ENSG00000149571


Homo sapiens

Features
Gene ID: ENSG00000149571
  
Biological name :KIRREL3
  
Synonyms : KIRREL3 / kirre like nephrin family adhesion molecule 3 / Q8IZU9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q24.2
Gene start: 126423359
Gene end: 127003460
  
Corresponding Affymetrix probe sets: 240402_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435466
Ensembl peptide - ENSP00000434081
Ensembl peptide - ENSP00000435094
NCBI entrez gene - 84623     See in Manteia.
OMIM - 607761
RefSeq - XM_017018420
RefSeq - NM_001161707
RefSeq - NM_001301097
RefSeq - NM_032531
RefSeq - XM_011543031
RefSeq - XM_011543032
RefSeq - XM_011543033
RefSeq - XM_017018418
RefSeq - XM_017018419
RefSeq - XM_011543026
RefSeq - XM_011543027
RefSeq - XM_011543028
RefSeq - XM_011543030
RefSeq Peptide - NP_001155179
RefSeq Peptide - NP_001288026
RefSeq Peptide - NP_115920
swissprot - Q8IZU9
swissprot - E9PRX9
Ensembl - ENSG00000149571
  
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
 CABZ01073963.1ENSDARG00000115903Danio rerio
 CABZ01112461.1ENSDARG00000113833Danio rerio
 kirrel3aENSDARG00000075806Danio rerio
 KIRREL3ENSGALG00000029197Gallus gallus
 Q8BR86ENSMUSG00000032036Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1ENSG0000018385343
Q6UWL6 / KIRREL2 / kirre like nephrin family adhesion molecule 2ENSG0000012625934
NPHS1 / O60500 / NPHS1, nephrinENSG0000016127022


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0002121 inter-male aggressive behavior IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS
 biological_processGO:0007416 synapse assembly ISS
 biological_processGO:0021740 principal sensory nucleus of trigeminal nerve development IEA
 biological_processGO:0021766 hippocampus development ISS
 biological_processGO:0030097 hemopoiesis ISS
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0072102 glomerulus morphogenesis IEA
 cellular_componentGO:0005576 extracellular region ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISS
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0043198 dendritic shaft IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Nephrin family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction






 

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contact: otassy@igbmc.fr