Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9649
Gene name Gene Name - the full gene name approved by the HGNC.
Ral GEF with PH domain and SH3 binding motif 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RALGPS1
Synonyms (NCBI Gene) Gene synonyms aliases
RALGEF2, RALGPS1A
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT540767 hsa-miR-8485 HITS-CLIP 23824327
MIRT540766 hsa-miR-3120-3p HITS-CLIP 23824327
MIRT540765 hsa-miR-342-3p HITS-CLIP 23824327
MIRT540764 hsa-miR-377-3p HITS-CLIP 23824327
MIRT540767 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10747847
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity NAS 10747847
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614444 16851 ENSG00000136828
Protein
UniProt ID Q5JS13
Protein name Ras-specific guanine nucleotide-releasing factor RalGPS1 (Ral GEF with PH domain and SH3-binding motif 1) (Ral guanine nucleotide exchange factor 2) (RalGEF 2) (RalA exchange factor RalGPS1)
Protein function Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for.
PDB 3QXL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00617 RasGEF 53 227 RasGEF domain Family
PF00169 PH 432 543 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lowe
Sequence
MYKRNGLMASVLVTSATPQGSSSSDSLEGQSCDYASKSYDAVVFDVLKVTPEEFASQITL
MDIPVFKAIQPEELASCGWSKKEKHSLAPNVVAFTRRFNQVSFWVVREILTAQTLKIRAE
ILSHFVKIAKKLLELNNLHSLMSVVSALQSAPIFRLTKTWALLNRKDKTTFEKLDYLMSK
EDNYKRTREYIRSLKMVPSIPYLGIYLLDLIYIDSAYPASGSIMENE
QRSNQMNNILRII
ADLQVSCSYDHLTTLPHVQKYLKSVRYIEELQKFVEDDNYKLSLRIEPGSSSPRLVSSKE
DLAGPSAGSGSARFSRRPTCPDTSVAGSLPTPPVPRHRKSHSLGNNMMCQLSVVESKSAT
FPSEKARHLLDDSVLESRSPRRGLALTSSSAVTNGLSLGSSESSEFSEEMSSGLESPTGP
CICSLGNSAAVPTMEGPLRRKTLLKEGRKPALSSWTRYWVILSGSTLLYYGAKSLRGTDR
KHYKSTPGKKVSIVGWMVQLPDDPEHPDIFQLNNPDKGNVYKFQTGSRFHAILWHKHLDD
ACK
SNRPQVPANLMSFE
Sequence length 557
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinosarcoma Associate 34745385
Melanoma Cutaneous Malignant Associate 32199022