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

Gene ID: 378884, updated on 19-Jul-2014
Official Symbol
NHLRC1provided by HGNC
Official Full Name
NHL repeat containing E3 ubiquitin protein ligase 1provided by HGNC
Primary source
HGNC:21576
See related
Ensembl:ENSG00000187566; HPRD:06995; MIM:608072; Vega:OTTHUMG00000014315
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]
See NHLRC1 in Epigenomics, MapViewer
Location:
6p22.3
Exon count:
1
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (18120487..18122620, 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 RNA, 5S ribosomal pseudogene 204 Neighboring gene kinesin family member 13A Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene thiopurine S-methyltransferase Neighboring gene lysine (K)-specific demethylase 1B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC119262, MGC119264, MGC119265

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
E3 ubiquitin-protein ligase NHLRC1
Names
E3 ubiquitin-protein ligase NHLRC1
NHL repeat containing 1
NHL repeat-containing protein 1

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 

    Range
    5001..7134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_940988.2

    Status: REVIEWED

    Source sequence(s)
    BK001510
    Consensus CDS
    CCDS4542.1
    UniProtKB/Swiss-Prot
    Q6VVB1
    Related
    ENSP00000345464, OTTHUMP00000016074, ENST00000340650, OTTHUMT00000039958
    Conserved Domains (1) summary
    cd00162
    Location:2575
    Blast Score: 85
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    18120487..18122620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    18065097..18067230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    18123324..18125457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)