ENSG00000064687


Homo sapiens

Features
Gene ID: ENSG00000064687
  
Biological name :ABCA7
  
Synonyms : ABCA7 / ATP binding cassette subfamily A member 7 / Q8IZY2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 1040101
Gene end: 1065572
  
Corresponding Affymetrix probe sets: 219577_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433545
Ensembl peptide - ENSP00000432031
Ensembl peptide - ENSP00000437311
Ensembl peptide - ENSP00000482948
Ensembl peptide - ENSP00000480811
Ensembl peptide - ENSP00000478857
Ensembl peptide - ENSP00000465322
Ensembl peptide - ENSP00000263094
Ensembl peptide - ENSP00000414062
Ensembl peptide - ENSP00000431473
NCBI entrez gene - 10347     See in Manteia.
OMIM - 605414
RefSeq - XM_017026143
RefSeq - XM_011527629
RefSeq - XM_011527630
RefSeq - XM_011527631
RefSeq - XM_011527632
RefSeq - XM_011527633
RefSeq - XM_011527634
RefSeq - XM_011527635
RefSeq - XM_011527636
RefSeq - XM_017026142
RefSeq - NM_019112
RefSeq - XM_006722616
RefSeq - XM_006722617
RefSeq - XM_006722618
RefSeq - XM_011527628
RefSeq Peptide - NP_061985
swissprot - E9PKG5
swissprot - A0A087WZX6
swissprot - A0A087WX86
swissprot - H0YCN5
swissprot - H0YF58
swissprot - A0A087WUR5
swissprot - E9PL63
swissprot - Q8IZY2
Ensembl - ENSG00000064687
  
Related genetic diseases (OMIM): 608907 - {Alzheimer disease 9, susceptibility to}, 608907
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
 zgc:172302ENSDARG00000074221Danio rerio
 ABCA7ENSGALG00000002453Gallus gallus
 Abca7ENSMUSG00000035722Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABCA1 / O95477 / ATP binding cassette subfamily A member 1ENSG0000016502952
ABCA4 / P78363 / ATP binding cassette subfamily A member 4ENSG0000019869146
ABCA2 / Q9BZC7 / ATP binding cassette subfamily A member 2ENSG0000010733137
ABCA13 / Q86UQ4 / ATP binding cassette subfamily A member 13ENSG0000017986932
ABCA12 / Q86UK0 / ATP binding cassette subfamily A member 12ENSG0000014445231
ABCA3 / Q99758 / ATP binding cassette subfamily A member 3ENSG0000016797228
ABCA9 / Q8IUA7 / ATP binding cassette subfamily A member 9ENSG0000015425820
ABCA8 / O94911 / ATP binding cassette subfamily A member 8ENSG0000014133820
ABCA6 / Q8N139 / ATP binding cassette subfamily A member 6ENSG0000015426219
ABCA5 / Q8WWZ7 / ATP binding cassette subfamily A member 5ENSG0000015426519
ABCA10 / Q8WWZ4 / ATP binding cassette subfamily A member 10ENSG0000015426318


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR003959  ATPase, AAA-type, core
 IPR017871  ABC transporter, conserved site
 IPR026082  ABC transporter A
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030369  ATP-binding cassette subfamily A member 7


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0007613 memory ISS
 biological_processGO:0010875 positive regulation of cholesterol efflux ISS
 biological_processGO:0018149 peptide cross-linking ISS
 biological_processGO:0033344 cholesterol efflux IDA
 biological_processGO:0033700 phospholipid efflux IDA
 biological_processGO:0034380 high-density lipoprotein particle assembly IDA
 biological_processGO:0034504 protein localization to nucleus ISS
 biological_processGO:0038027 apolipoprotein A-I-mediated signaling pathway IDA
 biological_processGO:0042985 negative regulation of amyloid precursor protein biosynthetic process ISS
 biological_processGO:0045332 phospholipid translocation IDA
 biological_processGO:0050766 positive regulation of phagocytosis ISS
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade ISS
 biological_processGO:1900223 positive regulation of amyloid-beta clearance ISS
 biological_processGO:1901076 positive regulation of engulfment of apoptotic cell ISS
 biological_processGO:1902430 negative regulation of amyloid-beta formation ISS
 biological_processGO:1902995 positive regulation of phospholipid efflux ISS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0001891 phagocytic cup ISS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0032587 ruffle membrane ISS
 cellular_componentGO:0043190 ATP-binding cassette (ABC) transporter complex TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005215 transporter activity TAS
 molecular_functionGO:0005524 ATP binding TAS
 molecular_functionGO:0016887 ATPase activity IDA
 molecular_functionGO:0034188 apolipoprotein A-I receptor activity IDA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA
 molecular_functionGO:0090554 phosphatidylcholine-translocating ATPase activity IDA
 molecular_functionGO:0090556 phosphatidylserine-translocating ATPase activity IDA


Pathways (from Reactome)
Pathway description
ABC transporters in lipid homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
Show

 HP:0000657 Oculomotor apraxia 
Show

 HP:0000713 Agitation 
Show

 HP:0000734 Disinhibition 
Show

 HP:0000738 Hallucinations 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001276 Hypertonia 
Show

 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
Show

 HP:0001300 Parkinsonism 
Show

 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
Show

 HP:0002120 Cerebral cortical atrophy 
Show

 HP:0002185 Neurofibrillary tangles 
Show

 HP:0002354 Memory impairment 
Show

 HP:0002381 Aphasia 
Show

 HP:0002463 Language impairment 
Show

 HP:0003791 Deposits immunoreactive to beta-amyloid protein 
Show

 HP:0010525 Finger agnosia "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators]
Show

 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
Show

 HP:0012433 Abnormal social behavior "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson]
Show

 HP:0030219 Semantic dementia "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118137 APOA1 / P02647 / apolipoprotein A1  / complex






 

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