ENSG00000089818


Homo sapiens

Features
Gene ID: ENSG00000089818
  
Biological name :NECAP1
  
Synonyms : NECAP1 / NECAP endocytosis associated 1 / Q8NC96
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.31
Gene start: 8076939
Gene end: 8097859
  
Corresponding Affymetrix probe sets: 209300_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440658
Ensembl peptide - ENSP00000492613
Ensembl peptide - ENSP00000492560
Ensembl peptide - ENSP00000492554
Ensembl peptide - ENSP00000492472
Ensembl peptide - ENSP00000492452
Ensembl peptide - ENSP00000492254
Ensembl peptide - ENSP00000491786
Ensembl peptide - ENSP00000491384
Ensembl peptide - ENSP00000491067
Ensembl peptide - ENSP00000490999
Ensembl peptide - ENSP00000341737
Ensembl peptide - ENSP00000401963
Ensembl peptide - ENSP00000439319
NCBI entrez gene - 25977     See in Manteia.
OMIM - 611623
RefSeq - NM_015509
RefSeq Peptide - NP_056324
swissprot - A0A1W2PRL5
swissprot - A0A1W2PR27
swissprot - A0A1W2PR09
swissprot - A0A1W2PQK9
swissprot - A0A1W2PPF5
swissprot - A0A1W2PNT6
swissprot - F5GYH1
swissprot - F5H2U7
swissprot - A0A1W2PRW5
swissprot - Q8NC96
swissprot - A0A1W2PRQ7
swissprot - A0A1W2PRM0
Ensembl - ENSG00000089818
  
Related genetic diseases (OMIM): 615833 - ?Epileptic encephalopathy, early infantile, 21, 615833
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
 necap1ENSDARG00000020798Danio rerio
 NECAP1ENSGALG00000037656Gallus gallus
 Necap1ENSMUSG00000030327Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NECAP2 / Q9NVZ3 / NECAP endocytosis associated 2ENSG0000015719158


Protein motifs (from Interpro)
Interpro ID Name
 IPR011993  PH-like domain superfamily
 IPR012466  NECAP, PHear domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030125 clathrin vesicle coat IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


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: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:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001558 Decreased fetal movement "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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