regulation of cell growth IDA 18931701
GO:1902018 negative regulation of cilium assembly IMP 25270598
genes like me logo Genes that share ontologies with TCHP: view

No data available for SIGNOR curated interactions for TCHP Gene

Drugs & Compounds for TCHP Gene

No Compound Related Data Available

Transcripts for TCHP Gene

mRNA/cDNA for TCHP Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCHP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCHP Gene

No ASD Table

Relevant External Links for TCHP Gene

GeneLoc Exon Structure for
TCHP

Expression for TCHP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCHP Gene

Protein differential expression in normal tissues from HIPED for TCHP Gene

This gene is overexpressed in Heart (59.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCHP Gene



Protein tissue co-expression partners for TCHP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCHP

SOURCE GeneReport for Unigene cluster for TCHP Gene:

Hs.410924

mRNA Expression by UniProt/SwissProt for TCHP Gene:

Q9BT92-TCHP_HUMAN
Tissue specificity: Expressed at high levels in normal urothelial and breast epithelial cells. Also expressed in the smooth muscle and endothelial cells. Reduced expression seen in advanced bladder and breast carcinomas (at protein level). Ubiquitous. Expressed at highest levels in the heart, skeletal muscle, kidney, liver and testis.

Evidence on tissue expression from TISSUES for TCHP Gene

  • Intestine(2)
  • Skin(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with TCHP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCHP Gene

Orthologs for TCHP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCHP 31 30
  • 98.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TCHP 31 30
  • 86.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TCHP 31 30
  • 85.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tchp 17 31 30
  • 80.95 (n)
rat
(Rattus norvegicus)
Mammalia Tchp 30
  • 79.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCHP 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCHP 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCHP 31 30
  • 63.66 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tchp 30
  • 61.91 (n)
zebrafish
(Danio rerio)
Actinopterygii tchp 31 30
  • 60.91 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for TCHP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCHP Gene

ENSEMBL:
Gene Tree for TCHP (if available)
TreeFam:
Gene Tree for TCHP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCHP: view image

Paralogs for TCHP Gene

No data available for Paralogs for TCHP Gene

Variants for TCHP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCHP Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs200027650 A pancreatic carcinoma sample p.Glu93Lys
rs202208566 A gastric carcinoma sample p.Ser44Pro
rs10774978 - p.Lys127Arg
rs16940680 - p.Glu417Lys

Additional dbSNP identifiers (rs#s) for TCHP Gene

Variation tolerance for TCHP Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCHP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCHP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TCHP Gene

Disorders for TCHP Gene

MalaCards: The human disease database

(17) MalaCards diseases for TCHP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cecum adenoma
  • caecum adenoma
cecal benign neoplasm
  • cecum neoplasm
breast liposarcoma
  • liposarcoma of the breast
retinal cancer
  • malignant neoplasm of retina
bile duct cystadenoma
  • cystadenoma of the bile duct
- elite association - COSMIC cancer census association via MalaCards
Search TCHP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TCHP

genes like me logo Genes that share disorders with TCHP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCHP Gene

Publications for TCHP Gene

  1. Identification of trichoplein, a novel keratin filament-binding protein. (PMID: 15731013) Nishizawa M … Inagaki M (Journal of cell science 2005) 2 3 4 23 54
  2. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. (PMID: 25270598) Kasahara K … Inagaki M (Nature communications 2014) 3 4 54
  3. Trichoplein/mitostatin regulates endoplasmic reticulum-mitochondria juxtaposition. (PMID: 20930847) Cerqua C … Scorrano L (EMBO reports 2010) 2 3 54
  4. MITOSTATIN, a putative tumor suppressor on chromosome 12q24.1, is downregulated in human bladder and breast cancer. (PMID: 18931701) Vecchione A … Baffa R (Oncogene 2009) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for TCHP Gene

Sources for TCHP Gene