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    KLHL38 kelch like family member 38 [ Homo sapiens (human) ]

    Gene ID: 340359, updated on 11-Jun-2021

    Summary

    Official Symbol
    KLHL38provided by HGNC
    Official Full Name
    kelch like family member 38provided by HGNC
    Primary source
    HGNC:HGNC:34435
    See related
    Ensembl:ENSG00000175946
    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
    C8ORFK36
    Expression
    Biased expression in heart (RPKM 17.1) and esophagus (RPKM 1.0) See more
    Orthologs
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    Genomic context

    See KLHL38 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (123644442..123653801, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124656682..124666041, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene F-box protein 32 Neighboring gene RN7SK pseudogene 155 Neighboring gene uncharacterized LOC105375738 Neighboring gene annexin A13 Neighboring gene uncharacterized LOC105375739

    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 Apr 4 07:08:55 2018

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    kelch-like protein 38
    Names
    kelch-like 38

    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_001081675.3NP_001075144.2  kelch-like protein 38

      See identical proteins and their annotated locations for NP_001075144.2

      Status: VALIDATED

      Source sequence(s)
      AC135166
      Consensus CDS
      CCDS43766.1
      UniProtKB/Swiss-Prot
      Q2WGJ6
      Related
      ENSP00000508228.1, ENST00000684634.1
      Conserved Domains (7) summary
      smart00612
      Location:480521
      Kelch; Kelch domain
      PHA03098
      Location:30560
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373417
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:24128
      BTB; BTB/POZ domain
      pfam01344
      Location:510560
      Kelch_1; Kelch motif
      pfam07707
      Location:136237
      BACK; BTB And C-terminal Kelch
      pfam13964
      Location:281321
      Kelch_6; Kelch motif

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      123644442..123653801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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