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    TTC36 tetratricopeptide repeat domain 36 [ Homo sapiens (human) ]

    Gene ID: 143941, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TTC36provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 36provided by HGNC
    Primary source
    HGNC:HGNC:33708
    See related
    Ensembl:ENSG00000172425 MIM:620701; AllianceGenome:HGNC:33708
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBP21
    Summary
    The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in liver (RPKM 51.1), kidney (RPKM 9.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC36 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118527474..118530993)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118546763..118550282)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118398189..118401708)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100131626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118272182-118273045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118273504-118274094 Neighboring gene ATP synthase membrane subunit g Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:118306179-118307176 and GRCh37_chr11:118307177-118308175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118308176-118309173 Neighboring gene Sharpr-MPRA regulatory region 11577 Neighboring gene lysine methyltransferase 2A Neighboring gene ReSE screen-validated silencer GRCh37_chr11:118358704-118358932 Neighboring gene TTC36 and KMT2A antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3947 Neighboring gene transmembrane protein 25 Neighboring gene intraflagellar transport 46 Neighboring gene ribosomal protein L5 pseudogene 30

    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. Heat Shock-Binding Protein 21 Regulates the Innate Immune Response to Viral Infection. Xu Y, et al. J Virol, 2022 Apr 13. PMID 35254105, Free PMC Article
    2. HBP21: a novel member of TPR motif family, as a potential chaperone of heat shock protein 70 in proliferative vitreoretinopathy (PVR) and breast cancer. Liu Q, et al. Mol Biotechnol, 2008 Nov. PMID 18587674
    3. HBP21, a chaperone of heat shock protein 70, functions as a tumor suppressor in hepatocellular carcinoma. Jiang L, et al. Carcinogenesis, 2015 Oct. PMID 26246424
    4. HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage. Xie Y, et al. Nat Commun, 2019 Sep 19. PMID 31537781, Free PMC Article
    5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heat Shock-Binding Protein 21 Regulates the Innate Immune Response to Viral Infection.
      Title: Heat Shock-Binding Protein 21 Regulates the Innate Immune Response to Viral Infection.
    2. As a chaperone of heat shock protein 70 (HSP70), HBP21 could inhibit interaction between HSP70 and Bax, increased Bax protein translocation from cytoplasm to mitochondria.
      Title: HBP21, a chaperone of heat shock protein 70, functions as a tumor suppressor in hepatocellular carcinoma.
    3. The newly discovered interaction between HBP21 and Hsp70 suggests that HBP21 may be involved in the inhibition of progression and metastasis of tumor cells.
      Title: HBP21: a novel member of TPR motif family, as a potential chaperone of heat shock protein 70 in proliferative vitreoretinopathy (PVR) and breast cancer.
    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

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tyrosine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tyrosine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 36
    Names
    HSP70 binding protein 21
    TPR repeat protein 36

    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_001080441.4 → NP_001073910.1  tetratricopeptide repeat protein 36 isoform a

      See identical proteins and their annotated locations for NP_001073910.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC146916, EU489483
      Consensus CDS
      CCDS31687.1
      UniProtKB/Swiss-Prot
      A6NLP5, B7ZW72, B9EJD8
      Related
      ENSP00000307640.4, ENST00000302783.10
      Conserved Domains (2) summary
      sd00006
      Location:51 → 79
      TPR; TPR repeat [structural motif]
      cl26005
      Location:80 → 154
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    2. NM_001346096.2 → NP_001333025.1  tetratricopeptide repeat protein 36 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      BC171913
      UniProtKB/Swiss-Prot
      A6NLP5
      Conserved Domains (2) summary
      sd00006
      Location:25 → 55
      TPR; TPR repeat [structural motif]
      cl26005
      Location:21 → 95
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    3. NM_001346097.2 → NP_001333026.1  tetratricopeptide repeat protein 36 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      BC171906
      UniProtKB/Swiss-Prot
      A6NLP5
      Conserved Domains (2) summary
      sd00006
      Location:25 → 55
      TPR; TPR repeat [structural motif]
      cl26005
      Location:21 → 95
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    4. NM_001346098.2 → NP_001333027.1  tetratricopeptide repeat protein 36 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AP000941, AW027968
      UniProtKB/Swiss-Prot
      A6NLP5

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118527474..118530993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118546763..118550282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NLP5.1 GenPept UniProtKB/Swiss-Prot:A6NLP5

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

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