Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q86UK0

- ABCAC_HUMAN

UniProt

Q86UK0 - ABCAC_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 3 (24 Nov 2009)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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. 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

    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

    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

    ArrayExpressiQ86UK0.
    BgeeiQ86UK0.
    CleanExiHS_ABCA12.
    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.
    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.

    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.
    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

    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 1, 2014
    This is version 116 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