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

Gene ID: 378884, updated on 2-Nov-2024

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; AllianceGenome:HGNC:21576
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; MELF2; 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
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Genomic context

See NHLRC1 in Genome Data Viewer
Location:
6p22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18120440..18122677, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (17992610..17994847, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18120671..18122908, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 13A Neighboring gene uncharacterized LOC105374953 Neighboring gene Sharpr-MPRA regulatory region 4275 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:17934402-17934586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:17940169-17940668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:17976631-17977191 Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24116 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:18022491-18023444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:18089369-18090086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:18146951-18148150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24117 Neighboring gene MPRA-validated peak5710 silencer Neighboring gene thiopurine S-methyltransferase Neighboring gene lysine demethylase 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24119

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

Clone Names

  • MGC119262, MGC119264, MGC119265

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables translation repressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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.

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
    Q3SYB1, Q5VUK7, Q6IMH1, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    17992610..17994847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)