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NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

Gene ID: 378884, updated on 20-Dec-2019

Summary

Official Symbol
NHLRC1provided by HGNC
Official Full Name
NHL repeat containing E3 ubiquitin protein ligase 1provided by HGNC
Primary source
HGNC:HGNC:21576
See related
Ensembl:ENSG00000187566 MIM:608072
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
EPM2A; EPM2B; MALIN; bA204B7.2
Summary
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
Orthologs

Genomic context

See NHLRC1 in Genome Data Viewer
Location:
6p22.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (18120440..18122677, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18120718..18122851, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 13A Neighboring gene uncharacterized LOC105374953 Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene thiopurine S-methyltransferase Neighboring gene lysine demethylase 1B

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119262, MGC119264, MGC119265

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase NHLRC1
Names
NHL repeat containing 1
NHL repeat-containing protein 1
RING-type E3 ubiquitin transferase NHLRC1
NP_940988.2

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_016750.1 RefSeqGene

    Range
    4944..7181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198586.3NP_940988.2  E3 ubiquitin-protein ligase NHLRC1

    See identical proteins and their annotated locations for NP_940988.2

    Status: REVIEWED

    Source sequence(s)
    AL589723, BK001510
    Consensus CDS
    CCDS4542.1
    UniProtKB/Swiss-Prot
    Q6VVB1
    Related
    ENSP00000345464.3, ENST00000340650.6
    Conserved Domains (3) summary
    cd14961
    Location:118391
    NHL_TRIM32_like; NHL repeat domain of the tripartite motif-containing protein 32 (TRIM32) and related proteins
    cd16516
    Location:2572
    RING-HC_malin; RING finger, HC subclass, found in malin and similar proteins
    cl28192
    Location:53133
    HemN; Coproporphyrinogen III oxidase or related Fe-S oxidoreductase [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    18120440..18122677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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