ENSG00000105738


Homo sapiens

Features
Gene ID: ENSG00000105738
  
Biological name :SIPA1L3
  
Synonyms : O60292 / signal induced proliferation associated 1 like 3 / SIPA1L3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.13
Gene start: 37907228
Gene end: 38208372
  
Corresponding Affymetrix probe sets: 213600_at (Human Genome U133 Plus 2.0 Array)   230564_at (Human Genome U133 Plus 2.0 Array)   236096_at (Human Genome U133 Plus 2.0 Array)   37831_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000222345
Ensembl peptide - ENSP00000468981
Ensembl peptide - ENSP00000472734
NCBI entrez gene - 23094     See in Manteia.
OMIM - 616655
RefSeq - XM_017026518
RefSeq - NM_015073
RefSeq - XM_005258671
RefSeq - XM_011526657
RefSeq - XM_017026517
RefSeq Peptide - NP_055888
swissprot - M0R2Q7
swissprot - M0QX89
swissprot - O60292
Ensembl - ENSG00000105738
  
Related genetic diseases (OMIM): 616851 - ?Cataract 45, 616851
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sipa1l3ENSDARG00000061699Danio rerio
 G3X9J0ENSMUSG00000030583Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1ENSG0000019755548
Q9P2F8 / SIPA1L2 / signal induced proliferation associated 1 like 2ENSG0000011699145
SIPA1 / Q96FS4 / signal-induced proliferation-associated 1ENSG0000021344525
GARNL3 / Q5VVW2 / GTPase activating Rap/RanGAP domain like 3ENSG0000013689514
Q2PPJ7 / RALGAPA2 / Ral GTPase activating protein catalytic alpha subunit 2ENSG0000018855912
Q684P5 / RAP1GAP2 / RAP1 GTPase activating protein 2ENSG0000013235912
Q6GYQ0 / RALGAPA1 / Ral GTPase activating protein catalytic alpha subunit 1ENSG0000017437312
P47736 / RAP1GAP / RAP1 GTPase activating proteinENSG0000007686412
TSC2 / P49815 / TSC complex subunit 2ENSG000001031978


Protein motifs (from Interpro)
Interpro ID Name
 IPR000331  Rap GTPase activating protein domain
 IPR001478  PDZ domain
 IPR021818  Signal-induced proliferation-associated 1-like protein, C-terminal
 IPR031204  Signal-induced proliferation-associated 1-like protein 3
 IPR035974  Rap/Ran-GAP superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IEA
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IEA
 biological_processGO:0003382 epithelial cell morphogenesis IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction IEA
 biological_processGO:0090162 establishment of epithelial cell polarity IEA
 cellular_componentGO:0001725 stress fiber IDA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0045177 apical part of cell IMP
 cellular_componentGO:0061689 tricellular tight junction IDA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr