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    CCDC83 coiled-coil domain containing 83 [ Homo sapiens (human) ]

    Gene ID: 220047, updated on 10-Oct-2024

    Summary

    Official Symbol
    CCDC83provided by HGNC
    Official Full Name
    coiled-coil domain containing 83provided by HGNC
    Primary source
    HGNC:HGNC:28535
    See related
    Ensembl:ENSG00000150676 AllianceGenome:HGNC:28535
    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
    Also known as
    HSD9; CT148; KP-CoT-23
    Expression
    Restricted expression toward testis (RPKM 12.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC83 in Genome Data Viewer
    Location:
    11q14.1-q14.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85855066..85920013)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85791751..85856708)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85566426..85631056)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396033-85396534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396535-85397034 Neighboring gene coiled-coil domain containing 89 Neighboring gene synaptotagmin like 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:85472379-85473578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3822 Neighboring gene adenosylhomocysteinase pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85646587-85647178 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:85647179-85647769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5371 Neighboring gene solute carrier family 25 member 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85665736-85666236 Neighboring gene phosphatidylinositol binding clathrin assembly protein Neighboring gene uncharacterized LOC124902730

    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
    coiled-coil domain-containing protein 83

    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_001286159.2NP_001273088.1  coiled-coil domain-containing protein 83 isoform 2

      See identical proteins and their annotated locations for NP_001273088.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AP000974, AP003128
      Consensus CDS
      CCDS66196.1
      UniProtKB/Swiss-Prot
      B2RA49, Q6X7T2, Q6ZVT5, Q8IWF9, Q8N9Y1
      Related
      ENSP00000344512.3, ENST00000342404.8
      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    2. NM_173556.5NP_775827.2  coiled-coil domain-containing protein 83 isoform 1

      See identical proteins and their annotated locations for NP_775827.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000974, AP003128
      Consensus CDS
      CCDS8271.1
      UniProtKB/Swiss-Prot
      Q8IWF9
      Related
      ENSP00000280245.4, ENST00000280245.8
      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

    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
      85855066..85920013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544839.3XP_011543141.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543141.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    2. XM_011544842.2XP_011543144.1  coiled-coil domain-containing protein 83 isoform X2

      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    3. XM_017017354.2XP_016872843.1  coiled-coil domain-containing protein 83 isoform X3

    4. XM_011544843.2XP_011543145.1  coiled-coil domain-containing protein 83 isoform X4

      UniProtKB/TrEMBL
      H0YDV3
    5. XM_047426560.1XP_047282516.1  coiled-coil domain-containing protein 83 isoform X5

    6. XM_017017355.2XP_016872844.1  coiled-coil domain-containing protein 83 isoform X6

      UniProtKB/TrEMBL
      H0YDV3
      Related
      ENSP00000434373.1, ENST00000526729.1
    7. XM_011544840.3XP_011543142.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543142.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    8. XM_011544841.2XP_011543143.1  coiled-coil domain-containing protein 83 isoform X1

      See identical proteins and their annotated locations for XP_011543143.1

      UniProtKB/Swiss-Prot
      Q8IWF9
      Conserved Domains (1) summary
      cl21456
      Location:80140
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    9. XM_011544844.3XP_011543146.1  coiled-coil domain-containing protein 83 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      85791751..85856708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368025.1XP_054224000.1  coiled-coil domain-containing protein 83 isoform X1

    2. XM_054368028.1XP_054224003.1  coiled-coil domain-containing protein 83 isoform X2

    3. XM_054368029.1XP_054224004.1  coiled-coil domain-containing protein 83 isoform X3

    4. XM_054368030.1XP_054224005.1  coiled-coil domain-containing protein 83 isoform X4

    5. XM_054368031.1XP_054224006.1  coiled-coil domain-containing protein 83 isoform X5

    6. XM_054368032.1XP_054224007.1  coiled-coil domain-containing protein 83 isoform X6

    7. XM_054368026.1XP_054224001.1  coiled-coil domain-containing protein 83 isoform X1

    8. XM_054368027.1XP_054224002.1  coiled-coil domain-containing protein 83 isoform X1

    9. XM_054368033.1XP_054224008.1  coiled-coil domain-containing protein 83 isoform X7