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

    Gene ID: 25901, updated on 17-Sep-2024

    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; AllianceGenome:HGNC:21098
    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
    NEW
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    Genomic context

    See CCDC28A in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138773769..138793319)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139962307..139981863)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139094906..139114456)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NHS like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17598 Neighboring gene collagen alpha-1(III) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17600 Neighboring gene NHSL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139043918-139044568 Neighboring gene CCDC28A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139093957-139094631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139094632-139095305 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90660 Neighboring gene epithelial cell transforming 2 like Neighboring gene ACKR4 pseudogene 1 Neighboring gene MPRA-validated peak6155 silencer Neighboring gene U6 spliceosomal RNA

    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 28A
    Names
    chemokine C-C motif receptor-like 1 adjacent

    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_001379071.1NP_001366000.1  coiled-coil domain-containing protein 28A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL121834
      Conserved Domains (1) summary
      pfam13270
      Location:83108
      DUF4061; Domain of unknown function (DUF4061)
    2. NM_015439.3NP_056254.2  coiled-coil domain-containing protein 28A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL121834, AY167571
      Consensus CDS
      CCDS5192.2
      UniProtKB/TrEMBL
      B4DUJ5, Q7Z6N9
      Related
      ENSP00000482946.1, ENST00000617445.5
      Conserved Domains (1) summary
      pfam13270
      Location:83168
      DUF4061; Domain of unknown function (DUF4061)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      138773769..138793319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      139962307..139981863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)