ENSG00000109911


Homo sapiens

Features
Gene ID: ENSG00000109911
  
Biological name :ELP4
  
Synonyms : elongator acetyltransferase complex subunit 4 / ELP4 / Q96EB1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p13
Gene start: 31509700
Gene end: 31790328
  
Corresponding Affymetrix probe sets: 203829_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000379267
Ensembl peptide - ENSP00000368461
Ensembl peptide - ENSP00000432642
Ensembl peptide - ENSP00000492770
Ensembl peptide - ENSP00000492628
Ensembl peptide - ENSP00000492604
Ensembl peptide - ENSP00000492567
Ensembl peptide - ENSP00000492475
Ensembl peptide - ENSP00000492376
Ensembl peptide - ENSP00000492152
Ensembl peptide - ENSP00000491989
Ensembl peptide - ENSP00000491971
Ensembl peptide - ENSP00000491924
Ensembl peptide - ENSP00000491839
Ensembl peptide - ENSP00000491641
Ensembl peptide - ENSP00000491326
Ensembl peptide - ENSP00000491284
Ensembl peptide - ENSP00000491168
Ensembl peptide - ENSP00000491157
Ensembl peptide - ENSP00000491155
Ensembl peptide - ENSP00000491099
Ensembl peptide - ENSP00000490975
Ensembl peptide - ENSP00000298937
NCBI entrez gene - 26610     See in Manteia.
OMIM - 606985
RefSeq - NM_001288725
RefSeq - NM_001288726
RefSeq - NM_019040
RefSeq Peptide - NP_001275655
RefSeq Peptide - NP_061913
RefSeq Peptide - NP_001275654
swissprot - A0A1W2PRF5
swissprot - A0A1W2PRF0
swissprot - A0A1W2PR08
swissprot - A0A1W2PQZ6
swissprot - A0A1W2PQW5
swissprot - A0A1W2PQA7
swissprot - A0A1W2PQ05
swissprot - A0A1W2PPR3
swissprot - A0A1W2PPP6
swissprot - A0A1W2PP49
swissprot - A0A1W2PP47
swissprot - A0A1W2PNY5
swissprot - A0A1W2PNY4
swissprot - A0A1W2PNW2
swissprot - G5E9D4
swissprot - A0A1W2PNF7
swissprot - Q96EB1
swissprot - E9PPJ9
swissprot - A0A1W2PS93
swissprot - A0A1X7SBS0
swissprot - A0A1W2PS44
swissprot - A0A1W2PRJ0
Ensembl - ENSG00000109911
  
Related genetic diseases (OMIM): 617141 - ?Aniridia 2, 617141
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
 elp4ENSDARG00000008852Danio rerio
 ELP4ENSGALG00000012127Gallus gallus
 Elp4ENSMUSG00000027167Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR008728  Elongator complex protein 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002098 tRNA wobble uridine modification IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006368 transcription elongation from RNA polymerase II promoter TAS
 biological_processGO:0043966 histone H3 acetylation IDA
 biological_processGO:0043967 histone H4 acetylation IDA
 biological_processGO:0045859 regulation of protein kinase activity IEA
 cellular_componentGO:0000123 histone acetyltransferase complex IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0008023 transcription elongation factor complex IDA
 cellular_componentGO:0033588 Elongator holoenzyme complex IEA
 molecular_functionGO:0000993 RNA polymerase II core binding IDA
 molecular_functionGO:0004402 histone acetyltransferase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008607 phosphorylase kinase regulator activity IDA


Pathways (from Reactome)
Pathway description
HATs acetylate histones


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:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 HP:0000609 Optic nerve hypoplasia 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
Show

 HP:0007750 Foveal hypoplasia 
Show

 HP:0007759 Corneal opacities, not impairing visual acuity 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000134014 ELP3 / Q9H9T3 / elongator acetyltransferase complex subunit 3  / complex
 ENSG00000134759 ELP2 / Q6IA86 / elongator acetyltransferase complex subunit 2  / complex
 ENSG00000163832 ELP6 / Q0PNE2 / elongator acetyltransferase complex subunit 6  / complex
 ENSG00000170291 ELP5 / Q8TE02 / elongator acetyltransferase complex subunit 5  / complex
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / reaction
 ENSG00000070061 ELP1 / O95163 / elongator complex protein 1  / complex






 

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