Format

Send to:

Choose Destination
    • Showing Current items.

    CCDC28A coiled-coil domain containing 28A [ Homo sapiens (human) ]

    Gene ID: 25901, updated on 5-Aug-2018

    Summary

    Official Symbol
    CCDC28Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 28Aprovided by HGNC
    Primary source
    HGNC:HGNC:21098
    See related
    Ensembl:ENSG00000024862 MIM:615353; Vega:OTTHUMG00000015683
    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
    C6orf80; CCRL1AP
    Summary
    This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.4), adrenal (RPKM 9.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See CCDC28A in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (138773517..138793319)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139094657..139114456)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NHS like 1 Neighboring gene mitochondrial carrier 1 pseudogene Neighboring gene uncharacterized LOC441172 Neighboring gene GVQW motif containing 2 Neighboring gene epithelial cell transforming 2 like Neighboring gene C-C motif chemokine receptor like 1 pseudogene 1 Neighboring gene uncharacterized LOC107986650

    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 Jun 15 11:32:44 2016

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC131913, DKFZp586D0623

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 28A
    Names
    chemokine C-C motif receptor-like 1 adjacent

    NCBI Reference Sequences (RefSeq)

    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_015439.2NP_056254.1  coiled-coil domain-containing protein 28A

      See identical proteins and their annotated locations for NP_056254.1

      Status: VALIDATED

      Source sequence(s)
      AY167571
      Consensus CDS
      CCDS5192.1
      UniProtKB/Swiss-Prot
      Q8IWP9
      Related
      ENSP00000332716.6, OTTHUMP00000017302, ENST00000332797.10, OTTHUMT00000042444
      Conserved Domains (1) summary
      pfam13270
      Location:173257
      DUF4061; Domain of unknown function (DUF4061)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      138773517..138793319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535728.3XP_011534030.1  coiled-coil domain-containing protein 28A isoform X1

      Conserved Domains (1) summary
      pfam13270
      Location:173198
      DUF4061; Domain of unknown function (DUF4061)
    Support Center