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    CCDC93 coiled-coil domain containing 93 [ Homo sapiens (human) ]

    Gene ID: 54520, updated on 7-Apr-2024

    Summary

    Official Symbol
    CCDC93provided by HGNC
    Official Full Name
    coiled-coil domain containing 93provided by HGNC
    Primary source
    HGNC:HGNC:25611
    See related
    Ensembl:ENSG00000125633 MIM:620553; AllianceGenome:HGNC:25611
    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
    Summary
    Involved in Golgi to plasma membrane transport and endocytic recycling. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.7), testis (RPKM 7.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCDC93 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (117915481..118014070, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118348803..118447355, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (118673057..118771646, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:118615796-118616748 Neighboring gene 5-hydroxytryptamine receptor 5B, pseudogene Neighboring gene uncharacterized LOC101929908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11895 Neighboring gene RNA, 7SL, cytoplasmic 111, pseudogene Neighboring gene uncharacterized LOC102723413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16438

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10996, FLJ25197, MGC13033

    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 Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Golgi to plasma membrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 93

    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_019044.5NP_061917.3  coiled-coil domain-containing protein 93

      See identical proteins and their annotated locations for NP_061917.3

      Status: VALIDATED

      Source sequence(s)
      AC009404, AY726577, BC012052, BC028609, BU621185
      Consensus CDS
      CCDS2121.2
      UniProtKB/Swiss-Prot
      A8K3V7, Q4LE78, Q53TJ2, Q567U6, Q8TBX5, Q9H6R5, Q9NV15
      UniProtKB/TrEMBL
      F8W9X7
      Related
      ENSP00000365477.2, ENST00000376300.7
      Conserved Domains (2) summary
      pfam08202
      Location:212398
      MIS13; Mis12-Mtw1 protein family
      pfam09762
      Location:29206
      KOG2701; Coiled-coil domain-containing protein (DUF2037)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      117915481..118014070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511359.2XP_011509661.2  coiled-coil domain-containing protein 93 isoform X1

    2. XM_011511361.1XP_011509663.1  coiled-coil domain-containing protein 93 isoform X2

      UniProtKB/TrEMBL
      F8W9X7
      Conserved Domains (1) summary
      pfam09762
      Location:1110
      KOG2701; Coiled-coil domain-containing protein (DUF2037)
    3. XM_047444816.1XP_047300772.1  coiled-coil domain-containing protein 93 isoform X3

    4. XM_006712600.3XP_006712663.2  coiled-coil domain-containing protein 93 isoform X5

    5. XM_011511363.3XP_011509665.2  coiled-coil domain-containing protein 93 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      118348803..118447355 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342645.1XP_054198620.1  coiled-coil domain-containing protein 93 isoform X1

    2. XM_054342646.1XP_054198621.1  coiled-coil domain-containing protein 93 isoform X2

    3. XM_054342647.1XP_054198622.1  coiled-coil domain-containing protein 93 isoform X3

    4. XM_054342649.1XP_054198624.1  coiled-coil domain-containing protein 93 isoform X5

    5. XM_054342648.1XP_054198623.1  coiled-coil domain-containing protein 93 isoform X4