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Q86UK0 (ABCAC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 12
Alternative name(s):
ATP-binding cassette transporter 12
Short name=ATP-binding cassette 12
Gene names
Name:ABCA12
Synonyms:ABC12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2595 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable transporter involved in lipid homeostasis.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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

Domain

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

Involvement in disease

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. Ref.7 Ref.11 Ref.12 Ref.14 Ref.15

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. Ref.8 Ref.9 Ref.10

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q86UK0-1)

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.
Isoform 2 (identifier: Q86UK0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     319-328: LLYTLDSPAQ → MFTYIKIITS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 25952595ATP-binding cassette sub-family A member 12
PRO_0000093300

Regions

Transmembrane23 – 4321Helical; Potential
Transmembrane1065 – 108521Helical; Potential
Transmembrane1112 – 113221Helical; Potential
Transmembrane1145 – 116521Helical; Potential
Transmembrane1174 – 119421Helical; Potential
Transmembrane1200 – 122021Helical; Potential
Transmembrane1250 – 127021Helical; Potential
Transmembrane1747 – 176721Helical; Potential
Transmembrane1979 – 199921Helical; Potential
Transmembrane2035 – 205521Helical; Potential
Transmembrane2072 – 209221Helical; Potential
Transmembrane2103 – 212321Helical; Potential
Transmembrane2187 – 220721Helical; Potential
Transmembrane2270 – 229021Helical; Potential
Domain1346 – 1577232ABC transporter 1
Domain2254 – 2489236ABC transporter 2
Nucleotide binding1378 – 13858ATP 1 Potential
Nucleotide binding2290 – 22978ATP 2 Potential

Amino acid modifications

Glycosylation1561N-linked (GlcNAc...) Potential
Glycosylation1741N-linked (GlcNAc...) Potential
Glycosylation2141N-linked (GlcNAc...) Potential
Glycosylation2751N-linked (GlcNAc...) Potential
Glycosylation3331N-linked (GlcNAc...) Potential
Glycosylation3671N-linked (GlcNAc...) Potential
Glycosylation3831N-linked (GlcNAc...) Potential
Glycosylation4121N-linked (GlcNAc...) Potential
Glycosylation4351N-linked (GlcNAc...) Potential
Glycosylation5281N-linked (GlcNAc...) Potential
Glycosylation5431N-linked (GlcNAc...) Potential
Glycosylation5771N-linked (GlcNAc...) Potential
Glycosylation6081N-linked (GlcNAc...) Potential
Glycosylation6231N-linked (GlcNAc...) Potential
Glycosylation6481N-linked (GlcNAc...) Potential
Glycosylation7521N-linked (GlcNAc...) Potential
Glycosylation8261N-linked (GlcNAc...) Potential
Glycosylation9201N-linked (GlcNAc...) Potential
Glycosylation9631N-linked (GlcNAc...) Potential
Glycosylation11701N-linked (GlcNAc...) Potential
Glycosylation15241N-linked (GlcNAc...) Potential
Glycosylation16631N-linked (GlcNAc...) Potential
Glycosylation17041N-linked (GlcNAc...) Potential
Glycosylation17691N-linked (GlcNAc...) Potential
Glycosylation18191N-linked (GlcNAc...) Potential
Glycosylation18351N-linked (GlcNAc...) Potential
Glycosylation18761N-linked (GlcNAc...) Potential
Glycosylation19211N-linked (GlcNAc...) Potential
Glycosylation19521N-linked (GlcNAc...) Potential
Glycosylation21781N-linked (GlcNAc...) Potential
Glycosylation22081N-linked (GlcNAc...) Potential
Glycosylation22231N-linked (GlcNAc...) Potential
Glycosylation23181N-linked (GlcNAc...) Potential
Glycosylation25421N-linked (GlcNAc...) Potential
Glycosylation25471N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 318318Missing in isoform 2.
VSP_011283
Alternative sequence319 – 32810LLYTLDSPAQ → MFTYIKIITS in isoform 2.
VSP_011284
Natural variant1991W → C.
Corresponds to variant rs16853238 [ dbSNP | Ensembl ].
VAR_055473
Natural variant2371N → H.
Corresponds to variant rs11890512 [ dbSNP | Ensembl ].
VAR_055474
Natural variant2741Q → R.
Corresponds to variant rs11890468 [ dbSNP | Ensembl ].
VAR_055475
Natural variant2871R → G.
Corresponds to variant rs11891778 [ dbSNP | Ensembl ].
VAR_055476
Natural variant3451T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.11
VAR_067075
Natural variant3871S → N in ARCI4B. Ref.9
VAR_067076
Natural variant4591S → T.
Corresponds to variant rs7560008 [ dbSNP | Ensembl ].
VAR_019597
Natural variant4761A → V in a pancreatic ductal adenocarcinoma sample; somatic mutation. Ref.13
VAR_062663
Natural variant5501E → G.
Corresponds to variant rs16853149 [ dbSNP | Ensembl ].
VAR_027444
Natural variant7771S → T. Ref.1 Ref.2 Ref.4
Corresponds to variant rs7560008 [ dbSNP | Ensembl ].
VAR_027445
Natural variant11361G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.12
VAR_067077
Natural variant11791G → R in ARCI4B. Ref.10
VAR_067078
Natural variant12351W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.14
VAR_067079
Natural variant12511G → D.
Corresponds to variant rs13414448 [ dbSNP | Ensembl ].
VAR_027446
Natural variant13801N → S in ARCI4A. Ref.7
Corresponds to variant rs28940269 [ dbSNP | Ensembl ].
VAR_019598
Natural variant13811G → E in ARCI4A. Ref.7
Corresponds to variant rs28940268 [ dbSNP | Ensembl ].
VAR_019599
Natural variant14941I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.11
VAR_067080
Natural variant15141R → H in ARCI4A. Ref.7 Ref.14
Corresponds to variant rs28940270 [ dbSNP | Ensembl ].
VAR_019600
Natural variant15391E → K in ARCI4A. Ref.7
Corresponds to variant rs28940271 [ dbSNP | Ensembl ].
VAR_019601
Natural variant15461R → C.
Corresponds to variant rs13401480 [ dbSNP | Ensembl ].
VAR_027447
Natural variant15591G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.15
VAR_067081
Natural variant16511G → S in ARCI4A. Ref.7
Corresponds to variant rs28940568 [ dbSNP | Ensembl ].
VAR_019602
Natural variant17981P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.14
VAR_067082
Natural variant19801T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. Ref.14
VAR_067083
Natural variant20641E → K.
Corresponds to variant rs1213011 [ dbSNP | Ensembl ].
VAR_027448
Natural variant23651D → N in ARCI4B. Ref.8
Corresponds to variant rs726070 [ dbSNP | Ensembl ].
VAR_027449

Experimental info

Sequence conflict6511Y → D in AAP21093. Ref.1
Sequence conflict8111Y → H in AAP21093. Ref.1
Sequence conflict8261N → D in AAK54355. Ref.2
Sequence conflict20791Y → H in AAP21093. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 3.
Checksum: 5B71359B642BBAE6

FASTA2,595293,237
        10         20         30         40         50         60 
MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT AKPTCYLAPR 

        70         80         90        100        110        120 
NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD ALFKDSEILR KSSNLDKDSS 

       130        140        150        160        170        180 
LSFQSTQVPE RRHASLATVF PSPSSDLEIP GTYTFNGSQV LARILGLEKL LKQNSTSEDI 

       190        200        210        220        230        240 
RRELCDSYSG YIVDDAFSWT FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK 

       250        260        270        280        290        300 
IVFQEIVRML SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY 

       310        320        330        340        350        360 
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS LAAQLLILEN 

       370        380        390        400        410        420 
FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ STIRFKKSFL RNGSYEDYFP 

       430        440        450        460        470        480 
PVPEVLKSKL SQLRNLTELL CESETFSLIE KSCQLSDMSF GSLCEESEFD LQLLEAAELG 

       490        500        510        520        530        540 
TEIAASLLYH DNVISKKVRD LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML 

       550        560        570        580        590        600 
HVNNSADASE KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF 

       610        620        630        640        650        660 
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT YKVFFPRKDQ 

       670        680        690        700        710        720 
KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP RSVPLTQAMY RSNRMNTPQG 

       730        740        750        760        770        780 
SFSTISQALC SQGITTEYLT AMLPSSQRPK GNHTKDFLTY KLTKEQIASK YGIPINSTPF 

       790        800        810        820        830        840 
CFSLYKDIIN MPAGPVIWAF LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ 

       850        860        870        880        890        900 
EWMDKSPLFM NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK 

       910        920        930        940        950        960 
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN ELFGSVIFKL 

       970        980        990       1000       1010       1020 
PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT KIWAPGPHNS PSHNQIYGRA 

      1030       1040       1050       1060       1070       1080 
FIYLQDSIER AIIELQTGRN SQEIAVQVQA IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF 

      1090       1100       1110       1120       1130       1140 
IAAFVKKLVY EKDLRLHEYM KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP 

      1150       1160       1170       1180       1190       1200 
KTNGFILFLY FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL 

      1210       1220       1230       1240       1250       1260 
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF GWLCCLILAD 

      1270       1280       1290       1300       1310       1320 
SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC AEVKPEKSNG LMFTNIMMQN 

      1330       1340       1350       1360       1370       1380 
TNPSASPEYM FSSNIEPEPK DLTVGVALHG VTKIYGSKVA VDNLNLNFYE GHITSLLGPN 

      1390       1400       1410       1420       1430       1440 
GAGKTTTISM LTGLFGASAG TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL 

      1450       1460       1470       1480       1490       1500 
LYGSIKVPHW TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV 

      1510       1520       1530       1540       1550       1560 
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL EQGGLRCCGS 

      1570       1580       1590       1600       1610       1620 
PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ SHLPEAYLKE DIGGELVYVL 

      1630       1640       1650       1660       1670       1680 
PPFSTKVSGA YLSLLRALDN GMGDLNIGCY GISDTTVEEV FLNLTKESQK NSAMSLEHLT 

      1690       1700       1710       1720       1730       1740 
QKKIGNSNAN GISTPDDLSV SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT 

      1750       1760       1770       1780       1790       1800 
RRNWKGLIAQ VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST 

      1810       1820       1830       1840       1850       1860 
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS ENVQECPKFN 

      1870       1880       1890       1900       1910       1920 
YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG WSFGLPLTKD LRFDITGVPA 

      1930       1940       1950       1960       1970       1980 
NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT 

      1990       2000       2010       2020       2030       2040 
ISSLIDILVA LSILMGYSVT TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV 

      2050       2060       2070       2080       2090       2100 
FYLVPVAFSI GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI 

      2110       2120       2130       2140       2150       2160 
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF CFGYGLIELS 

      2170       2180       2190       2200       2210       2220 
QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF FSLRLLINES LIKKLRLFFR 

      2230       2240       2250       2260       2270       2280 
KFNSSHVRET IDEDEDVRAE RLRVESGAAE FDLVQLYCLT KTYQLIHKKI IAVNNISIGI 

      2290       2300       2310       2320       2330       2340 
PAGECFGLLG VNGAGKTTIF KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED 

      2350       2360       2370       2380       2390       2400 
ALDDLVTVEE HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST 

      2410       2420       2430       2440       2450       2460 
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME ECEALCTRLA 

      2470       2480       2490       2500       2510       2520 
IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL TKFMQLHFPK TYLKDQHLSM 

      2530       2540       2550       2560       2570       2580 
LEYHVPVTAG GVANIFDLLE TNKTALNITN FLVSQTTLEE VFINFAKDQK SYETADTSSQ 

      2590 
GSTISVDSQD DQMES 

« Hide

Isoform 2 [UniParc].

Checksum: 58CA49F7B23C51F2
Show »

FASTA2,277256,960

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."
Lefevre C., Audebert S., Jobard F., Bouadjar B., Lakhdar H., Boughdene-Stambouli O., Blanchet-Bardon C., Heilig R., Foglio M., Weissenbach J., Lathrop M., Prud'homme J.F., Fischer J.
Hum. Mol. Genet. 12:2369-2378(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARCI4A SER-1380; GLU-1381; HIS-1514; LYS-1539 AND SER-1651.
[8]"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis."
Kelsell D.P., Norgett E.E., Unsworth H., Teh M.-T., Cullup T., Mein C.A., Dopping-Hepenstal P.J., Dale B.A., Tadini G., Fleckman P., Stephens K.G., Sybert V.P., Mallory S.B., North B.V., Witt D.R., Sprecher E., Taylor A.E.M., Ilchyshyn A. expand/collapse author list , Kennedy C.T., Goodyear H., Moss C., Paige D., Harper J.I., Young B.D., Leigh I.M., Eady R.A.J., O'Toole E.A.
Am. J. Hum. Genet. 76:794-803(2005) [PubMed] [Europe PMC] [Abstract]
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]"ABCA12 is the major harlequin ichthyosis gene."
Thomas A.C., Cullup T., Norgett E.E., Hill T., Barton S., Dale B.A., Sprecher E., Sheridan E., Taylor A.E., Wilroy R.S., DeLozier C., Burrows N., Goodyear H., Fleckman P., Stephens K.G., Mehta L., Watson R.M., Graham R. expand/collapse author list , Wolf R., Slavotinek A., Martin M., Bourn D., Mein C.A., O'Toole E.A., Kelsell D.P.
J. Invest. Dermatol. 126:2408-2413(2006) [PubMed] [Europe PMC] [Abstract]
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]"Core signaling pathways in human pancreatic cancers revealed by global genomic analyses."
Jones S., Zhang X., Parsons D.W., Lin J.C., Leary R.J., Angenendt P., Mankoo P., Carter H., Kamiyama H., Jimeno A., Hong S.M., Fu B., Lin M.T., Calhoun E.S., Kamiyama M., Walter K., Nikolskaya T., Nikolsky Y. expand/collapse author list , Hartigan J., Smith D.R., Hidalgo M., Leach S.D., Klein A.P., Jaffee E.M., Goggins M., Maitra A., Iacobuzio-Donahue C., Eshleman J.R., Kern S.E., Hruban R.H., Karchin R., Papadopoulos N., Parmigiani G., Vogelstein B., Velculescu V.E., Kinzler K.W.
Science 321:1801-1806(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-476.
[14]"ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."
Sakai K., Akiyama M., Yanagi T., McMillan J.R., Suzuki T., Tsukamoto K., Sugiyama H., Hatano Y., Hayashitani M., Takamori K., Nakashima K., Shimizu H.
J. Invest. Dermatol. 129:2306-2309(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

GeneReviews
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT12512.
RefSeqNP_056472.2. NM_015657.3.
NP_775099.2. NM_173076.2.
UniGeneHs.134585.

3D structure databases

ProteinModelPortalQ86UK0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117585. 1 interaction.
STRING9606.ENSP00000272895.

Protein family/group databases

TCDB3.A.1.211.13. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ86UK0.

Polymorphism databases

DMDM269849713.

Proteomic databases

PaxDbQ86UK0.
PRIDEQ86UK0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272895; ENSP00000272895; ENSG00000144452. [Q86UK0-1]
ENST00000389661; ENSP00000374312; ENSG00000144452. [Q86UK0-2]
GeneID26154.
KEGGhsa:26154.
UCSCuc002vev.3. human. [Q86UK0-2]
uc002vew.3. human. [Q86UK0-1]

Organism-specific databases

CTD26154.
GeneCardsGC02M215796.
HGNCHGNC:14637. ABCA12.
HPAHPA043194.
MIM242500. phenotype.
601277. phenotype.
607800. gene.
neXtProtNX_Q86UK0.
Orphanet79394. Congenital non-bullous ichthyosiform erythroderma.
457. Harlequin ichthyosis.
313. Lamellar ichthyosis.
PharmGKBPA29604.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000168538.
HOVERGENHBG080807.
InParanoidQ86UK0.
KOK05646.
OMAFFAWLIE.
OrthoDBEOG78D7J6.
PhylomeDBQ86UK0.
TreeFamTF105191.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ86UK0.
BgeeQ86UK0.
CleanExHS_ABCA12.
GenevestigatorQ86UK0.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCA12.
GenomeRNAi26154.
NextBio48241.
PROQ86UK0.
SOURCESearch...

Entry information

Entry nameABCAC_HUMAN
AccessionPrimary (citable) accession number: Q86UK0
Secondary accession number(s): Q53QE2 expand/collapse secondary AC list , Q53S55, Q8IZW6, Q96JT3, Q9Y4M5
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 24, 2009
Last modified: April 16, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM