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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, ABC12
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 1 Reviewed prediction
Nucleotide bindingi2290 – 22978ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. apolipoprotein A-I receptor binding Source: BHF-UCL
  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. protein localization to plasma membrane Source: BHF-UCL
  11. regulated secretory pathway Source: BHF-UCL
  12. secretion by cell Source: BHF-UCL
  13. 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

Topology

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 12
PRO_0000093300Add
BLAST

Amino acid modifications

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

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

ArrayExpressiQ86UK0.
BgeeiQ86UK0.
CleanExiHS_ABCA12.
GenevestigatoriQ86UK0.

Organism-specific databases

HPAiHPA043194.

Interactioni

Protein-protein interaction databases

BioGridi117585. 1 interaction.
STRINGi9606.ENSP00000272895.

Structurei

3D structure databases

ProteinModelPortaliQ86UK0.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1346 – 1577232ABC transporter 1
Add
BLAST
Domaini2254 – 2489236ABC transporter 2
Add
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
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

MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT     50
AKPTCYLAPR NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD 100
ALFKDSEILR KSSNLDKDSS LSFQSTQVPE RRHASLATVF PSPSSDLEIP 150
GTYTFNGSQV LARILGLEKL LKQNSTSEDI RRELCDSYSG YIVDDAFSWT 200
FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK IVFQEIVRML 250
SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY 300
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS 350
LAAQLLILEN FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ 400
STIRFKKSFL RNGSYEDYFP PVPEVLKSKL SQLRNLTELL CESETFSLIE 450
KSCQLSDMSF GSLCEESEFD LQLLEAAELG TEIAASLLYH DNVISKKVRD 500
LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML HVNNSADASE 550
KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF 600
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT 650
YKVFFPRKDQ KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP 700
RSVPLTQAMY RSNRMNTPQG SFSTISQALC SQGITTEYLT AMLPSSQRPK 750
GNHTKDFLTY KLTKEQIASK YGIPINSTPF CFSLYKDIIN MPAGPVIWAF 800
LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ EWMDKSPLFM 850
NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK 900
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN 950
ELFGSVIFKL PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT 1000
KIWAPGPHNS PSHNQIYGRA FIYLQDSIER AIIELQTGRN SQEIAVQVQA 1050
IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF IAAFVKKLVY EKDLRLHEYM 1100
KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP KTNGFILFLY 1150
FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL 1200
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF 1250
GWLCCLILAD SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC 1300
AEVKPEKSNG LMFTNIMMQN TNPSASPEYM FSSNIEPEPK DLTVGVALHG 1350
VTKIYGSKVA VDNLNLNFYE GHITSLLGPN GAGKTTTISM LTGLFGASAG 1400
TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL LYGSIKVPHW 1450
TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV 1500
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL 1550
EQGGLRCCGS PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ 1600
SHLPEAYLKE DIGGELVYVL PPFSTKVSGA YLSLLRALDN GMGDLNIGCY 1650
GISDTTVEEV FLNLTKESQK NSAMSLEHLT QKKIGNSNAN GISTPDDLSV 1700
SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT RRNWKGLIAQ 1750
VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST 1800
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS 1850
ENVQECPKFN YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG 1900
WSFGLPLTKD LRFDITGVPA NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR 1950
VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT ISSLIDILVA LSILMGYSVT 2000
TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV FYLVPVAFSI 2050
GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI 2100
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF 2150
CFGYGLIELS QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF 2200
FSLRLLINES LIKKLRLFFR KFNSSHVRET IDEDEDVRAE RLRVESGAAE 2250
FDLVQLYCLT KTYQLIHKKI IAVNNISIGI PAGECFGLLG VNGAGKTTIF 2300
KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED ALDDLVTVEE 2350
HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST 2400
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME 2450
ECEALCTRLA IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL 2500
TKFMQLHFPK TYLKDQHLSM LEYHVPVTAG GVANIFDLLE TNKTALNITN 2550
FLVSQTTLEE VFINFAKDQK SYETADTSSQ GSTISVDSQD DQMES 2595
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.

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.
VSP_011283Add
BLAST
Alternative sequencei319 – 32810LLYTLDSPAQ → MFTYIKIITS in isoform 2.
VSP_011284

Sequence conflict

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

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.
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.
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

ArrayExpressi Q86UK0.
Bgeei Q86UK0.
CleanExi HS_ABCA12.
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: September 3, 2014
This is version 115 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

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