Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23094
Gene name Gene Name - the full gene name approved by the HGNC.
Signal induced proliferation associated 1 like 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIPA1L3
Synonyms (NCBI Gene) Gene synonyms aliases
CTRCT45, SPAL3, SPAR3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTRCT45
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.13-q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs756898971 C>T Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019987 hsa-miR-375 Microarray 20215506
MIRT050905 hsa-miR-17-5p CLASH 23622248
MIRT048328 hsa-miR-106a-5p CLASH 23622248
MIRT045593 hsa-miR-149-5p CLASH 23622248
MIRT039665 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development ISS
GO:0001725 Component Stress fiber IDA 26231217
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0003382 Process Epithelial cell morphogenesis IBA 21873635
GO:0003382 Process Epithelial cell morphogenesis IDA 26231217
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616655 23801 ENSG00000105738
Protein
UniProt ID O60292
Protein name Signal-induced proliferation-associated 1-like protein 3 (SIPA1-like protein 3) (SPA-1-like protein 3)
Protein function Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02145 Rap_GAP 640 822 Rap/ran-GAP Family
PF11881 SPAR_C 1477 1726 C-terminal domain of SPAR protein Family
Sequence
MTTYRAIPSDGVDLAASCGARVGDVLPGPHTGDYAPLGFWAQNGSMSQPLGESPATATAT
ATATTRPSPTTPAMPKMGVRARVADWPPKREALREHSNPSPSQDTDGTKATKMAHSMRSI
QNGQPPTSTPASSGSKAFHRLSRRRSKDVEFQDGWPRSPGRAFLPLRHRSSSEITLSECD
AEDAGEPRGARHTGALPLFREYGSTSSIDVQGMPEQSFFDILNEFRSEQPDARGCQALTE
LLRADPGPHLMGGGGGAKGDSHNGQPAKDSLLPLQPTKEKEKARKKPARGLGGGDTVDSS
IFRKLRSSKPEGEAGRSPGEADEGRSPPEASRPWVCQKSFAHFDVQSMLFDLNEAAANRV
SVSQRRNTTTGASAASAASAMASLTASRAHSLGGLDPAFTSTEDLNCKENLEQDLGDDNS
NDLLLSCPHFRNEIGGECERNVSFSRASVGSPSSGEGHLAEPALSAYRTNASISVLEVPK
EQQRTQSRPRQYSIEHVDLGARYYQDYFVGKEHANYFGVDEKLGPVAVSIKREKLEDHKE
HGPQYQYRIIFRTRELITLRGSILEDATPTATKHGTGRGLPLKDALEYVIPELNIHCLRL
ALNTPKVTEQLLKLDEQGLCRKHKVGILYCKAGQSSEEEMYNNEEAGPAFEEFLSLIGEK
VCLKGFTKYAAQLDVKTDSTGTHSLYTMYQDYEIMFHVSTLLPYTPNNRQQLLRKRHIGN
DIVTIIFQEPGALPFTPKNIRSHFQHVFIIVRVHNPCTDNVCYSMAVTRSKDAPPFGPPI
PSGTTFRKSDVFRDFLLAKVINAENAAHKSDKFHTMATRTRQ
EYLKDLAENCVSNTPIDS
TGKFNLISLTSKKKEKTKARAGAEQHSAGAIAWRVVAQDYAQGVEIDCILGISNEFVVLL
DLRTKEVVFNCYCGDVIGWTPDSSTLKIFYGRGDHIFLQATEGSVEDIREIVQRLKVMTS
GWETVDMTLRRNGLGQLGFHVKYDGTVAEVEDYGFAWQAGLRQGSRLVEICKVAVVTLTH
DQMIDLLRTSVTVKVVIIPPFEDGTPRRGWPETYDMNTSEPKTEQESITPGGRPPYRSNA
PWQWSGPASHNSLPASKWATPTTPGHAQSLSRPLKQTPIVPFRESQPLHSKRPVSFPETP
YTVSPAGADRVPPYRQPSGSFSTPGSATYVRYKPSPERYTAAPHPLLSLDPHFSHDGTSS
GDSSSGGLTSQESTMERQKPEPLWHVPAQARLSAIAGSSGNKHPSRQDAAGKDSPNRHSK
GEPQYSSHSSSNTLSSNASSSHSDDRWFDPLDPLEPEQDPLSKGGSSDSGIDTTLYTSSP
SCMSLAKAPRPAKPHKPPGSMGLCGGGREAAGRSHHADRRREVSPAPAVAGQSKGYRPKL
YSSGSSTPTGLAGGSRDPPRQPSDMGSRVGYPAQVYKTASAETPRPSQLAQPSPFQLSAS
VPKSFFSKQPVRNKHPTGWKRTEEPPPRPLPFSDPKKQVDTNTKNVFGQPRLRASLRDLR
SPRKNYKSTIEDDLKKLIIMDNLGPEQERDTGQSPQKGLQRTLSDESLCSGRREPSFASP
AGLEPGLPSDVLFTSTCAFPSSTLPARRQHQHPHPPVGPGATPAAGSGFPEKKSTISASE
LSLADGRDRPLRRLDPGLMPLPDTAAGLEWSSLVNAAKAYEVQRAVSLFSLNDPALSPDI
PPAHSPVHSHLSLERGPPTPRTTPTMSEEPPLDLTGKVYQLEVMLK
QLHTDLQKEKQDKV
VLQSEVASLRQNNQRLQEESQAASEQLRKFAEIFCREKKEL
Sequence length 1781
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Rap1 signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract CATARACT 45, Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Kidney Disease Kidney Disease GWAS
Hyperuricemia Hyperuricemia GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30924596
Angiomyolipoma Associate 31077186
Cataract Associate 25804400
Colorectal Neoplasms Associate 31554631
Papillomavirus Infections Associate 32164487
Renal Insufficiency Chronic Associate 40770708