Gene Gene information from NCBI Gene database.
Entrez ID 284716
Gene name Ribosomal modification protein rimK like family member A
Gene symbol RIMKLA
Synonyms (NCBI Gene)
FAM80ANAAGSNAAGS-IINAAGS2
Chromosome 1
Chromosome location 1p34.2
miRNA miRNA information provided by mirtarbase database.
439
miRTarBase ID miRNA Experiments Reference
MIRT024902 hsa-miR-215-5p Microarray 19074876
MIRT026388 hsa-miR-192-5p Microarray 19074876
MIRT720134 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT720133 hsa-miR-4308 HITS-CLIP 19536157
MIRT720132 hsa-miR-4292 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618949 28725 ENSG00000177181
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXN7
Protein name N-acetylaspartylglutamate synthase A (NAAG synthetase A) (NAAGS) (EC 6.3.2.41) (N-acetylaspartylglutamylglutamate synthase A) (EC 6.3.2.42) (Ribosomal protein S6 modification-like protein A)
Protein function Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08443 RimK 108 299 RimK-like ATP-grasp domain Domain
Sequence
MCSQLWFLTDRRIREDYPQVQILRALRQRCSEQDVRFRAVLMDQIAVTIVGGHLGLQLNQ
KALTTFPDVVLVRVPTPSVQSDSDITVLRHLEKLGCRLVNRPQSILNCINKFWTFQELAG
HGVPMPDTFSYGGHEDFSKMIDEAEPLGYPVVVKSTRGHRGKAVFLARDKHHLSDICHLI
RHDVPYLFQKYVKESHGKDIRVVVVGGQVIGSMLRCSTDGRMQSNCSLGGVGVKCPLTEQ
GKQLAIQVSNILGMDFCGIDLLIMDDGSFVVCEANANVGFLAFDQACNLDVGGIIADYT
M
SLLPNRQTGKMAVLPGLSSPREKNEPDGCASAQGVAESVYTINSGSTSSESEPELGEIRD
SSASTMGAPPSMLPEPGYNINNRIASELKLK
Sequence length 391
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
VASCULAR DEMENTIA 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
Dementia Dementia Pubtator 28600779 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Foot Diabetic foot Pubtator 38287255 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 28600779 Associate
★☆☆☆☆
Found in Text Mining only