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Q86UK0

- ABCAC_HUMAN

UniProt

Q86UK0 - ABCAC_HUMAN

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Protein

ATP-binding cassette sub-family A member 12

Gene

ABCA12

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

Functioni

Probable transporter involved in lipid homeostasis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1378 – 13858ATP 1PROSITE-ProRule annotation
Nucleotide bindingi2290 – 22978ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. apolipoprotein A-I receptor binding Source: BHF-UCL
  2. ATP binding Source: UniProtKB
  3. lipid transporter activity Source: BHF-UCL
  4. lipid-transporting ATPase activity Source: BHF-UCL
  5. receptor binding Source: BHF-UCL

GO - Biological processi

  1. cellular homeostasis Source: UniProtKB
  2. ceramide transport Source: Ensembl
  3. establishment of skin barrier Source: Ensembl
  4. keratinization Source: Ensembl
  5. lipid homeostasis Source: Ensembl
  6. lipid transport Source: UniProtKB
  7. lung alveolus development Source: Ensembl
  8. phospholipid efflux Source: BHF-UCL
  9. positive regulation of cholesterol efflux Source: BHF-UCL
  10. positive regulation of protein localization to cell surface Source: Ensembl
  11. protein localization to plasma membrane Source: BHF-UCL
  12. regulated secretory pathway Source: BHF-UCL
  13. secretion by cell Source: BHF-UCL
  14. surfactant homeostasis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA 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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:14637. ABCA12.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. cytosol Source: Ensembl
  3. epidermal lamellar body Source: BHF-UCL
  4. integral component of membrane Source: UniProtKB
  5. mitochondrial inner membrane Source: Ensembl
  6. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]: A 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti345 – 3451T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067075
Natural varianti1136 – 11361G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067077
Natural varianti1235 – 12351W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067079
Natural varianti1380 – 13801N → S in ARCI4A. 1 Publication
Corresponds to variant rs28940269 [ dbSNP | Ensembl ].
VAR_019598
Natural varianti1381 – 13811G → E in ARCI4A. 1 Publication
Corresponds to variant rs28940268 [ dbSNP | Ensembl ].
VAR_019599
Natural varianti1494 – 14941I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067080
Natural varianti1514 – 15141R → H in ARCI4A. 2 Publications
Corresponds to variant rs28940270 [ dbSNP | Ensembl ].
VAR_019600
Natural varianti1539 – 15391E → K in ARCI4A. 1 Publication
Corresponds to variant rs28940271 [ dbSNP | Ensembl ].
VAR_019601
Natural varianti1559 – 15591G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067081
Natural varianti1651 – 16511G → S in ARCI4A. 1 Publication
Corresponds to variant rs28940568 [ dbSNP | Ensembl ].
VAR_019602
Natural varianti1798 – 17981P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067082
Natural varianti1980 – 19801T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067083
Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti387 – 3871S → N in ARCI4B. 1 Publication
VAR_067076
Natural varianti1179 – 11791G → R in ARCI4B. 1 Publication
VAR_067078
Natural varianti2365 – 23651D → N in ARCI4B. 1 Publication
Corresponds to variant rs726070 [ dbSNP | Ensembl ].
VAR_027449

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 25952595ATP-binding cassette sub-family A member 12PRO_0000093300Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi275 – 2751N-linked (GlcNAc...)Sequence Analysis
Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi367 – 3671N-linked (GlcNAc...)Sequence Analysis
Glycosylationi383 – 3831N-linked (GlcNAc...)Sequence Analysis
Glycosylationi412 – 4121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi435 – 4351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi528 – 5281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi543 – 5431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi577 – 5771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi608 – 6081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi623 – 6231N-linked (GlcNAc...)Sequence Analysis
Glycosylationi648 – 6481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi752 – 7521N-linked (GlcNAc...)Sequence Analysis
Glycosylationi826 – 8261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi920 – 9201N-linked (GlcNAc...)Sequence Analysis
Glycosylationi963 – 9631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1170 – 11701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1524 – 15241N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1663 – 16631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1704 – 17041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1769 – 17691N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1819 – 18191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1835 – 18351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1876 – 18761N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1921 – 19211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1952 – 19521N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2178 – 21781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2208 – 22081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2223 – 22231N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2318 – 23181N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2542 – 25421N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2547 – 25471N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ86UK0.
PaxDbiQ86UK0.
PRIDEiQ86UK0.

PTM databases

PhosphoSiteiQ86UK0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ86UK0.
CleanExiHS_ABCA12.
ExpressionAtlasiQ86UK0. baseline and differential.
GenevestigatoriQ86UK0.

Organism-specific databases

HPAiHPA043194.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi117585. 1 interaction.
IntActiQ86UK0. 2 interactions.
STRINGi9606.ENSP00000272895.

Structurei

3D structure databases

ProteinModelPortaliQ86UK0.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321HelicalSequence AnalysisAdd
BLAST
Transmembranei1065 – 108521HelicalSequence AnalysisAdd
BLAST
Transmembranei1112 – 113221HelicalSequence AnalysisAdd
BLAST
Transmembranei1145 – 116521HelicalSequence AnalysisAdd
BLAST
Transmembranei1174 – 119421HelicalSequence AnalysisAdd
BLAST
Transmembranei1200 – 122021HelicalSequence AnalysisAdd
BLAST
Transmembranei1250 – 127021HelicalSequence AnalysisAdd
BLAST
Transmembranei1747 – 176721HelicalSequence AnalysisAdd
BLAST
Transmembranei1979 – 199921HelicalSequence AnalysisAdd
BLAST
Transmembranei2035 – 205521HelicalSequence AnalysisAdd
BLAST
Transmembranei2072 – 209221HelicalSequence AnalysisAdd
BLAST
Transmembranei2103 – 212321HelicalSequence AnalysisAdd
BLAST
Transmembranei2187 – 220721HelicalSequence AnalysisAdd
BLAST
Transmembranei2270 – 229021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1346 – 1577232ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini2254 – 2489236ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiCOG1131.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000168538.
HOVERGENiHBG080807.
InParanoidiQ86UK0.
KOiK05646.
OMAiGMAAPWY.
OrthoDBiEOG78D7J6.
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.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
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. Align

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 AAN40735.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti651 – 6511Y → D in AAP21093. (PubMed:12697999)Curated
Sequence conflicti811 – 8111Y → H in AAP21093. (PubMed:12697999)Curated
Sequence conflicti826 – 8261N → D in AAK54355. 1 PublicationCurated
Sequence conflicti2079 – 20791Y → H in AAP21093. (PubMed:12697999)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti199 – 1991W → C.
Corresponds to variant rs16853238 [ dbSNP | Ensembl ].
VAR_055473
Natural varianti237 – 2371N → H.
Corresponds to variant rs11890512 [ dbSNP | Ensembl ].
VAR_055474
Natural varianti274 – 2741Q → R.
Corresponds to variant rs11890468 [ dbSNP | Ensembl ].
VAR_055475
Natural varianti287 – 2871R → G.
Corresponds to variant rs11891778 [ dbSNP | Ensembl ].
VAR_055476
Natural varianti345 – 3451T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067075
Natural varianti387 – 3871S → N in ARCI4B. 1 Publication
VAR_067076
Natural varianti459 – 4591S → T.
Corresponds to variant rs7560008 [ dbSNP | Ensembl ].
VAR_019597
Natural varianti476 – 4761A → V in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_062663
Natural varianti550 – 5501E → G.
Corresponds to variant rs16853149 [ dbSNP | Ensembl ].
VAR_027444
Natural varianti777 – 7771S → T.3 Publications
Corresponds to variant rs7560008 [ dbSNP | Ensembl ].
VAR_027445
Natural varianti1136 – 11361G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067077
Natural varianti1179 – 11791G → R in ARCI4B. 1 Publication
VAR_067078
Natural varianti1235 – 12351W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067079
Natural varianti1251 – 12511G → D.
Corresponds to variant rs13414448 [ dbSNP | Ensembl ].
VAR_027446
Natural varianti1380 – 13801N → S in ARCI4A. 1 Publication
Corresponds to variant rs28940269 [ dbSNP | Ensembl ].
VAR_019598
Natural varianti1381 – 13811G → E in ARCI4A. 1 Publication
Corresponds to variant rs28940268 [ dbSNP | Ensembl ].
VAR_019599
Natural varianti1494 – 14941I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067080
Natural varianti1514 – 15141R → H in ARCI4A. 2 Publications
Corresponds to variant rs28940270 [ dbSNP | Ensembl ].
VAR_019600
Natural varianti1539 – 15391E → K in ARCI4A. 1 Publication
Corresponds to variant rs28940271 [ dbSNP | Ensembl ].
VAR_019601
Natural varianti1546 – 15461R → C.
Corresponds to variant rs13401480 [ dbSNP | Ensembl ].
VAR_027447
Natural varianti1559 – 15591G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067081
Natural varianti1651 – 16511G → S in ARCI4A. 1 Publication
Corresponds to variant rs28940568 [ dbSNP | Ensembl ].
VAR_019602
Natural varianti1798 – 17981P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067082
Natural varianti1980 – 19801T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_067083
Natural varianti2064 – 20641E → K.
Corresponds to variant rs1213011 [ dbSNP | Ensembl ].
VAR_027448
Natural varianti2365 – 23651D → N in ARCI4B. 1 Publication
Corresponds to variant rs726070 [ dbSNP | Ensembl ].
VAR_027449

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 318318Missing in isoform 2. 1 PublicationVSP_011283Add
BLAST
Alternative sequencei319 – 32810LLYTLDSPAQ → MFTYIKIITS in isoform 2. 1 PublicationVSP_011284

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q86UK0-2]
uc002vew.3. human. [Q86UK0-1]

Polymorphism databases

DMDMi269849713.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33372.1. [Q86UK0-1 ]
CCDS33373.1. [Q86UK0-2 ]
PIRi T12512.
RefSeqi NP_056472.2. NM_015657.3. [Q86UK0-2 ]
NP_775099.2. NM_173076.2. [Q86UK0-1 ]
UniGenei Hs.134585.

3D structure databases

ProteinModelPortali Q86UK0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117585. 1 interaction.
IntActi Q86UK0. 2 interactions.
STRINGi 9606.ENSP00000272895.

Protein family/group databases

TCDBi 3.A.1.211.13. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q86UK0.

Polymorphism databases

DMDMi 269849713.

Proteomic databases

MaxQBi Q86UK0.
PaxDbi Q86UK0.
PRIDEi Q86UK0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000272895 ; ENSP00000272895 ; ENSG00000144452 . [Q86UK0-1 ]
ENST00000389661 ; ENSP00000374312 ; ENSG00000144452 . [Q86UK0-2 ]
GeneIDi 26154.
KEGGi hsa:26154.
UCSCi uc002vev.3. human. [Q86UK0-2 ]
uc002vew.3. human. [Q86UK0-1 ]

Organism-specific databases

CTDi 26154.
GeneCardsi GC02M215796.
GeneReviewsi ABCA12.
HGNCi HGNC:14637. ABCA12.
HPAi HPA043194.
MIMi 242500. phenotype.
601277. phenotype.
607800. gene.
neXtProti NX_Q86UK0.
Orphaneti 79394. Congenital non-bullous ichthyosiform erythroderma.
457. Harlequin ichthyosis.
313. Lamellar ichthyosis.
PharmGKBi PA29604.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00760000118965.
HOGENOMi HOG000168538.
HOVERGENi HBG080807.
InParanoidi Q86UK0.
KOi K05646.
OMAi GMAAPWY.
OrthoDBi EOG78D7J6.
PhylomeDBi Q86UK0.
TreeFami TF105191.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

GeneWikii ABCA12.
GenomeRNAii 26154.
NextBioi 48241.
PROi Q86UK0.
SOURCEi Search...

Gene expression databases

Bgeei Q86UK0.
CleanExi HS_ABCA12.
ExpressionAtlasi Q86UK0. baseline and differential.
Genevestigatori Q86UK0.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34."
    Annilo T., Shulemin S., Chen Z.Q., Arnould I., Prades C., Lemoine C., Maintoux-Larois C., Devaud C., Dean M., Denefle P., Rosier M.
    Cytogenet. Genome Res. 98:169-176(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT THR-777.
    Tissue: Placenta.
  2. "A retinal cDNA for the ATP-binding cassette transporter ABCA12."
    Bonner T.I., Moses T., Detera-Wadleigh S.
    Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT THR-777.
    Tissue: Retina.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Cloning of a novel ABC transporter (ABCA12) tentatively involved in lipid homeostatis."
    Schaap F.G., van Wijland M., Groen A.K.
    Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 221-2595, VARIANT THR-777.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2400-2595.
    Tissue: Testis.
  6. "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."
    Akiyama M.
    Hum. Mutat. 31:1090-1096(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS, INVOLVEMENT IN ARCI.
  7. Cited for: VARIANTS ARCI4A SER-1380; GLU-1381; HIS-1514; LYS-1539 AND SER-1651.
  8. Cited for: VARIANT ARCI4B ASN-2365.
  9. "Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity."
    Akiyama M., Sakai K., Sugiyama-Nakagiri Y., Yamanaka Y., McMillan J.R., Sawamura D., Niizeki H., Miyagawa S., Shimizu H.
    J. Invest. Dermatol. 126:1518-1523(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCI4B ASN-387.
  10. Cited for: VARIANT ARCI4B ARG-1179.
  11. "Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia."
    Natsuga K., Akiyama M., Kato N., Sakai K., Sugiyama-Nakagiri Y., Nishimura M., Hata H., Abe M., Arita K., Tsuji-Abe Y., Onozuka T., Aoyagi S., Kodama K., Ujiie H., Tomita Y., Shimizu H.
    J. Invest. Dermatol. 127:2669-2673(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCI4A PRO-345 AND THR-1494.
  12. "Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma."
    Akiyama M., Sakai K., Hatamochi A., Yamazaki S., McMillan J.R., Shimizu H.
    Br. J. Dermatol. 158:864-867(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCI4A ASP-1136.
  13. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-476.
  14. Cited for: VARIANTS ARCI4A SER-1235; HIS-1514; LEU-1798 AND LYS-1980.
  15. "Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12."
    Nawaz S., Tariq M., Ahmad I., Malik N.A., Baig S.M., Dahl N., Klar J.
    Eur. J. Dermatol. 22:178-181(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCI4A VAL-1559.

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: October 29, 2014
This is version 117 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

External Data

Dasty 3