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

    Gene ID: 283237, updated on 6-Oct-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001318812.2NP_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:2127
      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:82152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:836
      TPR; TPR repeat [structural motif]
    2. NM_001318813.2NP_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:2127
      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:82152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:836
      TPR; TPR repeat [structural motif]
    3. NM_001318814.2NP_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:568
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:2353
      TPR; TPR repeat [structural motif]
    4. NM_001318815.2NP_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:568
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:2353
      TPR; TPR repeat [structural motif]
    5. NM_001318816.2NP_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:568
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:2353
      TPR; TPR repeat [structural motif]
    6. NM_173810.4NP_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:2127
      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:82152
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:836
      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_047426827.1XP_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_054368534.1XP_054224509.1  tetratricopeptide repeat protein 9C isoform X1