ENSG00000223953


Homo sapiens

Features
Gene ID: ENSG00000223953
  
Biological name :C1QTNF5
  
Synonyms : C1q and TNF related 5 / C1QTNF5 / Q9BXJ0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 119338939
Gene end: 119340940
  
Corresponding Affymetrix probe sets: 223499_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431140
Ensembl peptide - ENSP00000489201
Ensembl peptide - ENSP00000456533
NCBI entrez gene - 114902     See in Manteia.
OMIM - 608752
RefSeq - NM_001278431
RefSeq - NM_015645
RefSeq Peptide - NP_001265360
RefSeq Peptide - NP_056460
swissprot - Q9BXJ0
swissprot - A0A024R3F8
swissprot - A0A0U1RQW5
Ensembl - ENSG00000223953
  
Related genetic diseases (OMIM): 605670 - Retinal degeneration, late-onset, autosomal dominant, 605670
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
 c1qtnf5ENSDARG00000056134Danio rerio
 C1QTNF5ENSGALG00000006758Gallus gallus
 Q8K479ENSMUSG00000079592Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q03692 / COL10A1 / collagen type X alpha 1 chainENSG0000012350040
P0C862 / C1QTNF9 / C1q and TNF related 9ENSG0000024065439
COL8A2 / P25067 / collagen type VIII alpha 2 chainENSG0000017181238
B2RNN3 / C1QTNF9B / C1q and TNF related 9BENSG0000020586338
OTOL1 / A6NHN0 / otolin 1ENSG0000018244737
COL8A1 / P27658 / collagen type VIII alpha 1 chainENSG0000014481037
ADIPOQ / Q15848 / adiponectin, C1Q and collagen domain containingENSG0000018109236
C1QC / P02747 / complement C1q C chainENSG0000015918936
Q9BXJ2 / C1QTNF7 / C1q and TNF related 7ENSG0000016314536
Q9BXJ5 / C1QTNF2 / C1q and TNF related 2ENSG0000014586135
C1QB / P02746 / complement C1q B chainENSG0000017336934


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008160  Collagen triple helix repeat
 IPR008983  Tumour necrosis factor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009306 protein secretion IEA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0070206 protein trimerization IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030133 transport vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
Show

 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
Show

 HP:0000546 Retinal degeneration 
Show

 HP:0000572 Visual loss 
Show

 HP:0000575 Scotoma "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators]
Show

 HP:0007830 Night blindness beginning in the 6th decade 
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