ENSG00000137261


Homo sapiens

Features
Gene ID: ENSG00000137261
  
Biological name :KIAA0319
  
Synonyms : KIAA0319 / Q5VV43
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p22.3
Gene start: 24544104
Gene end: 24646155
  
Corresponding Affymetrix probe sets: 206017_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483665
Ensembl peptide - ENSP00000367459
Ensembl peptide - ENSP00000401086
Ensembl peptide - ENSP00000437656
Ensembl peptide - ENSP00000439700
Ensembl peptide - ENSP00000442403
NCBI entrez gene - 9856     See in Manteia.
OMIM - 609269
RefSeq - NM_001350406
RefSeq - NM_014809
RefSeq - XM_017011553
RefSeq - NM_001168374
RefSeq - NM_001168375
RefSeq - NM_001168376
RefSeq - NM_001168377
RefSeq - NM_001252328
RefSeq - NM_001350403
RefSeq - NM_001350404
RefSeq - XM_017011542
RefSeq - XM_017011543
RefSeq - XM_017011544
RefSeq - XM_017011545
RefSeq - XM_017011546
RefSeq - XM_017011547
RefSeq - XM_017011548
RefSeq - XM_017011549
RefSeq - XM_017011550
RefSeq - XM_017011551
RefSeq - XM_017011552
RefSeq - XM_011515025
RefSeq - XM_011515026
RefSeq - XM_017011541
RefSeq Peptide - NP_001161846
RefSeq Peptide - NP_001161847
RefSeq Peptide - NP_001161848
RefSeq Peptide - NP_001161849
RefSeq Peptide - NP_001239257
RefSeq Peptide - NP_001337332
RefSeq Peptide - NP_001337333
RefSeq Peptide - NP_001337335
RefSeq Peptide - NP_055624
swissprot - Q5VV43
swissprot - A0A087X0U9
Ensembl - ENSG00000137261
  
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
 KIAA0319ENSGALG00000041273Gallus gallus
 Q5SZV5ENSMUSG00000006711Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IZA0 / KIAA0319L / KIAA0319 likeENSG0000014268746
LRP11 / Q86VZ4 / LDL receptor related protein 11ENSG000001202568


Protein motifs (from Interpro)
Interpro ID Name
 IPR000601  PKD domain
 IPR002859  PKD/REJ-like domain
 IPR003961  Fibronectin type III
 IPR011106  Seven cysteines, N-terminal
 IPR013783  Immunoglobulin-like fold
 IPR013980  MANSC domain
 IPR022409  PKD/Chitinase domain
 IPR035986  PKD domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IGI
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:2000171 negative regulation of dendrite development IGI
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000137261 Q5VV43 / KIAA0319  / complex






 

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