ENSG00000127554


Homo sapiens

Features
Gene ID: ENSG00000127554
  
Biological name :GFER
  
Synonyms : GFER / growth factor, augmenter of liver regeneration / P55789
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p13.3
Gene start: 1984207
Gene end: 1987749
  
Corresponding Affymetrix probe sets: 204659_s_at (Human Genome U133 Plus 2.0 Array)   204660_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000248114
Ensembl peptide - ENSP00000456189
Ensembl peptide - ENSP00000456432
Ensembl peptide - ENSP00000455885
NCBI entrez gene - 2671     See in Manteia.
OMIM - 600924
RefSeq - NM_005262
RefSeq Peptide - NP_005253
swissprot - P55789
swissprot - H3BQQ4
swissprot - H3BRD2
swissprot - H3BRW3
Ensembl - ENSG00000127554
  
Related genetic diseases (OMIM): 613076 - Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
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
 gferENSDARG00000070061Danio rerio
 GFERENSGALG00000005579Gallus gallus
 GferENSMUSG00000040888Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR017905  ERV/ALR sulfhydryl oxidase domain
 IPR036774  ERV/ALR sulfhydryl oxidase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IBA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0015035 protein disulfide oxidoreductase activity IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016971 flavin-linked sulfhydryl oxidase activity IBA
 molecular_functionGO:0016972 thiol oxidase activity IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IDA


Pathways (from Reactome)
Pathway description
Mitochondrial protein import


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]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 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]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0003198 Myopathy 
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 HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000163528 CHCHD4 / Q8N4Q1 / coiled-coil-helix-coiled-coil-helix domain containing 4  / complex






 

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