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    TTC9C tetratricopeptide repeat domain 9C [ Homo sapiens (human) ]

    Gene ID: 283237, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TTC9Cprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 9Cprovided by HGNC
    Primary source
    HGNC:HGNC:28432
    See related
    Ensembl:ENSG00000162222 AllianceGenome:HGNC:28432
    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
    Expression
    Ubiquitous expression in lymph node (RPKM 5.7), ovary (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC9C in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62728049..62738636)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62717443..62728026)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62495649..62506108)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HNRNPUL2-BSCL2 readthrough (NMD candidate) Neighboring gene BSCL2 lipid droplet biogenesis associated, seipin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62473607-62474280 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:62475600-62476799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4840 Neighboring gene G protein subunit gamma 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62482895-62483396 Neighboring gene heterogeneous nuclear ribonucleoprotein U like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62520285-62521162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62522043-62522920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62524299-62524825 Neighboring gene zinc finger and BTB domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4844 Neighboring gene RNA polymerase II subunit G

    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
    • 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. A mitochondrial SCF-FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease. Cao Y, et al. EMBO J, 2023 Jul 3. PMID 36896912, Free PMC Article
    2. A proteomic investigation of ligand-dependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. Gano JJ, et al. Mol Cell Proteomics, 2010 Feb. PMID 19875381, Free PMC Article
    3. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. Martins-de-Souza D, et al. Eur Arch Psychiatry Clin Neurosci, 2009 Apr. PMID 19165527
    4. Identification of FBXO25-interacting proteins using an integrated proteomics approach. Teixeira FR, et al. Proteomics, 2010 Aug. PMID 20473970, Free PMC Article
    5. Proximity labeling reveals dynamic changes in the SQSTM1 protein network. Rondón-Ortiz AN, et al. J Biol Chem, 2024 Sep. PMID 39098523, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29649

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 9C
    Names
    TPR repeat protein 9C

    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_001318812.2 → NP_001305741.1  tetratricopeptide repeat protein 9C isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      BC032123, BG720745
      Consensus CDS
      CCDS8033.1
      UniProtKB/Swiss-Prot
      Q8N5M4, Q8WYY7
      UniProtKB/TrEMBL
      E9PKV8
      Related
      ENSP00000435282.1, ENST00000530625.5
      Conserved Domains (3) summary
      TIGR00990
      Location:2 → 127
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      TIGR02917
      Location:82 → 152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:8 → 36
      TPR; TPR repeat [structural motif]

    2. NM_001318813.2 → NP_001305742.1  tetratricopeptide repeat protein 9C isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      BC032123, BQ050575
      Consensus CDS
      CCDS8033.1
      UniProtKB/Swiss-Prot
      Q8N5M4, Q8WYY7
      UniProtKB/TrEMBL
      E9PKV8
      Related
      ENSP00000434340.1, ENST00000532583.1
      Conserved Domains (3) summary
      TIGR00990
      Location:2 → 127
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      TIGR02917
      Location:82 → 152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:8 → 36
      TPR; TPR repeat [structural motif]

    3. NM_001318814.2 → NP_001305743.1  tetratricopeptide repeat protein 9C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) 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 4, 5, and 6 all encode the same isoform (b).
      Source sequence(s)
      BC032123, BX421356
      UniProtKB/Swiss-Prot
      Q8N5M4
      Conserved Domains (2) summary
      TIGR02917
      Location:5 → 68
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:23 → 53
      TPR; TPR repeat [structural motif]

    4. NM_001318815.2 → NP_001305744.1  tetratricopeptide repeat protein 9C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) 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 4, 5, and 6 all encode the same isoform (b).
      Source sequence(s)
      BC032123, CN430374
      UniProtKB/Swiss-Prot
      Q8N5M4
      Conserved Domains (2) summary
      TIGR02917
      Location:5 → 68
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:23 → 53
      TPR; TPR repeat [structural motif]

    5. NM_001318816.2 → NP_001305745.1  tetratricopeptide repeat protein 9C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) 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 4, 5, and 6 all encode the same isoform (b).
      Source sequence(s)
      BC032123, CN430377
      UniProtKB/Swiss-Prot
      Q8N5M4
      Conserved Domains (2) summary
      TIGR02917
      Location:5 → 68
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:23 → 53
      TPR; TPR repeat [structural motif]

    6. NM_173810.4 → NP_776171.1  tetratricopeptide repeat protein 9C isoform a

      See identical proteins and their annotated locations for NP_776171.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      BC032123
      Consensus CDS
      CCDS8033.1
      UniProtKB/Swiss-Prot
      Q8N5M4, Q8WYY7
      UniProtKB/TrEMBL
      E9PKV8
      Related
      ENSP00000325266.3, ENST00000316461.9
      Conserved Domains (3) summary
      TIGR00990
      Location:2 → 127
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      TIGR02917
      Location:82 → 152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:8 → 36
      TPR; TPR repeat [structural motif]

    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
      62728049..62738636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426827.1 → XP_047282783.1  tetratricopeptide repeat protein 9C isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62717443..62728026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368534.1 → XP_054224509.1  tetratricopeptide repeat protein 9C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5M4.1 GenPept UniProtKB/Swiss-Prot:Q8N5M4

    Gene LinkOut

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

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