Gene Gene information from NCBI Gene database.
Entrez ID 9649
Gene name Ral GEF with PH domain and SH3 binding motif 1
Gene symbol RALGPS1
Synonyms (NCBI Gene)
RALGEF2RALGPS1A
Chromosome 9
Chromosome location 9q33.3
miRNA miRNA information provided by mirtarbase database.
449
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614444 16851 ENSG00000136828
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★☆☆☆
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
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Carcinosarcoma Carcinoma Pubtator 34745385 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of urinary bladder Urinary bladder cancer CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Melanoma Pubtator 32199022 Associate
★☆☆☆☆
Found in Text Mining only
Parkinsonian Disorders Parkinson Disease BEFREE 29523295
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 28991256, 30285260
★★☆☆☆
Found in Text Mining + Unknown/Other Associations