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

Gene ID: 387921, updated on 1-Aug-2020

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
109.20200522 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

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 109.20200522

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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