Gene Gene information from NCBI Gene database.
Entrez ID 6494
Gene name Signal-induced proliferation-associated 1
Gene symbol SIPA1
Synonyms (NCBI Gene)
SPA1
Chromosome 11
Chromosome location 11q13.1
Summary The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell
miRNA miRNA information provided by mirtarbase database.
51
miRTarBase ID miRNA Experiments Reference
MIRT030296 hsa-miR-26b-5p Microarray 19088304
MIRT486321 hsa-miR-6777-5p PAR-CLIP 23592263
MIRT486322 hsa-miR-6889-5p PAR-CLIP 23592263
MIRT486320 hsa-miR-542-5p PAR-CLIP 23592263
MIRT486319 hsa-miR-3192-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response TAS
GO:0005096 Function GTPase activator activity EXP 16076873
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity NAS 9346962
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602180 10885 ENSG00000213445
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FS4
Protein name Signal-induced proliferation-associated protein 1 (Sipa-1) (GTPase-activating protein Spa-1) (p130 SPA-1)
Protein function GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state (PubMed:9346962). Affects cell cycle progression (By similarity). {ECO:0000250|UniProtKB:P46062,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02145 Rap_GAP 350 533 Rap/ran-GAP Family
PF00595 PDZ 687 759 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal as well as in adult tissues. Expressed abundantly in the lymphoid tissues such as thymus, spleen and peripheral blood lymphocytes and also shows a significant expression in the spinal cord.
Sequence
MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEA
RPPTPASPRARAHSHEEASRPAATSTRLFTDPLALLGLPAEEPEPAFPPVLEPRWFAHYD
VQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP
ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGP
VAVSLRREEKEGSGGGTLHSYRVIVRTTQLRTLRGTISEDALPPGPPRGLSPRKLLEHVA
PQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF
MQFLTLLGDVVRLKGFESYRAQLDTKTDSTGTHSLYTTYQDHEIMFHVSTMLPYTPNNQQ
QLLRKRHIGNDIVTIVFQEPGSKPFCPTTIRSHFQHVFLVVRAHTPCTPHTTYRVAVSRT
QDTPAFGPALPAGGGPFAANADFRAFLLAKALNGEQAAGHARQFHAMATRTRQ
QYLQDLA
TNEVTTTSLDSASRFGLPSLGGRRRAAPRGPGAELQAAGSLVWGVRAAPGARVAAGAQAS
GPEGIEVPCLLGISAEALVLVAPRDGRVVFNCACRDVLAWTFSEQQLDLYHGRGEAITLR
FDGSPGQAVGEVVARLQLVSRGCETRELALPRDGQGRLGFEVDAEGFVTHVERFTFAETA
GLRPGARLLRVCGQTLPSLRPEAAAQLLRSAPKVCVTVL
PPDESGRPRRSFSELYTLSLQ
EPSRRGAPDPVQDEVQGVTLLPTTKQLLHLCLQDGGSPPGPGDLAEERTEFLHSQNSLSP
RSSLSDEAPVLPNTTPDLLLATTAKPSVPSADSETPLTQDRPGSPSGSEDKGNPAPELRA
SFLPRTLSLRNSISRIMSEAGSGTLEDEWQAISEIASTCNTILESLSREGQPIPESGDPK
GTPKSDAEPEPGNLSEKVSHLESMLRKLQEDLQKEKADRAALEEEVRSLRHNNRRLQAES
ESAATRLLLASKQLGSPTADLA
Sequence length 1042
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Rap1 signaling pathway
Leukocyte transendothelial migration
  Rap1 signalling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE-3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 16563182, 19089925, 19765277, 19825179, 23771732, 32193333, 33296812, 33753200
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 25352027
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Associate 30146127
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Disease Associate 19906411
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 19765277
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 34894858
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Associate 19765277, 19906411, 23771732
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Animal Associate 19765277
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 16563182, 19089925, 19765277, 19825179, 19906411, 23771732, 25277657, 25352027, 28362978, 33296812, 37500797
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 16563182, 23771732, 25352027, 32193333, 33753200
★☆☆☆☆
Found in Text Mining only