Gene Gene information from NCBI Gene database.
Entrez ID 387921
Gene name NHL repeat containing 3
Gene symbol NHLRC3
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q13.3
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
miRNA miRNA information provided by mirtarbase database.
658
miRTarBase ID miRNA Experiments Reference
MIRT018575 hsa-miR-335-5p Microarray 18185580
MIRT026034 hsa-miR-196a-5p Sequencing 20371350
MIRT026785 hsa-miR-192-5p Microarray 19074876
MIRT027923 hsa-miR-96-5p Sequencing 20371350
MIRT028124 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0035578 Component Azurophil granule lumen TAS
GO:0043161 Process Proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JS37
Protein name NHL repeat-containing protein 3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01436 NHL 213 240 NHL repeat Repeat
Sequence
MARFWVCVAGAGFFLAFLVLHSRFCGSPVLRNFTFAVSWRTEKILYRLDVGWPKHPEYFT
GTTFCVAVDSLNGLVYIGQRGDNIPKILVFTEDGYFLRAWNYTVDTPHGIFAASTLYEQS
VWITDVGSGFFGHTVKKYSSFGDLVQVLGTPGKKGTSLNPLQFDNPAELYVEDTGDIYIV
DGDGGLNNRLIKLSQDFMILWLHGENGTGPAKFNIPHSVTLDSAGRVWVADRGNKRIQVF
DKDTGEWLGAWNNCFTEEGPSSVRFTPDGKYLIVAQLNLSRLSVVAAPPVGSIGECSVIS
TIQLADQVLPHLLEVDRKTGAVYVAEIGAKQVQKYVPLNSYVPSFGS
Sequence length 347
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Glomerulonephritis IGA Iga nephropathy Pubtator 25957429 Associate
★☆☆☆☆
Found in Text Mining only