SIPA1L3
Signal-induced proliferation-associated 1-like protein 3
Also known as: KIAA0545, SI1L3_HUMAN, SPAR3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60292
- Gene
- SIPA1L3
- Ensembl
- ENSG00000105738
- Chromosome
- 19
- Canonical length
- 1781 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Golgi apparatus,Plasma membrane
OverviewNCBI 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 of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
Canonical amino-acid sequenceUniProt
1781 residues, UniProt reviewed canonical sequence.
>O60292|SIPA1L3
1 MTTYRAIPSD GVDLAASCGA RVGDVLPGPH TGDYAPLGFW AQNGSMSQPL GESPATATAT
61 ATATTRPSPT TPAMPKMGVR ARVADWPPKR EALREHSNPS PSQDTDGTKA TKMAHSMRSI
121 QNGQPPTSTP ASSGSKAFHR LSRRRSKDVE FQDGWPRSPG RAFLPLRHRS SSEITLSECD
181 AEDAGEPRGA RHTGALPLFR EYGSTSSIDV QGMPEQSFFD ILNEFRSEQP DARGCQALTE
241 LLRADPGPHL MGGGGGAKGD SHNGQPAKDS LLPLQPTKEK EKARKKPARG LGGGDTVDSS
301 IFRKLRSSKP EGEAGRSPGE ADEGRSPPEA SRPWVCQKSF AHFDVQSMLF DLNEAAANRV
361 SVSQRRNTTT GASAASAASA MASLTASRAH SLGGLDPAFT STEDLNCKEN LEQDLGDDNS
421 NDLLLSCPHF RNEIGGECER NVSFSRASVG SPSSGEGHLA EPALSAYRTN ASISVLEVPK
481 EQQRTQSRPR QYSIEHVDLG ARYYQDYFVG KEHANYFGVD EKLGPVAVSI KREKLEDHKE
541 HGPQYQYRII FRTRELITLR GSILEDATPT ATKHGTGRGL PLKDALEYVI PELNIHCLRL
601 ALNTPKVTEQ LLKLDEQGLC RKHKVGILYC KAGQSSEEEM YNNEEAGPAF EEFLSLIGEK
661 VCLKGFTKYA AQLDVKTDST GTHSLYTMYQ DYEIMFHVST LLPYTPNNRQ QLLRKRHIGN
721 DIVTIIFQEP GALPFTPKNI RSHFQHVFII VRVHNPCTDN VCYSMAVTRS KDAPPFGPPI
781 PSGTTFRKSD VFRDFLLAKV INAENAAHKS DKFHTMATRT RQEYLKDLAE NCVSNTPIDS
841 TGKFNLISLT SKKKEKTKAR AGAEQHSAGA IAWRVVAQDY AQGVEIDCIL GISNEFVVLL
901 DLRTKEVVFN CYCGDVIGWT PDSSTLKIFY GRGDHIFLQA TEGSVEDIRE IVQRLKVMTS
961 GWETVDMTLR RNGLGQLGFH VKYDGTVAEV EDYGFAWQAG LRQGSRLVEI CKVAVVTLTH
1021 DQMIDLLRTS VTVKVVIIPP FEDGTPRRGW PETYDMNTSE PKTEQESITP GGRPPYRSNA
1081 PWQWSGPASH NSLPASKWAT PTTPGHAQSL SRPLKQTPIV PFRESQPLHS KRPVSFPETP
1141 YTVSPAGADR VPPYRQPSGS FSTPGSATYV RYKPSPERYT AAPHPLLSLD PHFSHDGTSS
1201 GDSSSGGLTS QESTMERQKP EPLWHVPAQA RLSAIAGSSG NKHPSRQDAA GKDSPNRHSK
1261 GEPQYSSHSS SNTLSSNASS SHSDDRWFDP LDPLEPEQDP LSKGGSSDSG IDTTLYTSSP
1321 SCMSLAKAPR PAKPHKPPGS MGLCGGGREA AGRSHHADRR REVSPAPAVA GQSKGYRPKL
1381 YSSGSSTPTG LAGGSRDPPR QPSDMGSRVG YPAQVYKTAS AETPRPSQLA QPSPFQLSAS
1441 VPKSFFSKQP VRNKHPTGWK RTEEPPPRPL PFSDPKKQVD TNTKNVFGQP RLRASLRDLR
1501 SPRKNYKSTI EDDLKKLIIM DNLGPEQERD TGQSPQKGLQ RTLSDESLCS GRREPSFASP
1561 AGLEPGLPSD VLFTSTCAFP SSTLPARRQH QHPHPPVGPG ATPAAGSGFP EKKSTISASE
1621 LSLADGRDRP LRRLDPGLMP LPDTAAGLEW SSLVNAAKAY EVQRAVSLFS LNDPALSPDI
1681 PPAHSPVHSH LSLERGPPTP RTTPTMSEEP PLDLTGKVYQ LEVMLKQLHT DLQKEKQDKV
1741 VLQSEVASLR QNNQRLQEES QAASEQLRKF AEIFCREKKE LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SIPA1L3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 17 nTPM
- small intestine: 17 nTPM
- skin: 11 nTPM
- colon: 9.9 nTPM
- thyroid gland: 9.4 nTPM
- pancreas: 9.2 nTPM
Single-cell type
- retinal amacrine cells: 1,039 nCPM
- retinal horizontal cells: 527 nCPM
- pancreatic islet cells: 470 nCPM
- enterocytes: 468 nCPM
- proximal tubule cells: 463 nCPM
- b-cells: 442 nCPM
Immune cell
- naive B-cell: 1.5 nTPM
- non-classical monocyte: 1.5 nTPM
- memory B-cell: 1.1 nTPM
- eosinophil: 0.5 nTPM
- naive CD8 T-cell: 0.5 nTPM
- NK-cell: 0.3 nTPM
Brain region
- hippocampal formation: 77 nTPM
- cerebral cortex: 50 nTPM
- cerebellum: 39 nTPM
- amygdala: 30 nTPM
- thalamus: 30 nTPM
- white matter: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SIPA1L3.
Disease | AllUniProt
Conditions SIPA1L3 is implicated in, by any mechanism.
- Cataract 45 (CTRCT45) MIM:616851
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 599 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 45
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.2
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.55
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cytoskeleton organization
- epithelial cell morphogenesis
- establishment of epithelial cell polarity
- eye development
- hematopoietic progenitor cell differentiation
- regulation of small GTPase mediated signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SIPA1L3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SIPA1L3 as an antibody target. Whether an autoantibody or antibody against SIPA1L3 could matter depends on whether native SIPA1L3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SIPA1L3 is annotated at the cell surface, where native SIPA1L3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SIPA1L3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...