ASNSD1 (asparagine synthetase domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54529
Gene name Asparagine synthetase domain containing 1
Gene symbol ASNSD1
Synonyms (NCBI Gene)
NBLA00058NS3TP1
Chromosome 2
Chromosome location 2q32.2
miRNA miRNA information provided by mirtarbase database.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT051320 hsa-miR-15a-5p CLASH 23622248
MIRT649864 hsa-miR-34b-3p HITS-CLIP 23824327
MIRT649863 hsa-miR-5187-5p HITS-CLIP 23824327
MIRT649862 hsa-miR-576-5p HITS-CLIP 23824327
MIRT649864 hsa-miR-34b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0004066 Function Asparagine synthase (glutamine-hydrolyzing) activity IEA
GO:0005575 Component Cellular_component ND
GO:0006529 Process Asparagine biosynthetic process IEA
GO:0007517 Process Muscle organ development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619739 24910 ENSG00000138381
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWL6
Protein name Asparagine synthetase domain-containing protein 1 (HCV NS3-transactivated protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00733 Asn_synthase 508 → 628 Asparagine synthase Domain
Sequence 
MCGICCSVNFSAEHFSQDLKEDLLYNLKQRGPNSSKQLLKSDVNYQCLFSAHVLHLRGVL
TTQPVEDERGNVFLWNGEIFSGIKVEAEENDTQILFNYLSSCKNESEILSLFSEVQGPWS
FIYYQASSHYLWFGRDFFGRRSLLWHFSNLGKSFCLSSVGTQTSGLANQWQEVPASGLFR
IDLKSTVISGCIILQLYPWKYISRENIIEENVNSLSQISADLPAFVSVVANEAKLYLEKP
VVPLNMMLPQAALETHCSNISNVPPTREILQVFLTDVHMKEVIQQFIDVLSVAVKKRVLC
LPRDENLTANEVLKTCDRKANVAILFSGGIDSMVIATLADRHIPLDEPIDLLNVAFIAEE
KTMPTTFNREGNKQKNKCEIPSEEFSKDVAAAAADSPNKHVSVPDRITGRAGLKELQAVS
PSRIWNFVEINVSMEELQKLRRTRICHLIRPLDTVLDDSIGCAVWFASRGIGWLVAQEGV
KSYQSNAKVVLTGIGADEQLAGYSRHRVRFQSHGLEGLNKEIMMELGRISSRNLGRDDRV
IGDHGKEARFPFLDENVVSFLNSLPIWEKANLTLPRGIGEKLLLRLAAVELGLTASALLP
KRAMQFGSRIAKMEKINEKASDKCGRLQIMSLENLSIEKETKL
Sequence length 643
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
RESTLESS LEGS SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations