Gene Gene information from NCBI Gene database.
Entrez ID 23094
Gene name Signal induced proliferation associated 1 like 3
Gene symbol SIPA1L3
Synonyms (NCBI Gene)
CTRCT45SPAL3SPAR3
Chromosome 19
Chromosome location 19q13.13-q13.2
Summary 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.
1
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.
306
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IEA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616655 23801 ENSG00000105738
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
Cataract 45 Pathogenic rs1568573490, rs756898971 RCV002251032
RCV000208874
★★★★☆
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
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance; Benign; 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
Acute monocytic leukemia Monocytic Leukemia BEFREE 31077186
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30924596
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 25804400, 26231217, 30046524
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 25804400 Associate
★☆☆☆☆
Found in Text Mining only
CATARACT 45 Cataract CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT 45 Cataract CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Neoplasms Colorectal neoplasm Pubtator 31554631 Associate
★☆☆☆☆
Found in Text Mining only
Congenital cataract Congenital Cataract BEFREE 25804400, 27993984
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital total cataract Congenital Cataract ORPHANET_DG 25804400
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hyperuricemia Hyperuricemia GWASCAT_DG 29124443
★★☆☆☆
Found in Text Mining + Unknown/Other Associations