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    KLHDC8B kelch domain containing 8B [ Homo sapiens (human) ]

    Gene ID: 200942, updated on 22-Apr-2017
    Official Symbol
    KLHDC8Bprovided by HGNC
    Official Full Name
    kelch domain containing 8Bprovided by HGNC
    Primary source
    HGNC:HGNC:28557
    See related
    Ensembl:ENSG00000185909 MIM:613169; Vega:OTTHUMG00000156814
    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
    Also known as
    CHL
    Summary
    This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (49171120..49176487)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49208987..49213919)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene laminin subunit beta 2 pseudogene 1 Neighboring gene coiled-coil domain containing 71 Neighboring gene chromosome 3 open reading frame 84 Neighboring gene coiled-coil domain containing 36

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Leg, absence deformity of, with congenital cataract
    MedGen: C1855523 OMIM: 246000 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • FLJ11302, MGC35097

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    kelch domain-containing protein 8B

    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_027702.1 RefSeqGene

      Range
      5001..9902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173546.2NP_775817.1  kelch domain-containing protein 8B

      See identical proteins and their annotated locations for NP_775817.1

      Status: REVIEWED

      Source sequence(s)
      BC013110, BC039083, T08504
      Consensus CDS
      CCDS2791.1
      UniProtKB/Swiss-Prot
      Q8IXV7
      UniProtKB/TrEMBL
      A0A024R2X4, Q96DZ8
      Related
      ENSP00000327468.2, OTTHUMP00000210678, ENST00000332780.3, OTTHUMT00000345974
      Conserved Domains (5) summary
      smart00612
      Location:176222
      Kelch; Kelch domain
      PRK14131
      Location:1304
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:271319
      Kelch_6; Kelch motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      49171120..49176487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713015.2XP_006713078.1  kelch domain-containing protein 8B isoform X1

      Conserved Domains (5) summary
      smart00612
      Location:139184
      Kelch; Kelch domain
      PRK14131
      Location:1321
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:2165
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:288336
      Kelch_6; Kelch motif
    2. XM_006713016.2XP_006713079.1  kelch domain-containing protein 8B isoform X2

      Conserved Domains (5) summary
      smart00612
      Location:186232
      Kelch; Kelch domain
      PRK14131
      Location:1314
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:281329
      Kelch_6; Kelch motif
    3. XM_005264938.2XP_005264995.1  kelch domain-containing protein 8B isoform X3

      Conserved Domains (5) summary
      smart00612
      Location:129174
      Kelch; Kelch domain
      PRK14131
      Location:1311
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:2165
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:278326
      Kelch_6; Kelch motif
    4. XM_005264940.4XP_005264997.1  kelch domain-containing protein 8B isoform X4

      Conserved Domains (4) summary
      smart00612
      Location:4995
      Kelch; Kelch domain
      sd00038
      Location:3981
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:84135
      Kelch_1; Kelch motif
      pfam13964
      Location:144192
      Kelch_6; Kelch motif

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      49161789..49166690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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