ABCA2
entrez
20
canonical
uniprot
Q9BZC7
canonical
ensembl
ENSG00000107331
resolver
ensp
ENSP00000344155
resolver
ensp
ENSP00000360666
resolver
ensp
ENSP00000481105
resolver
genesymbol
ABCA2
resolver
genesymbol_syn
ABC2
resolver
genesymbol_syn
KIAA1062
resolver
hgnc
HGNC:32
resolver
uniprot
A6NED5
resolver
uniprot
Q5SPY5
resolver
uniprot
Q5W9G5
resolver
uniprot
Q76MW7
resolver
uniprot
Q9HC28
resolver
uniprot_entry
ABCA2_HUMAN
resolver
uniprot_sec
A6NED5
resolver
uniprot_sec
Q5SPY5
resolver
uniprot_sec
Q5W9G5
resolver
uniprot_sec
Q76MW7
resolver
uniprot_sec
Q9HC28
resolver
amino_acid_sequence
MGFLHQLQLLLWKNVTLKRRSPWVLAFEIFIPLVLFFILLGLRQKKPTISVKEAFYTAAPLTSAGILPVMQSLCPDGQRDEFGFLQYANSTVTQLLERLDRVVEEGNLFDPARPSLGSELEALRQHLEALSAGPGTSGSHLDRSTVSSFSLDSVARNPQELWRFLTQNLSLPNSTAQALLAARVDPPEVYHLLFGPSSALDSQSGLHKGQEPWSRLGGNPLFRMEELLLAPALLEQLTCTPGSGELGRILTVPESQKGALQGYRDAVCSGQAAARARRFSGLSAELRNQLDVAKVSQQLGLDAPNGSDSSPQAPPPRRLQALLGDLLDAQKVLQDVDVLSALALLLPQGACTGRTPGPPASGAGGAANGTGAGAVMGPNATAEEGAPSAAALATPDTLQGQCSAFVQLWAGLQPILCGNNRTIEPEALRRGNMSSLGFTSKEQRNLGLLVHLMTSNPKILYAPAGSEVDRVILKANETFAFVGNVTHYAQVWLNISAEIRSFLEQGRLQQHLRWLQQYVAELRLHPEALNLSLDELPPALRQDNFSLPSGMALLQQLDTIDNAACGWIQFMSKVSVDIFKGFPDEESIVNYTLNQAYQDNVTVFASVIFQTRKDGSLPPHVHYKIRQNSSFTEKTNEIRRAYWRPGPNTGGRFYFLYGFVWIQDMMERAIIDTFVGHDVVEPGSYVQMFPYPCYTRDDFLFVIEHMMPLCMVISWVYSVAMTIQHIVAEKEHRLKEVMKTMGLNNAVHWVAWFITGFVQLSISVTALTAILKYGQVLMHSHVVIIWLFLAVYAVATIMFCFLVSVLYSKAKLASACGGIIYFLSYVPYMYVAIREEVAHDKITAFEKCIASLMSTTAFGLGSKYFALYEVAGVGIQWHTFSQSPVEGDDFNLLLAVTMLMVDAVVYGILTWYIEAVHPGMYGLPRPWYFPLQKSYWLGSGRTEAWEWSWPWARTPRLSVMEEDQACAMESRRFEETRGMEEEPTHLPLVVCVDKLTKVYKDDKKLALNKLSLNLYENQVVSFLGHNGAGKTTTMSILTGLFPPTSGSATIYGHDIRTEMDEIRKNLGMCPQHNVLFDRLTVEEHLWFYSRLKSMAQEEIRREMDKMIEDLELSNKRHSLVQTLSGGMKRKLSVAIAFVGGSRAIILDEPTAGVDPYARRAIWDLILKYKPGRTILLSTHHMDEADLLGDRIAIISHGKLKCCGSPLFLKGTYGDGYRLTLVKRPAEPGGPQEPGLASSPPGRAPLSSCSELQVSQFIRKHVASCLLVSDTSTELSYILPSEAAKKGAFERLFQHLERSLDALHLSSFGLMDTTLEEVFLKVSEEDQSLENSEADVKESRKDVLPGAEGPASGEGHAGNLARCSELTQSQASLQSASSVGSARGDEGAGYTDVYGDYRPLFDNPQDPDNVSLQEVEAEALSRVGQGSRKLDGGWLKVRQFHGLLVKRFHCARRNSKALFSQILLPAFFVCVAMTVALSVPEIGDLPPLVLSPSQYHNYTQPRGNFIPYANEERREYRLRLSPDASPQQLVSTFRLPSGVGATCVLKSPANGSLGPTLNLSSGESRLLAARFFDSMCLESFTQGLPLSNFVPPPPSPAPSDSPASPDEDLQAWNVSLPPTAGPEMWTSAPSLPRLVREPVRCTCSAQGTGFSCPSSVGGHPPQMRVVTGDILTDITGHNVSEYLLFTSDRFRLHRYGAITFGNVLKSIPASFGTRAPPMVRKIAVRRAAQVFYNNKGYHSMPTYLNSLNNAILRANLPKSKGNPAAYGITVTNHPMNKTSASLSLDYLLQGTDVVIAIFIIVAMSFVPASFVVFLVAEKSTKAKHLQFVSGCNPIIYWLANYVWDMLNYLVPATCCVIILFVFDLPAYTSPTNFPAVLSLFLLYGWSITPIMYPASFWFEVPSSAYVFLIVINLFIGITATVATFLLQLFEHDKDLKVVNSYLKSCFLIFPNYNLGHGLMEMAYNEYINEYYAKIGQFDKMKSPFEWDIVTRGLVAMAVEGVVGFLLTIMCQYNFLRRPQRMPVSTKPVEDDVDVASERQRVLRGDADNDMVKIENLTKVYKSRKIGRILAVDRLCLGVRPGECFGLLGVNGAGKTSTFKMLTGDESTTGGEAFVNGHSVLKELLQVQQSLGYCPQCDALFDELTAREHLQLYTRLRGISWKDEARVVKWALEKLELTKYADKPAGTYSGGNKRKLSTAIALIGYPAFIFLDEPTTGMDPKARRFLWNLILDLIKTGRSVVLTSHSMEECEALCTRLAIMVNGRLRCLGSIQHLKNRFGDGYMITVRTKSSQSVKDVVRFFNRNFPEAMLKERHHTKVQYQLKSEHISLAQVFSKMEQVSGVLGIEDYSVSQTTLDNVFVNFAKKQSDNLEQQETEPPSALQSPLGCLLSLLRPRSAPTELRALVADEPEDLDTEDEGLISFEEERAQLSFNTDTLC
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) [MIM:618808]: An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures. {ECO:0000269|PubMed:29302074, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.-
uniprot
proteins
function
FUNCTION: Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable) (PubMed:15238223, PubMed:21810484, PubMed:24201375). May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes (PubMed:24201375). In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP (PubMed:22086926, PubMed:26510981). May play a role in myelin formation (By similarity). {ECO:0000250|UniProtKB:P41234, ECO:0000269|PubMed:15238223, ECO:0000269|PubMed:21810484, ECO:0000269|PubMed:22086926, ECO:0000269|PubMed:24201375, ECO:0000269|PubMed:26510981, ECO:0000305|PubMed:15999530}.
uniprot
proteins
mass_dalton
269833
uniprot
proteins
mutagenesis
MUTAGEN 271; /note="Q->R: Abolishes methylation by N6AMT1."; /evidence="ECO:0000269|PubMed:26797129
uniprot
proteins
post_translational_modification
PTM: Methylated at Gln-271 by N6AMT1. {ECO:0000269|PubMed:26797129}.
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCA family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
11178988
uniprot
proteins
pubmed
11309290
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15093135
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15238223
uniprot
proteins
pubmed
15999530
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21810484
uniprot
proteins
pubmed
22086926
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24201375
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26510981
uniprot
proteins
pubmed
26797129
uniprot
proteins
pubmed
29302074
uniprot
proteins
pubmed
30237576
uniprot
proteins
sequence_length
2435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:11309290, ECO:0000269|PubMed:15093135}; Multi-pass membrane protein {ECO:0000269|PubMed:11309290}. Lysosome membrane {ECO:0000269|PubMed:11309290, ECO:0000269|PubMed:15093135}; Multi-pass membrane protein {ECO:0000269|PubMed:11309290}. Note=Forms discrete, punctate intracellular vesicles. {ECO:0000269|PubMed:11309290}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 54..74; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 699..719; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 750..770; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 782..802; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 813..833; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 857..877; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 893..913; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1456..1476; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1792..1812; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1841..1861; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1872..1892; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1905..1925; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1991..2011; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins