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

    Gene ID: 84260, updated on 2-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
    mouse all
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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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    Related articles in PubMed

    1. Fundamentals of ICANL accreditation. Katanick SL, et al. J Nucl Med Technol, 2005 Mar. PMID 15731016
    2. Outpatient therapeutic 131I for thyroid cancer. Panzegrau B, et al. J Nucl Med Technol, 2005 Mar. PMID 15731017
    3. Trichoplein/mitostatin regulates endoplasmic reticulum-mitochondria juxtaposition. Cerqua C, et al. EMBO Rep, 2010 Nov. PMID 20930847, Free PMC Article
    4. Decorin induces mitophagy in breast carcinoma cells via peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α) and mitostatin. Neill T, et al. J Biol Chem, 2014 Feb 21. PMID 24403067, Free PMC Article
    5. Band 3 modifications in Plasmodium falciparum-infected AA and CC erythrocytes assayed by autocorrelation analysis using quantum dots. Tokumasu F, et al. J Cell Sci, 2005 Mar 1. PMID 15731014

    See all (47) citations in PubMed

    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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    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

    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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