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    TTC4 tetratricopeptide repeat domain 4 [ Homo sapiens (human) ]

    Gene ID: 7268, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TTC4provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 4provided by HGNC
    Primary source
    HGNC:HGNC:12394
    See related
    Ensembl:ENSG00000243725 MIM:606753; AllianceGenome:HGNC:12394
    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
    CNS1
    Summary
    This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in testis (RPKM 12.6), ovary (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC4 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54715861..54742657)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54596115..54622890)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55181534..55208330)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1065 Neighboring gene family with sequence similarity 151 member A Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:55102633-55103264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106005-55106518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106519-55107031 Neighboring gene MPRA-validated peak242 silencer Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene maestro heat like repeat family member 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55145240-55146100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55164253-55164753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55163752-55164252 Neighboring gene MPRA-validated peak243 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55181271-55181772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55229956-55230579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55246797-55247339 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55247340-55247881 Neighboring gene uncharacterized LOC124904182 Neighboring gene Sharpr-MPRA regulatory region 10932 Neighboring gene tetratricopeptide repeat domain 22

    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. TTC4, a novel human gene containing the tetratricopeptide repeat and mapping to the region of chromosome 1p31 that is frequently deleted in sporadic breast cancer. Su G, et al. Genomics, 1999 Jan 15. PMID 9933562
    2. Genomic structure of the human tetratricopeptide repeat-containing gene, TTC4, from chromosome region 1p31 and mutation analysis in breast cancers. Su G, et al. Int J Mol Med, 2000 Feb. PMID 10639601
    3. Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells. He X, et al. FASEB J, 2020 Sep. PMID 33000523
    4. Molecular cochaperones: tumor growth and cancer treatment. Calderwood SK. Scientifica (Cairo), 2013. PMID 24278769, Free PMC Article
    5. TTC4, a novel candidate tumor suppressor gene at 1p31 is often mutated in malignant melanoma of the skin. Poetsch M, et al. Oncogene, 2000 Nov 23. PMID 11126369

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells.
      Title: Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells.
    2. Study identified TTC4 as a TBK1 interactor and positive regulator of Sendai virus-induced innate immunity.
      Title: Quantitative Proteomics Identified TTC4 as a TBK1 Interactor and a Positive Regulator of SeV-Induced Innate Immunity.
    3. Studies identi fi ed a novel signal of nuclear localization (NLS) in all MSL1 protein isoforms and found that the combination of both NLS allows for its intra-nuclear focal accumulation and nuclear transport of TTC4 while all MSL1 isoforms affect H4K16Ac.
      Title: Two distinct nuclear localization signals in mammalian MSL1 regulate its function.
    4. TTC4 is highly expressed in malignant melanoma
      Title: The human TPR protein TTC4 is a putative Hsp90 co-chaperone which interacts with CDC6 and shows alterations in transformed cells.
    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

    Clone Names

    • MGC5097, FLJ41930, DKFZp781B0622

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Hsp90 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 4
    Names
    TPR repeat protein 4

    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.

    Genomic

    1. NG_029058.1 RefSeqGene

      Range
      5040..31836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291333.2 → NP_001278262.1  tetratricopeptide repeat protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001278262.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL139244
      Conserved Domains (3) summary
      sd00006
      Location:79 → 107
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:78 → 148
      TPR_11; TPR repeat
      pfam13432
      Location:123 → 181
      TPR_16; Tetratricopeptide repeat

    2. NM_004623.5 → NP_004614.3  tetratricopeptide repeat protein 4 isoform 1

      See identical proteins and their annotated locations for NP_004614.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK025524, AK222562, DB362353
      Consensus CDS
      CCDS596.1
      UniProtKB/Swiss-Prot
      O95801, Q53Y95, Q5TA96, Q9H3I2
      Related
      ENSP00000360329.3, ENST00000371281.4
      Conserved Domains (4) summary
      sd00006
      Location:79 → 107
      TPR; TPR repeat [structural motif]
      pfam05766
      Location:173 → 236
      NinG; Bacteriophage Lambda NinG protein
      pfam13414
      Location:78 → 148
      TPR_11; TPR repeat
      pfam13432
      Location:123 → 181
      TPR_16; Tetratricopeptide repeat

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54715861..54742657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54596115..54622890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95801.3 GenPept UniProtKB/Swiss-Prot:O95801

    Gene LinkOut

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

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