ENSG00000086288


Homo sapiens

Features
Gene ID: ENSG00000086288
  
Biological name :NME8
  
Synonyms : NME8 / NME/NM23 family member 8 / Q8N427
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p14.1
Gene start: 37848597
Gene end: 37900401
  
Corresponding Affymetrix probe sets: 220384_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000390047
Ensembl peptide - ENSP00000408841
Ensembl peptide - ENSP00000397063
Ensembl peptide - ENSP00000390596
Ensembl peptide - ENSP00000199447
NCBI entrez gene - 51314     See in Manteia.
OMIM - 607421
RefSeq - NM_016616
RefSeq Peptide - NP_057700
swissprot - Q8N427
swissprot - F8WEA2
swissprot - C9JG62
swissprot - C9JIT0
Ensembl - ENSG00000086288
  
Related genetic diseases (OMIM): 610852 - Ciliary dyskinesia, primary, 6, 610852
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
 NME8ENSGALG00000029677Gallus gallus
 Nme8ENSMUSG00000041138Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NME7 / Q9Y5B8 / NME/NM23 family member 7ENSG0000014315617
NME9 / Q86XW9 / NME/NM23 family member 9ENSG0000018132215
NME5 / P56597 / NME/NM23 family member 5ENSG0000011298111
NME6 / O75414 / NME/NM23 nucleoside diphosphate kinase 6ENSG0000017211310
NME3 / Q13232 / NME/NM23 nucleoside diphosphate kinase 3ENSG000001030247
NME1-NME2 / NME1-NME2 readthroughENSG000000110527
NME1 / P15531 / NME/NM23 nucleoside diphosphate kinase 1ENSG000002396727
NME2 / P22392 / NME/NM23 nucleoside diphosphate kinase 2ENSG000002436787
NME4 / O00746 / NME/NM23 nucleoside diphosphate kinase 4ENSG000001032026


Protein motifs (from Interpro)
Interpro ID Name
 IPR001564  Nucleoside diphosphate kinase
 IPR013766  Thioredoxin domain
 IPR017937  Thioredoxin, conserved site
 IPR034907  Nucleoside diphosphate kinase-like domain
 IPR036249  Thioredoxin-like superfamily
 IPR036850  Nucleoside diphosphate kinase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006165 nucleoside diphosphate phosphorylation IEA
 biological_processGO:0006183 GTP biosynthetic process IEA
 biological_processGO:0006228 UTP biosynthetic process IEA
 biological_processGO:0006241 CTP biosynthetic process IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0034614 cellular response to reactive oxygen species IEA
 biological_processGO:0045454 cell redox homeostasis IEA
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0036157 outer dynein arm IMP
 cellular_componentGO:0097228 sperm principal piece IEA
 cellular_componentGO:0097598 sperm cytoplasmic droplet IEA
 molecular_functionGO:0004550 nucleoside diphosphate kinase activity IBA
 molecular_functionGO:0008017 microtubule binding IDA


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]
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 HP:0000246 Sinusitis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012262 Abnormal ciliary motility "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, pmid:19606528, pmid:20301301]
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0200109 Absent/shortened outer dynein arms 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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