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    NHLRC3 NHL repeat containing 3 [ Homo sapiens (human) ]

    Gene ID: 387921, updated on 17-Jun-2019

    Summary

    Official Symbol
    NHLRC3provided by HGNC
    Official Full Name
    NHL repeat containing 3provided by HGNC
    Primary source
    HGNC:HGNC:33751
    See related
    Ensembl:ENSG00000188811
    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
    This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.4), fat (RPKM 10.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See NHLRC3 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (39038311..39050109)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39612448..39624246)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene stomatin like 3 Neighboring gene proline and serine rich 1 Neighboring gene uncharacterized LOC105370169 Neighboring gene nuclear transport factor 2 like export factor 1 pseudogene 1

    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

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp313M1221, DKFZp686E1140

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    NHL repeat-containing protein 3

    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_001012754.4NP_001012772.1  NHL repeat-containing protein 3 isoform a precursor

      See identical proteins and their annotated locations for NP_001012772.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL445590, BC140877, CR749318
      Consensus CDS
      CCDS31961.1
      UniProtKB/Swiss-Prot
      Q5JS37
      UniProtKB/TrEMBL
      Q68DP7
      Related
      ENSP00000368920.3, ENST00000379600.8
      Conserved Domains (2) summary
      cd05819
      Location:107153
      NHL; NHL repeat [structural motif]
      cl18310
      Location:66336
      NHL; NHL repeat unit of beta-propeller proteins
    2. NM_001017370.2NP_001017370.1  NHL repeat-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001017370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AL445590, BC140877, BX647872, CR749318, DA772703
      Consensus CDS
      CCDS31962.1
      UniProtKB/Swiss-Prot
      Q5JS37
      UniProtKB/TrEMBL
      Q68DP7
      Related
      ENSP00000368919.2, ENST00000379599.6
      Conserved Domains (2) summary
      cd05819
      Location:66138
      NHL; NHL repeat [structural motif]
      cl18310
      Location:61269
      NHL; NHL repeat unit of beta-propeller proteins

    RNA

    1. NR_073109.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at the 5' end, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL445590, BC052492, BC140877, CR749318, DA772703
      Related
      ENST00000470258.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      39038311..39050109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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