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Protein

Signal-induced proliferation-associated 1-like protein 3

Gene

SIPA1L3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
Signal-induced proliferation-associated 1-like protein 3
Short name:
SIPA1-like protein 3
Alternative name(s):
SPA-1-like protein 3
Gene namesi
Name:SIPA1L3
Synonyms:KIAA0545, SPAL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105738.10
HGNCiHGNC:23801 SIPA1L3
MIMi616655 gene
neXtProtiNX_O60292

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal translocation involving SIPA1L3 is found in a patient with bilateral severe ocular abnormalities including congenital cataracts, corneal clouding, iridocorneal and lenticular adhesions and microphthalmia. Chromosomal translocation t(2;19)(q37.3;q13.1). In addition to translocation, missense variant has been found in patient with bilateral congenital cataracts (PubMed:26231217).1 Publication
Cataract 45 (CTRCT45)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
See also OMIM:616851

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi23094
MalaCardsiSIPA1L3
MIMi616851 phenotype
OpenTargetsiENSG00000105738
Orphaneti98994 Total early-onset cataract
PharmGKBiPA134866783

Polymorphism and mutation databases

BioMutaiSIPA1L3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000567521 – 1781Signal-induced proliferation-associated 1-like protein 3Add BLAST1781

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei100PhosphoserineBy similarity1
Modified residuei146PhosphoserineBy similarity1
Modified residuei401PhosphoserineCombined sources1
Modified residuei1364PhosphoserineCombined sources1
Modified residuei1387PhosphothreonineBy similarity1
Modified residuei1448N6-acetyllysineCombined sources1
Modified residuei1544PhosphoserineCombined sources1
Modified residuei1547PhosphoserineBy similarity1
Modified residuei1619PhosphoserineBy similarity1
Modified residuei1622PhosphoserineBy similarity1
Modified residuei1677PhosphoserineBy similarity1
Modified residuei1699PhosphothreonineCombined sources1
Modified residuei1703PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO60292
MaxQBiO60292
PaxDbiO60292
PeptideAtlasiO60292
PRIDEiO60292
ProteomicsDBi49323

PTM databases

iPTMnetiO60292
PhosphoSitePlusiO60292

Expressioni

Gene expression databases

BgeeiENSG00000105738 Expressed in 222 organ(s), highest expression level in intestine
CleanExiHS_SIPA1L3
ExpressionAtlasiO60292 baseline and differential
GenevisibleiO60292 HS

Organism-specific databases

HPAiHPA042072
HPA045480

Interactioni

Protein-protein interaction databases

BioGridi116722, 50 interactors
IntActiO60292, 34 interactors
MINTiO60292
STRINGi9606.ENSP00000222345

Structurei

3D structure databases

ProteinModelPortaliO60292
SMRiO60292
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini611 – 828Rap-GAPPROSITE-ProRule annotationAdd BLAST218
Domaini966 – 1042PDZPROSITE-ProRule annotationAdd BLAST77

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1720 – 1774Sequence analysisAdd BLAST55

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3686 Eukaryota
ENOG410XTIX LUCA
GeneTreeiENSGT00760000119182
HOGENOMiHOG000154319
HOVERGENiHBG056135
InParanoidiO60292
KOiK17703
OMAiKDQYQYR
OrthoDBiEOG091G016P
PhylomeDBiO60292
TreeFamiTF318626

Family and domain databases

Gene3Di3.40.50.11210, 1 hit
InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR035974 Rap/Ran-GAP_sf
IPR000331 Rap_GAP_dom
IPR031204 SIPA1L3
IPR021818 SIPA1L_C
PANTHERiPTHR15711:SF15 PTHR15711:SF15, 1 hit
PfamiView protein in Pfam
PF02145 Rap_GAP, 1 hit
PF11881 SPAR_C, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SUPFAMiSSF111347 SSF111347, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS50085 RAPGAP, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O60292-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTYRAIPSD GVDLAASCGA RVGDVLPGPH TGDYAPLGFW AQNGSMSQPL
60 70 80 90 100
GESPATATAT ATATTRPSPT TPAMPKMGVR ARVADWPPKR EALREHSNPS
110 120 130 140 150
PSQDTDGTKA TKMAHSMRSI QNGQPPTSTP ASSGSKAFHR LSRRRSKDVE
160 170 180 190 200
FQDGWPRSPG RAFLPLRHRS SSEITLSECD AEDAGEPRGA RHTGALPLFR
210 220 230 240 250
EYGSTSSIDV QGMPEQSFFD ILNEFRSEQP DARGCQALTE LLRADPGPHL
260 270 280 290 300
MGGGGGAKGD SHNGQPAKDS LLPLQPTKEK EKARKKPARG LGGGDTVDSS
310 320 330 340 350
IFRKLRSSKP EGEAGRSPGE ADEGRSPPEA SRPWVCQKSF AHFDVQSMLF
360 370 380 390 400
DLNEAAANRV SVSQRRNTTT GASAASAASA MASLTASRAH SLGGLDPAFT
410 420 430 440 450
STEDLNCKEN LEQDLGDDNS NDLLLSCPHF RNEIGGECER NVSFSRASVG
460 470 480 490 500
SPSSGEGHLA EPALSAYRTN ASISVLEVPK EQQRTQSRPR QYSIEHVDLG
510 520 530 540 550
ARYYQDYFVG KEHANYFGVD EKLGPVAVSI KREKLEDHKE HGPQYQYRII
560 570 580 590 600
FRTRELITLR GSILEDATPT ATKHGTGRGL PLKDALEYVI PELNIHCLRL
610 620 630 640 650
ALNTPKVTEQ LLKLDEQGLC RKHKVGILYC KAGQSSEEEM YNNEEAGPAF
660 670 680 690 700
EEFLSLIGEK VCLKGFTKYA AQLDVKTDST GTHSLYTMYQ DYEIMFHVST
710 720 730 740 750
LLPYTPNNRQ QLLRKRHIGN DIVTIIFQEP GALPFTPKNI RSHFQHVFII
760 770 780 790 800
VRVHNPCTDN VCYSMAVTRS KDAPPFGPPI PSGTTFRKSD VFRDFLLAKV
810 820 830 840 850
INAENAAHKS DKFHTMATRT RQEYLKDLAE NCVSNTPIDS TGKFNLISLT
860 870 880 890 900
SKKKEKTKAR AGAEQHSAGA IAWRVVAQDY AQGVEIDCIL GISNEFVVLL
910 920 930 940 950
DLRTKEVVFN CYCGDVIGWT PDSSTLKIFY GRGDHIFLQA TEGSVEDIRE
960 970 980 990 1000
IVQRLKVMTS GWETVDMTLR RNGLGQLGFH VKYDGTVAEV EDYGFAWQAG
1010 1020 1030 1040 1050
LRQGSRLVEI CKVAVVTLTH DQMIDLLRTS VTVKVVIIPP FEDGTPRRGW
1060 1070 1080 1090 1100
PETYDMNTSE PKTEQESITP GGRPPYRSNA PWQWSGPASH NSLPASKWAT
1110 1120 1130 1140 1150
PTTPGHAQSL SRPLKQTPIV PFRESQPLHS KRPVSFPETP YTVSPAGADR
1160 1170 1180 1190 1200
VPPYRQPSGS FSTPGSATYV RYKPSPERYT AAPHPLLSLD PHFSHDGTSS
1210 1220 1230 1240 1250
GDSSSGGLTS QESTMERQKP EPLWHVPAQA RLSAIAGSSG NKHPSRQDAA
1260 1270 1280 1290 1300
GKDSPNRHSK GEPQYSSHSS SNTLSSNASS SHSDDRWFDP LDPLEPEQDP
1310 1320 1330 1340 1350
LSKGGSSDSG IDTTLYTSSP SCMSLAKAPR PAKPHKPPGS MGLCGGGREA
1360 1370 1380 1390 1400
AGRSHHADRR REVSPAPAVA GQSKGYRPKL YSSGSSTPTG LAGGSRDPPR
1410 1420 1430 1440 1450
QPSDMGSRVG YPAQVYKTAS AETPRPSQLA QPSPFQLSAS VPKSFFSKQP
1460 1470 1480 1490 1500
VRNKHPTGWK RTEEPPPRPL PFSDPKKQVD TNTKNVFGQP RLRASLRDLR
1510 1520 1530 1540 1550
SPRKNYKSTI EDDLKKLIIM DNLGPEQERD TGQSPQKGLQ RTLSDESLCS
1560 1570 1580 1590 1600
GRREPSFASP AGLEPGLPSD VLFTSTCAFP SSTLPARRQH QHPHPPVGPG
1610 1620 1630 1640 1650
ATPAAGSGFP EKKSTISASE LSLADGRDRP LRRLDPGLMP LPDTAAGLEW
1660 1670 1680 1690 1700
SSLVNAAKAY EVQRAVSLFS LNDPALSPDI PPAHSPVHSH LSLERGPPTP
1710 1720 1730 1740 1750
RTTPTMSEEP PLDLTGKVYQ LEVMLKQLHT DLQKEKQDKV VLQSEVASLR
1760 1770 1780
QNNQRLQEES QAASEQLRKF AEIFCREKKE L
Length:1,781
Mass (Da):194,610
Last modified:March 7, 2006 - v3
Checksum:i6A91F43B5BC3E175
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QX89M0QX89_HUMAN
Signal-induced proliferation-associ...
SIPA1L3
165Annotation score:
M0R2Q7M0R2Q7_HUMAN
Signal-induced proliferation-associ...
SIPA1L3
184Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075045148D → Y Found in a patient with bilateral congenital cataracts; unknown pathological significance; lack of normal basal actin stress fiber formation; absence of SIPA1L3 and F-actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs138476311EnsemblClinVar.1
Natural variantiVAR_0254761371G → S. Corresponds to variant dbSNP:rs2304133Ensembl.1
Natural variantiVAR_0254771450P → A. Corresponds to variant dbSNP:rs3745945Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168880 mRNA Translation: AAO12531.1
AB011117 mRNA Translation: BAA25471.2
AC011465 Genomic DNA No translation available.
AC011479 Genomic DNA No translation available.
CCDSiCCDS33007.1
RefSeqiNP_055888.1, NM_015073.2
XP_005258728.1, XM_005258671.4
XP_011524959.1, XM_011526657.2
XP_016882006.1, XM_017026517.1
UniGeneiHs.655502

Genome annotation databases

EnsembliENST00000222345; ENSP00000222345; ENSG00000105738
GeneIDi23094
KEGGihsa:23094
UCSCiuc002ohk.4 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168880 mRNA Translation: AAO12531.1
AB011117 mRNA Translation: BAA25471.2
AC011465 Genomic DNA No translation available.
AC011479 Genomic DNA No translation available.
CCDSiCCDS33007.1
RefSeqiNP_055888.1, NM_015073.2
XP_005258728.1, XM_005258671.4
XP_011524959.1, XM_011526657.2
XP_016882006.1, XM_017026517.1
UniGeneiHs.655502

3D structure databases

ProteinModelPortaliO60292
SMRiO60292
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116722, 50 interactors
IntActiO60292, 34 interactors
MINTiO60292
STRINGi9606.ENSP00000222345

PTM databases

iPTMnetiO60292
PhosphoSitePlusiO60292

Polymorphism and mutation databases

BioMutaiSIPA1L3

Proteomic databases

EPDiO60292
MaxQBiO60292
PaxDbiO60292
PeptideAtlasiO60292
PRIDEiO60292
ProteomicsDBi49323

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222345; ENSP00000222345; ENSG00000105738
GeneIDi23094
KEGGihsa:23094
UCSCiuc002ohk.4 human

Organism-specific databases

CTDi23094
DisGeNETi23094
EuPathDBiHostDB:ENSG00000105738.10
GeneCardsiSIPA1L3
HGNCiHGNC:23801 SIPA1L3
HPAiHPA042072
HPA045480
MalaCardsiSIPA1L3
MIMi616655 gene
616851 phenotype
neXtProtiNX_O60292
OpenTargetsiENSG00000105738
Orphaneti98994 Total early-onset cataract
PharmGKBiPA134866783
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3686 Eukaryota
ENOG410XTIX LUCA
GeneTreeiENSGT00760000119182
HOGENOMiHOG000154319
HOVERGENiHBG056135
InParanoidiO60292
KOiK17703
OMAiKDQYQYR
OrthoDBiEOG091G016P
PhylomeDBiO60292
TreeFamiTF318626

Miscellaneous databases

ChiTaRSiSIPA1L3 human
GenomeRNAii23094
PROiPR:O60292
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105738 Expressed in 222 organ(s), highest expression level in intestine
CleanExiHS_SIPA1L3
ExpressionAtlasiO60292 baseline and differential
GenevisibleiO60292 HS

Family and domain databases

Gene3Di3.40.50.11210, 1 hit
InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR035974 Rap/Ran-GAP_sf
IPR000331 Rap_GAP_dom
IPR031204 SIPA1L3
IPR021818 SIPA1L_C
PANTHERiPTHR15711:SF15 PTHR15711:SF15, 1 hit
PfamiView protein in Pfam
PF02145 Rap_GAP, 1 hit
PF11881 SPAR_C, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SUPFAMiSSF111347 SSF111347, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS50085 RAPGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSI1L3_HUMAN
AccessioniPrimary (citable) accession number: O60292
Secondary accession number(s): Q2TV87
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: March 7, 2006
Last modified: November 7, 2018
This is version 145 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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