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    CCDC28B coiled-coil domain containing 28B [ Homo sapiens (human) ]

    Gene ID: 79140, updated on 3-Nov-2018

    Summary

    Official Symbol
    CCDC28Bprovided by HGNC
    Official Full Name
    coiled-coil domain containing 28Bprovided by HGNC
    Primary source
    HGNC:HGNC:28163
    See related
    Ensembl:ENSG00000160050 MIM:610162; Vega:OTTHUMG00000005738
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Broad expression in testis (RPKM 4.7), lymph node (RPKM 2.1) and 23 other tissues See more
    Orthologs

    Genomic context

    See CCDC28B in Genome Data Viewer
    Location:
    1p35.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (32200386..32205390)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (32666202..32670991)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene karyopherin subunit alpha 6 Neighboring gene taxilin alpha Neighboring gene transmembrane protein 234 Neighboring gene IQ motif containing C Neighboring gene doublecortin domain containing 2B

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC1203, MGC16441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 28B

    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.

    Genomic

    1. NG_012178.1 RefSeqGene

      Range
      4786..9790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301011.1NP_001287940.1  coiled-coil domain-containing protein 28B isoform 1

      See identical proteins and their annotated locations for NP_001287940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK291904, BC002462, BM981930
      Consensus CDS
      CCDS72749.1
      UniProtKB/Swiss-Prot
      Q9BUN5
      Related
      ENSP00000413017.2, OTTHUMP00000006371, ENST00000421922.6, OTTHUMT00000015722
      Conserved Domains (1) summary
      pfam13270
      Location:86183
      DUF4061; Domain of unknown function (DUF4061)
    2. NM_024296.4NP_077272.2  coiled-coil domain-containing protein 28B isoform 2

      See identical proteins and their annotated locations for NP_077272.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK291904, BC022848, BM981930
      Consensus CDS
      CCDS354.2
      UniProtKB/Swiss-Prot
      Q9BUN5
      Related
      ENSP00000362704.5, OTTHUMP00000006372, ENST00000373602.9, OTTHUMT00000015723
      Conserved Domains (1) summary
      pfam13270
      Location:86184
      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_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      32200386..32205390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002308.2XP_016857797.1  coiled-coil domain-containing protein 28B isoform X4

    2. XM_017002306.2XP_016857795.1  coiled-coil domain-containing protein 28B isoform X2

    3. XM_011542113.3XP_011540415.1  coiled-coil domain-containing protein 28B isoform X1

      See identical proteins and their annotated locations for XP_011540415.1

      UniProtKB/Swiss-Prot
      Q9BUN5
      Conserved Domains (1) summary
      pfam13270
      Location:86183
      DUF4061; Domain of unknown function (DUF4061)
    4. XM_017002309.2XP_016857798.1  coiled-coil domain-containing protein 28B isoform X4

    5. XM_017002307.1XP_016857796.1  coiled-coil domain-containing protein 28B isoform X3

      UniProtKB/Swiss-Prot
      Q9BUN5
      Conserved Domains (1) summary
      pfam13270
      Location:86184
      DUF4061; Domain of unknown function (DUF4061)
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