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

    Gene ID: 378884, updated on 27-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
    NEW
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    Try the new Transcript table

    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 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)

    NEW Try the new Transcript table

    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)