Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

ATP-binding cassette sub-family A member 12

Gene

ABCA12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable transporter involved in lipid homeostasis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1378 – 1385ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi2290 – 2297ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • apolipoprotein A-I receptor binding Source: BHF-UCL
  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATP binding Source: UniProtKB
  • lipid transporter activity Source: BHF-UCL
  • lipid-transporting ATPase activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

GO - Biological processi

  • cellular homeostasis Source: UniProtKB
  • ceramide transport Source: Ensembl
  • establishment of skin barrier Source: Ensembl
  • keratinization Source: Ensembl
  • lipid homeostasis Source: Ensembl
  • lipid transport Source: UniProtKB
  • lung alveolus development Source: Ensembl
  • phospholipid efflux Source: BHF-UCL
  • positive regulation of cholesterol efflux Source: BHF-UCL
  • positive regulation of protein localization to cell surface Source: Ensembl
  • protein localization to plasma membrane Source: BHF-UCL
  • regulated exocytosis Source: BHF-UCL
  • secretion by cell Source: BHF-UCL
  • surfactant homeostasis Source: Ensembl
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Protein family/group databases

TCDBi3.A.1.211.13. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 12
Alternative name(s):
ATP-binding cassette transporter 12
Short name:
ATP-binding cassette 12
Gene namesi
Name:ABCA12
Synonyms:ABC12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:14637. ABCA12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Transmembranei1112 – 1132HelicalSequence analysisAdd BLAST21
Transmembranei1145 – 1165HelicalSequence analysisAdd BLAST21
Transmembranei1174 – 1194HelicalSequence analysisAdd BLAST21
Transmembranei1200 – 1220HelicalSequence analysisAdd BLAST21
Transmembranei1250 – 1270HelicalSequence analysisAdd BLAST21
Transmembranei1747 – 1767HelicalSequence analysisAdd BLAST21
Transmembranei1979 – 1999HelicalSequence analysisAdd BLAST21
Transmembranei2035 – 2055HelicalSequence analysisAdd BLAST21
Transmembranei2072 – 2092HelicalSequence analysisAdd BLAST21
Transmembranei2103 – 2123HelicalSequence analysisAdd BLAST21
Transmembranei2187 – 2207HelicalSequence analysisAdd BLAST21
Transmembranei2270 – 2290HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytoplasm Source: BHF-UCL
  • cytosol Source: Ensembl
  • epidermal lamellar body Source: BHF-UCL
  • integral component of membrane Source: UniProtKB
  • mitochondrial inner membrane Source: Ensembl
  • plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:601277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067075345T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0670771136G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0670791235W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0195981380N → S in ARCI4A. 1 PublicationCorresponds to variant rs28940269dbSNPEnsembl.1
Natural variantiVAR_0195991381G → E in ARCI4A. 1 PublicationCorresponds to variant rs28940268dbSNPEnsembl.1
Natural variantiVAR_0670801494I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0196001514R → H in ARCI4A. 2 PublicationsCorresponds to variant rs28940270dbSNPEnsembl.1
Natural variantiVAR_0196011539E → K in ARCI4A. 1 PublicationCorresponds to variant rs28940271dbSNPEnsembl.1
Natural variantiVAR_0670811559G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0196021651G → S in ARCI4A. 1 PublicationCorresponds to variant rs28940568dbSNPEnsembl.1
Natural variantiVAR_0670821798P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs181314573dbSNPEnsembl.1
Natural variantiVAR_0670831980T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma.
See also OMIM:242500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067076387S → N in ARCI4B. 1 PublicationCorresponds to variant rs746315995dbSNPEnsembl.1
Natural variantiVAR_0670781179G → R in ARCI4B. 1 PublicationCorresponds to variant rs267606622dbSNPEnsembl.1
Natural variantiVAR_0274492365D → N in ARCI4B. 1 PublicationCorresponds to variant rs726070dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi26154.
MalaCardsiABCA12.
MIMi242500. phenotype.
601277. phenotype.
OpenTargetsiENSG00000144452.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
457. Harlequin ichthyosis.
313. Lamellar ichthyosis.
PharmGKBiPA29604.

Polymorphism and mutation databases

BioMutaiABCA12.
DMDMi269849713.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933001 – 2595ATP-binding cassette sub-family A member 12Add BLAST2595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi156N-linked (GlcNAc...)Sequence analysis1
Glycosylationi174N-linked (GlcNAc...)Sequence analysis1
Glycosylationi214N-linked (GlcNAc...)Sequence analysis1
Glycosylationi275N-linked (GlcNAc...)Sequence analysis1
Glycosylationi333N-linked (GlcNAc...)Sequence analysis1
Glycosylationi367N-linked (GlcNAc...)Sequence analysis1
Glycosylationi383N-linked (GlcNAc...)Sequence analysis1
Glycosylationi412N-linked (GlcNAc...)Sequence analysis1
Glycosylationi435N-linked (GlcNAc...)Sequence analysis1
Glycosylationi528N-linked (GlcNAc...)Sequence analysis1
Glycosylationi543N-linked (GlcNAc...)Sequence analysis1
Glycosylationi577N-linked (GlcNAc...)Sequence analysis1
Glycosylationi608N-linked (GlcNAc...)Sequence analysis1
Glycosylationi623N-linked (GlcNAc...)Sequence analysis1
Glycosylationi648N-linked (GlcNAc...)Sequence analysis1
Glycosylationi752N-linked (GlcNAc...)Sequence analysis1
Glycosylationi826N-linked (GlcNAc...)Sequence analysis1
Glycosylationi920N-linked (GlcNAc...)Sequence analysis1
Glycosylationi963N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1170N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1524N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1663N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1704N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1769N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1819N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1835N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1876N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1921N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1952N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2178N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2208N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2223N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2318N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2542N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2547N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ86UK0.
PaxDbiQ86UK0.
PeptideAtlasiQ86UK0.
PRIDEiQ86UK0.

PTM databases

iPTMnetiQ86UK0.
PhosphoSitePlusiQ86UK0.

Expressioni

Tissue specificityi

Mainly expressed in the stomach, placenta, testis and fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000144452.
CleanExiHS_ABCA12.
ExpressionAtlasiQ86UK0. baseline and differential.
GenevisibleiQ86UK0. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ABCA1O954774EBI-9541582,EBI-784112

GO - Molecular functioni

  • apolipoprotein A-I receptor binding Source: BHF-UCL
  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

IntActiQ86UK0. 2 interactors.
STRINGi9606.ENSP00000272895.

Structurei

3D structure databases

ProteinModelPortaliQ86UK0.
SMRiQ86UK0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1346 – 1577ABC transporter 1PROSITE-ProRule annotationAdd BLAST232
Domaini2254 – 2489ABC transporter 2PROSITE-ProRule annotationAdd BLAST236

Domaini

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.By similarity

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000168538.
HOVERGENiHBG080807.
InParanoidiQ86UK0.
KOiK05646.
OMAiNYSPPHR.
OrthoDBiEOG091G007E.
PhylomeDBiQ86UK0.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030371. ABCA12.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 3 hits.
PTHR19229:SF29. PTHR19229:SF29. 3 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q86UK0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT
60 70 80 90 100
AKPTCYLAPR NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD
110 120 130 140 150
ALFKDSEILR KSSNLDKDSS LSFQSTQVPE RRHASLATVF PSPSSDLEIP
160 170 180 190 200
GTYTFNGSQV LARILGLEKL LKQNSTSEDI RRELCDSYSG YIVDDAFSWT
210 220 230 240 250
FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK IVFQEIVRML
260 270 280 290 300
SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY
310 320 330 340 350
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS
360 370 380 390 400
LAAQLLILEN FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ
410 420 430 440 450
STIRFKKSFL RNGSYEDYFP PVPEVLKSKL SQLRNLTELL CESETFSLIE
460 470 480 490 500
KSCQLSDMSF GSLCEESEFD LQLLEAAELG TEIAASLLYH DNVISKKVRD
510 520 530 540 550
LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML HVNNSADASE
560 570 580 590 600
KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF
610 620 630 640 650
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT
660 670 680 690 700
YKVFFPRKDQ KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP
710 720 730 740 750
RSVPLTQAMY RSNRMNTPQG SFSTISQALC SQGITTEYLT AMLPSSQRPK
760 770 780 790 800
GNHTKDFLTY KLTKEQIASK YGIPINSTPF CFSLYKDIIN MPAGPVIWAF
810 820 830 840 850
LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ EWMDKSPLFM
860 870 880 890 900
NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK
910 920 930 940 950
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN
960 970 980 990 1000
ELFGSVIFKL PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT
1010 1020 1030 1040 1050
KIWAPGPHNS PSHNQIYGRA FIYLQDSIER AIIELQTGRN SQEIAVQVQA
1060 1070 1080 1090 1100
IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF IAAFVKKLVY EKDLRLHEYM
1110 1120 1130 1140 1150
KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP KTNGFILFLY
1160 1170 1180 1190 1200
FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL
1210 1220 1230 1240 1250
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF
1260 1270 1280 1290 1300
GWLCCLILAD SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC
1310 1320 1330 1340 1350
AEVKPEKSNG LMFTNIMMQN TNPSASPEYM FSSNIEPEPK DLTVGVALHG
1360 1370 1380 1390 1400
VTKIYGSKVA VDNLNLNFYE GHITSLLGPN GAGKTTTISM LTGLFGASAG
1410 1420 1430 1440 1450
TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL LYGSIKVPHW
1460 1470 1480 1490 1500
TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV
1510 1520 1530 1540 1550
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL
1560 1570 1580 1590 1600
EQGGLRCCGS PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ
1610 1620 1630 1640 1650
SHLPEAYLKE DIGGELVYVL PPFSTKVSGA YLSLLRALDN GMGDLNIGCY
1660 1670 1680 1690 1700
GISDTTVEEV FLNLTKESQK NSAMSLEHLT QKKIGNSNAN GISTPDDLSV
1710 1720 1730 1740 1750
SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT RRNWKGLIAQ
1760 1770 1780 1790 1800
VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST
1810 1820 1830 1840 1850
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS
1860 1870 1880 1890 1900
ENVQECPKFN YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG
1910 1920 1930 1940 1950
WSFGLPLTKD LRFDITGVPA NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR
1960 1970 1980 1990 2000
VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT ISSLIDILVA LSILMGYSVT
2010 2020 2030 2040 2050
TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV FYLVPVAFSI
2060 2070 2080 2090 2100
GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI
2110 2120 2130 2140 2150
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF
2160 2170 2180 2190 2200
CFGYGLIELS QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF
2210 2220 2230 2240 2250
FSLRLLINES LIKKLRLFFR KFNSSHVRET IDEDEDVRAE RLRVESGAAE
2260 2270 2280 2290 2300
FDLVQLYCLT KTYQLIHKKI IAVNNISIGI PAGECFGLLG VNGAGKTTIF
2310 2320 2330 2340 2350
KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED ALDDLVTVEE
2360 2370 2380 2390 2400
HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST
2410 2420 2430 2440 2450
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME
2460 2470 2480 2490 2500
ECEALCTRLA IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL
2510 2520 2530 2540 2550
TKFMQLHFPK TYLKDQHLSM LEYHVPVTAG GVANIFDLLE TNKTALNITN
2560 2570 2580 2590
FLVSQTTLEE VFINFAKDQK SYETADTSSQ GSTISVDSQD DQMES
Length:2,595
Mass (Da):293,237
Last modified:November 24, 2009 - v3
Checksum:i5B71359B642BBAE6
GO
Isoform 2 (identifier: Q86UK0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     319-328: LLYTLDSPAQ → MFTYIKIITS

Note: No experimental confirmation available.
Show »
Length:2,277
Mass (Da):256,960
Checksum:i58CA49F7B23C51F2
GO

Sequence cautioni

The sequence AAN40735 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti651Y → D in AAP21093 (PubMed:12697999).Curated1
Sequence conflicti811Y → H in AAP21093 (PubMed:12697999).Curated1
Sequence conflicti826N → D in AAK54355 (Ref. 2) Curated1
Sequence conflicti2079Y → H in AAP21093 (PubMed:12697999).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055473199W → C.Corresponds to variant rs16853238dbSNPEnsembl.1
Natural variantiVAR_055474237N → H.Corresponds to variant rs11890512dbSNPEnsembl.1
Natural variantiVAR_055475274Q → R.Corresponds to variant rs11890468dbSNPEnsembl.1
Natural variantiVAR_055476287R → G.Corresponds to variant rs11891778dbSNPEnsembl.1
Natural variantiVAR_067075345T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_067076387S → N in ARCI4B. 1 PublicationCorresponds to variant rs746315995dbSNPEnsembl.1
Natural variantiVAR_019597459S → T.Corresponds to variant rs7560008dbSNPEnsembl.1
Natural variantiVAR_062663476A → V in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant rs370640837dbSNPEnsembl.1
Natural variantiVAR_027444550E → G.Corresponds to variant rs16853149dbSNPEnsembl.1
Natural variantiVAR_027445777S → T.3 PublicationsCorresponds to variant rs7560008dbSNPEnsembl.1
Natural variantiVAR_0670771136G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0670781179G → R in ARCI4B. 1 PublicationCorresponds to variant rs267606622dbSNPEnsembl.1
Natural variantiVAR_0670791235W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0274461251G → D.Corresponds to variant rs13414448dbSNPEnsembl.1
Natural variantiVAR_0195981380N → S in ARCI4A. 1 PublicationCorresponds to variant rs28940269dbSNPEnsembl.1
Natural variantiVAR_0195991381G → E in ARCI4A. 1 PublicationCorresponds to variant rs28940268dbSNPEnsembl.1
Natural variantiVAR_0670801494I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0196001514R → H in ARCI4A. 2 PublicationsCorresponds to variant rs28940270dbSNPEnsembl.1
Natural variantiVAR_0196011539E → K in ARCI4A. 1 PublicationCorresponds to variant rs28940271dbSNPEnsembl.1
Natural variantiVAR_0274471546R → C.Corresponds to variant rs13401480dbSNPEnsembl.1
Natural variantiVAR_0670811559G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0196021651G → S in ARCI4A. 1 PublicationCorresponds to variant rs28940568dbSNPEnsembl.1
Natural variantiVAR_0670821798P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs181314573dbSNPEnsembl.1
Natural variantiVAR_0670831980T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0274482064E → K.Corresponds to variant rs1213011dbSNPEnsembl.1
Natural variantiVAR_0274492365D → N in ARCI4B. 1 PublicationCorresponds to variant rs726070dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0112831 – 318Missing in isoform 2. 1 PublicationAdd BLAST318
Alternative sequenceiVSP_011284319 – 328LLYTLDSPAQ → MFTYIKIITS in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY219711 mRNA. Translation: AAP21093.1.
AY033486 mRNA. Translation: AAK54355.1.
AC072062 Genomic DNA. Translation: AAY24276.1.
AC114780 Genomic DNA. Translation: AAY24230.1.
AF418105 mRNA. Translation: AAN40735.1. Different initiation.
AL080207 mRNA. Translation: CAB45776.1.
CCDSiCCDS33372.1. [Q86UK0-1]
CCDS33373.1. [Q86UK0-2]
PIRiT12512.
RefSeqiNP_056472.2. NM_015657.3. [Q86UK0-2]
NP_775099.2. NM_173076.2. [Q86UK0-1]
UniGeneiHs.134585.

Genome annotation databases

EnsembliENST00000272895; ENSP00000272895; ENSG00000144452. [Q86UK0-1]
ENST00000389661; ENSP00000374312; ENSG00000144452. [Q86UK0-2]
GeneIDi26154.
KEGGihsa:26154.
UCSCiuc002vev.4. human. [Q86UK0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY219711 mRNA. Translation: AAP21093.1.
AY033486 mRNA. Translation: AAK54355.1.
AC072062 Genomic DNA. Translation: AAY24276.1.
AC114780 Genomic DNA. Translation: AAY24230.1.
AF418105 mRNA. Translation: AAN40735.1. Different initiation.
AL080207 mRNA. Translation: CAB45776.1.
CCDSiCCDS33372.1. [Q86UK0-1]
CCDS33373.1. [Q86UK0-2]
PIRiT12512.
RefSeqiNP_056472.2. NM_015657.3. [Q86UK0-2]
NP_775099.2. NM_173076.2. [Q86UK0-1]
UniGeneiHs.134585.

3D structure databases

ProteinModelPortaliQ86UK0.
SMRiQ86UK0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ86UK0. 2 interactors.
STRINGi9606.ENSP00000272895.

Protein family/group databases

TCDBi3.A.1.211.13. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiQ86UK0.
PhosphoSitePlusiQ86UK0.

Polymorphism and mutation databases

BioMutaiABCA12.
DMDMi269849713.

Proteomic databases

EPDiQ86UK0.
PaxDbiQ86UK0.
PeptideAtlasiQ86UK0.
PRIDEiQ86UK0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272895; ENSP00000272895; ENSG00000144452. [Q86UK0-1]
ENST00000389661; ENSP00000374312; ENSG00000144452. [Q86UK0-2]
GeneIDi26154.
KEGGihsa:26154.
UCSCiuc002vev.4. human. [Q86UK0-1]

Organism-specific databases

CTDi26154.
DisGeNETi26154.
GeneCardsiABCA12.
GeneReviewsiABCA12.
HGNCiHGNC:14637. ABCA12.
MalaCardsiABCA12.
MIMi242500. phenotype.
601277. phenotype.
607800. gene.
neXtProtiNX_Q86UK0.
OpenTargetsiENSG00000144452.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
457. Harlequin ichthyosis.
313. Lamellar ichthyosis.
PharmGKBiPA29604.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000168538.
HOVERGENiHBG080807.
InParanoidiQ86UK0.
KOiK05646.
OMAiNYSPPHR.
OrthoDBiEOG091G007E.
PhylomeDBiQ86UK0.
TreeFamiTF105191.

Enzyme and pathway databases

ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Miscellaneous databases

GeneWikiiABCA12.
GenomeRNAii26154.
PROiQ86UK0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144452.
CleanExiHS_ABCA12.
ExpressionAtlasiQ86UK0. baseline and differential.
GenevisibleiQ86UK0. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030371. ABCA12.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 3 hits.
PTHR19229:SF29. PTHR19229:SF29. 3 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCAC_HUMAN
AccessioniPrimary (citable) accession number: Q86UK0
Secondary accession number(s): Q53QE2
, Q53S55, Q8IZW6, Q96JT3, Q9Y4M5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 24, 2009
Last modified: November 30, 2016
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.