ENSG00000110723


Homo sapiens

Features
Gene ID: ENSG00000110723
  
Biological name :EXPH5
  
Synonyms : exophilin 5 / EXPH5 / Q8NEV8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q22.3
Gene start: 108505431
Gene end: 108593738
  
Corresponding Affymetrix probe sets: 213929_at (Human Genome U133 Plus 2.0 Array)   214734_at (Human Genome U133 Plus 2.0 Array)   215226_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432683
Ensembl peptide - ENSP00000432546
Ensembl peptide - ENSP00000433909
Ensembl peptide - ENSP00000482691
Ensembl peptide - ENSP00000446434
Ensembl peptide - ENSP00000265843
NCBI entrez gene - 23086     See in Manteia.
OMIM - 612878
RefSeq - XM_017017404
RefSeq - XM_011542696
RefSeq - XM_011542698
RefSeq - XM_011542700
RefSeq - XM_017017397
RefSeq - XM_017017398
RefSeq - XM_017017399
RefSeq - XM_017017400
RefSeq - XM_017017401
RefSeq - XM_017017402
RefSeq - XM_017017403
RefSeq - NM_001144763
RefSeq - NM_001144764
RefSeq - NM_001144765
RefSeq - NM_001308019
RefSeq - NM_015065
RefSeq Peptide - NP_001138236
RefSeq Peptide - NP_001138237
RefSeq Peptide - NP_001294948
RefSeq Peptide - NP_055880
RefSeq Peptide - NP_001138235
swissprot - E9PPH6
swissprot - E9PIT1
swissprot - F5GXG5
swissprot - Q8NEV8
swissprot - A0A087WZJ0
Ensembl - ENSG00000110723
  
Related genetic diseases (OMIM): 615028 - Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
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
 ENSGALG00000027243Gallus gallus
 Exph5ENSMUSG00000034584Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR010911  Rab-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003334 keratinocyte development IMP
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0045921 positive regulation of exocytosis IMP
 biological_processGO:0050714 positive regulation of protein secretion IMP
 biological_processGO:0071985 multivesicular body sorting pathway IMP
 cellular_componentGO:0005768 endosome IDA
 molecular_functionGO:0017137 Rab GTPase binding IPI


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:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
Show

 HP:0001030 Fragile skin 
Show

 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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