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Gene Gene information from NCBI Gene database.
Entrez ID 5910
Gene name Rap1 GTPase-GDP dissociation stimulator 1
Gene symbol RAP1GDS1
Synonyms (NCBI Gene)
GDS1SmgGDS
Chromosome 4
Chromosome location 4q23
Summary The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
miRNA miRNA information provided by mirtarbase database.
194 Show/Hide all (194)
miRTarBase ID miRNA Experiments Reference
MIRT662162 hsa-miR-676-5p HITS-CLIP 23824327
MIRT453732 hsa-miR-4796-3p PAR-CLIP 23592263
MIRT453731 hsa-miR-6815-5p PAR-CLIP 23592263
MIRT453730 hsa-miR-6865-5p PAR-CLIP 23592263
MIRT453729 hsa-miR-5693 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27 Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0003300 Process Cardiac muscle hypertrophy IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 21242305, 28630045, 30190425
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 20936779, 24415755, 25416956, 27716788, 28630045, 30190425, 31406347, 31980649, 32296183, 32353859, 32814053, 32838362, 33060197, 33961781, 34159380, 35271311, 36217030
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179502 9859 ENSG00000138698
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52306
Protein name Rap1 GTPase-GDP dissociation stimulator 1 (Exchange factor smgGDS) (SMG GDS protein) (SMG P21 stimulatory GDP/GTP exchange protein)
Protein function Acts as a GEF (guanine nucleotide exchange factor) for the Rho family of small GTP-binding proteins (G proteins) that stimulates the dissociation of GDP to enable subsequent binding of GTP (PubMed:11948427, PubMed:1549351, PubMed:20709748, PubMe
PDB 5XGC , 5ZHX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 346 → 390 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 78 → 118 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 169 → 211 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 479 → 519 Armadillo/beta-catenin-like repeat Repeat
Sequence
MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTP
QSSCKAKVANIIAEVAKNEFMRIPCVDAGLISPLVQLLNSKDQEVLLQTGRALGNICYDS
HEGRSAVDQAGGAQIVIDHLRSLCSITDPANEKLLTVFCGMLMNYSNENDSLQAQLINMG
VIPTLVKLLGIHCQNAALTEMCLVAFGNLAE
LESSKEQFASTNIAEELVKLFKKQIEHDK
REMIFEVLAPLAENDAIKLQLVEAGLVECLLEIVQQKVDSDKEDDITELKTGSDLMVLLL
LGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVE
KLMDLLDRHVEDGNVTVQHAALSALRNLAI
PVINKAKMLSAGVTEAVLKFLKSEMPPVQF
KLLGTLRMLIDAQAEAAEQLGKNVKLVERLVEWCEAKDHAGVMGESNRLLSALIRHSKSK
DVIKTIVQSGGIKHLVTMATSEHVIMQNEALVALALIAA
LELGTAEKDLESAKLVQILHR
LLADERSAPEIKYNSMVLICALMGSECLHKEVQDLAFLDVVSKLRSHENKSVAQQASLTE
QRLTVES
Sequence length 607
Interactions View interactions
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alfadhel syndrome Pathogenic rs2110217457, rs2529805271 RCV003448987
RCV003449002
★★★★★
★★★★☆
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 Reference Evidence Score
RAP1GDS1-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (21)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10929031
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 32431071 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24197117, 24552806
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 32431071 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 28866990
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 32431071 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Language Development Disorders Language development disorders Pubtator 32431071 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 16419055, 26004809
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphoid leukemia Lymphoid leukemia BEFREE 10477737
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 24197117, 24552806
★★★★★
★☆☆☆☆
Found in Text Mining only