ENSG00000142687


Homo sapiens

Features
Gene ID: ENSG00000142687
  
Biological name :KIAA0319L
  
Synonyms : KIAA0319L / KIAA0319 like / Q8IZA0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p34.3
Gene start: 35433490
Gene end: 35557950
  
Corresponding Affymetrix probe sets: 217929_s_at (Human Genome U133 Plus 2.0 Array)   222468_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000395883
Ensembl peptide - ENSP00000393862
Ensembl peptide - ENSP00000407576
Ensembl peptide - ENSP00000420742
Ensembl peptide - ENSP00000420369
Ensembl peptide - ENSP00000420226
Ensembl peptide - ENSP00000419396
Ensembl peptide - ENSP00000417411
Ensembl peptide - ENSP00000318406
Ensembl peptide - ENSP00000362363
NCBI entrez gene - 79932     See in Manteia.
OMIM - 613535
RefSeq - XM_017002378
RefSeq - XM_017002368
RefSeq - XM_017002369
RefSeq - XM_017002370
RefSeq - XM_017002371
RefSeq - XM_017002372
RefSeq - XM_017002373
RefSeq - XM_017002374
RefSeq - XM_017002375
RefSeq - XM_017002376
RefSeq - XM_017002377
RefSeq - NM_024874
RefSeq - XM_006710907
RefSeq - XM_006710909
RefSeq - XM_006710910
RefSeq - XM_011542179
RefSeq - XM_011542180
RefSeq - XM_017002366
RefSeq - XM_017002367
RefSeq Peptide - NP_079150
swissprot - C9JVB2
swissprot - C9JQ56
swissprot - C9J519
swissprot - B4DYG9
swissprot - F8WAW2
swissprot - H0Y4S8
swissprot - B1AN15
swissprot - E7EN73
swissprot - Q8IZA0
Ensembl - ENSG00000142687
  
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
 si:ch211-193k19.1ENSDARG00000035660Danio rerio
 KIAA0319LENSGALG00000002445Gallus gallus
 Q8K135ENSMUSG00000028830Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q5VV43 / KIAA0319ENSG0000013726147
LRP11 / Q86VZ4 / LDL receptor related protein 11ENSG000001202568


Protein motifs (from Interpro)
Interpro ID Name
 IPR000601  PKD domain
 IPR013783  Immunoglobulin-like fold
 IPR013980  MANSC domain
 IPR022409  PKD/Chitinase domain
 IPR029865  Dyslexia-associated protein KIAA0319-like protein
 IPR035986  PKD domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001053 Hypopigmented skin patches 
Show

 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002020 Gastroesophageal reflux 
Show

 HP:0002092 Pulmonary hypertension 
Show

 HP:0002206 Pulmonary fibrosis 
Show

 HP:0002960 Autoimmune disease 
Show

 HP:0008366 Contractures involving the joints of the feet 
Show

 HP:0009473 Joint contractures involving the joints of the hand 
Show

 HP:0100579 Mucosal telangiectasiae "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken]
Show

 HP:0100585 Teleangiectasia of the skin 
Show

 HP:0100958 Narrow foramen obturatorium 
Show

 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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