Q86UK0 (ABCAC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ABCA12
Synonyms:	ABC12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2595 AA.
Sequence status	Complete.
Protein existence	Evidence 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	ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. Ref.6 Ichthyosis harlequin (HI) [MIM:242500]: A very severe skin disorder 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9 Ref.10 Ref.14 Ichthyosis, lamellar, 2 (LI2) [MIM:601277]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one of the most severe forms of ichthyoses apparent at birth and persisting throughout life. Patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.14 Ref.15
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.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Ichthyosis
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC cellular homeostasis Non-traceable author statement Ref.1. Source: UniProtKB ceramide transport Inferred from electronic annotation. Source: Compara establishment of skin barrier Inferred from electronic annotation. Source: Compara keratinization Inferred from electronic annotation. Source: Compara lipid homeostasis Inferred from electronic annotation. Source: Compara lipid transport Non-traceable author statement Ref.7. Source: UniProtKB lung alveolus development Inferred from electronic annotation. Source: Compara surfactant homeostasis Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Inferred from electronic annotation. Source: Compara integral to membrane Non-traceable author statement Ref.1. Source: UniProtKB mitochondrial inner membrane Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Non-traceable author statement Ref.1. Source: UniProtKB ATPase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2595	2595	ATP-binding cassette sub-family A member 12		PRO_0000093300
Regions
	Transmembrane	23 – 43	21	Helical; Potential
	Transmembrane	1065 – 1085	21	Helical; Potential
	Transmembrane	1112 – 1132	21	Helical; Potential
	Transmembrane	1145 – 1165	21	Helical; Potential
	Transmembrane	1174 – 1194	21	Helical; Potential
	Transmembrane	1200 – 1220	21	Helical; Potential
	Transmembrane	1250 – 1270	21	Helical; Potential
	Transmembrane	1747 – 1767	21	Helical; Potential
	Transmembrane	1979 – 1999	21	Helical; Potential
	Transmembrane	2035 – 2055	21	Helical; Potential
	Transmembrane	2072 – 2092	21	Helical; Potential
	Transmembrane	2103 – 2123	21	Helical; Potential
	Transmembrane	2187 – 2207	21	Helical; Potential
	Transmembrane	2270 – 2290	21	Helical; Potential
	Domain	1346 – 1577	232	ABC transporter 1
	Domain	2254 – 2489	236	ABC transporter 2
	Nucleotide binding	1378 – 1385	8	ATP 1 Potential
	Nucleotide binding	2290 – 2297	8	ATP 2 Potential
Amino acid modifications
	Glycosylation	156	1	N-linked (GlcNAc...) Potential
	Glycosylation	174	1	N-linked (GlcNAc...) Potential
	Glycosylation	214	1	N-linked (GlcNAc...) Potential
	Glycosylation	275	1	N-linked (GlcNAc...) Potential
	Glycosylation	333	1	N-linked (GlcNAc...) Potential
	Glycosylation	367	1	N-linked (GlcNAc...) Potential
	Glycosylation	383	1	N-linked (GlcNAc...) Potential
	Glycosylation	412	1	N-linked (GlcNAc...) Potential
	Glycosylation	435	1	N-linked (GlcNAc...) Potential
	Glycosylation	528	1	N-linked (GlcNAc...) Potential
	Glycosylation	543	1	N-linked (GlcNAc...) Potential
	Glycosylation	577	1	N-linked (GlcNAc...) Potential
	Glycosylation	608	1	N-linked (GlcNAc...) Potential
	Glycosylation	623	1	N-linked (GlcNAc...) Potential
	Glycosylation	648	1	N-linked (GlcNAc...) Potential
	Glycosylation	752	1	N-linked (GlcNAc...) Potential
	Glycosylation	826	1	N-linked (GlcNAc...) Potential
	Glycosylation	920	1	N-linked (GlcNAc...) Potential
	Glycosylation	963	1	N-linked (GlcNAc...) Potential
	Glycosylation	1170	1	N-linked (GlcNAc...) Potential
	Glycosylation	1524	1	N-linked (GlcNAc...) Potential
	Glycosylation	1663	1	N-linked (GlcNAc...) Potential
	Glycosylation	1704	1	N-linked (GlcNAc...) Potential
	Glycosylation	1769	1	N-linked (GlcNAc...) Potential
	Glycosylation	1819	1	N-linked (GlcNAc...) Potential
	Glycosylation	1835	1	N-linked (GlcNAc...) Potential
	Glycosylation	1876	1	N-linked (GlcNAc...) Potential
	Glycosylation	1921	1	N-linked (GlcNAc...) Potential
	Glycosylation	1952	1	N-linked (GlcNAc...) Potential
	Glycosylation	2178	1	N-linked (GlcNAc...) Potential
	Glycosylation	2208	1	N-linked (GlcNAc...) Potential
	Glycosylation	2223	1	N-linked (GlcNAc...) Potential
	Glycosylation	2318	1	N-linked (GlcNAc...) Potential
	Glycosylation	2542	1	N-linked (GlcNAc...) Potential
	Glycosylation	2547	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 318	318	Missing in isoform 2.		VSP_011283
	Alternative sequence	319 – 328	10	LLYTLDSPAQ → MFTYIKIITS in isoform 2.		VSP_011284
	Natural variant	199	1	W → C. Corresponds to variant rs16853238 [ dbSNP | Ensembl ].		VAR_055473
	Natural variant	237	1	N → H. Corresponds to variant rs11890512 [ dbSNP | Ensembl ].		VAR_055474
	Natural variant	274	1	Q → R. Corresponds to variant rs11890468 [ dbSNP | Ensembl ].		VAR_055475
	Natural variant	287	1	R → G. Corresponds to variant rs11891778 [ dbSNP | Ensembl ].		VAR_055476
	Natural variant	345	1	T → P in NCIE. Ref.11		VAR_067075
	Natural variant	387	1	S → N in HI. Ref.9		VAR_067076
	Natural variant	459	1	S → T. Corresponds to variant rs7560008 [ dbSNP | Ensembl ].		VAR_019597
	Natural variant	476	1	A → V in a pancreatic ductal adenocarcinoma sample; somatic mutation. Ref.13		VAR_062663
	Natural variant	550	1	E → G. Corresponds to variant rs16853149 [ dbSNP | Ensembl ].		VAR_027444
	Natural variant	777	1	S → T. Ref.1 Ref.2 Ref.4 Corresponds to variant rs7560008 [ dbSNP | Ensembl ].		VAR_027445
	Natural variant	1136	1	G → D in NCIE. Ref.12		VAR_067077
	Natural variant	1179	1	G → R in HI. Ref.10		VAR_067078
	Natural variant	1235	1	W → S in NCIE. Ref.14		VAR_067079
	Natural variant	1251	1	G → D. Corresponds to variant rs13414448 [ dbSNP | Ensembl ].		VAR_027446
	Natural variant	1380	1	N → S in LI2. Ref.7 Corresponds to variant rs28940269 [ dbSNP | Ensembl ].		VAR_019598
	Natural variant	1381	1	G → E in LI2. Ref.7 Corresponds to variant rs28940268 [ dbSNP | Ensembl ].		VAR_019599
	Natural variant	1494	1	I → T in NCIE. Ref.11		VAR_067080
	Natural variant	1514	1	R → H in LI2 and NCIE. Ref.7 Ref.14 Corresponds to variant rs28940270 [ dbSNP | Ensembl ].		VAR_019600
	Natural variant	1539	1	E → K in LI2. Ref.7 Corresponds to variant rs28940271 [ dbSNP | Ensembl ].		VAR_019601
	Natural variant	1546	1	R → C. Corresponds to variant rs13401480 [ dbSNP | Ensembl ].		VAR_027447
	Natural variant	1559	1	G → V in NCIE. Ref.15		VAR_067081
	Natural variant	1651	1	G → S in LI2. Ref.7 Corresponds to variant rs28940568 [ dbSNP | Ensembl ].		VAR_019602
	Natural variant	1798	1	P → L in NCIE. Ref.14		VAR_067082
	Natural variant	1980	1	T → K in NCIE. Ref.14		VAR_067083
	Natural variant	2064	1	E → K. Corresponds to variant rs1213011 [ dbSNP | Ensembl ].		VAR_027448
	Natural variant	2365	1	D → N in HI. Ref.8 Corresponds to variant rs726070 [ dbSNP | Ensembl ].		VAR_027449
Experimental info
	Sequence conflict	651	1	Y → D in AAP21093. Ref.1
	Sequence conflict	811	1	Y → H in AAP21093. Ref.1
	Sequence conflict	826	1	N → D in AAK54355. Ref.2
	Sequence conflict	2079	1	Y → H in AAP21093. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 24, 2009. Version 3. Checksum: 5B71359B642BBAE6	FASTA	2,595	293,237
	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
	Isoform 2 [UniParc]. Checksum: 58CA49F7B23C51F2	FASTA	2,277	256,960
	10 20 30 40 50 60 MFTYIKIITS GDSDNITHVW NEDDGQTLSP SSLAAQLLIL ENFEDALLNI SANSPYIPYL 70 80 90 100 110 120 ACVRNVTDSL ARGSPENLRL LQSTIRFKKS FLRNGSYEDY FPPVPEVLKS KLSQLRNLTE 130 140 150 160 170 180 LLCESETFSL IEKSCQLSDM SFGSLCEESE FDLQLLEAAE LGTEIAASLL YHDNVISKKV 190 200 210 220 230 240 RDLLTGDPSK INLNMDQFLE QALQMNYLEN ITQLIPIIEA MLHVNNSADA SEKPGQLLEM 250 260 270 280 290 300 FKNVEELKED LRRTTGMSNR TIDKLLAIPI PDNRAEIISQ VFWLHSCDTN ITTPKLEDAM 310 320 330 340 350 360 KEFCNLSLSE RSRQSYLIGL TLLHYLNIYN FTYKVFFPRK DQKPVEKMME LFIRLKEILN 370 380 390 400 410 420 QMASGTHPLL DKMRSLKQMH LPRSVPLTQA MYRSNRMNTP QGSFSTISQA LCSQGITTEY 430 440 450 460 470 480 LTAMLPSSQR PKGNHTKDFL TYKLTKEQIA SKYGIPINST PFCFSLYKDI INMPAGPVIW 490 500 510 520 530 540 AFLKPMLLGR ILYAPYNPVT KAIMEKSNVT LRQLAELREK SQEWMDKSPL FMNSFHLLNQ 550 560 570 580 590 600 AIPMLQNTLR NPFVQVFVKF SVGLDAVELL KQIDELDILR LKLENNIDII DQLNTLSSLT 610 620 630 640 650 660 VNISSCVLYD RIQAAKTIDE MEREAKRLYK SNELFGSVIF KLPSNRSWHR GYDSGNVFLP 670 680 690 700 710 720 PVIKYTIRMS LKTAQTTRSL RTKIWAPGPH NSPSHNQIYG RAFIYLQDSI ERAIIELQTG 730 740 750 760 770 780 RNSQEIAVQV QAIPYPCFMK DNFLTSVSYS LPIVLMVAWV VFIAAFVKKL VYEKDLRLHE 790 800 810 820 830 840 YMKMMGVNSC SHFFAWLIES VGFLLVTIVI LIIILKFGNI LPKTNGFILF LYFSDYSFSV 850 860 870 880 890 900 IAMSYLISVF FNNTNIAALI GSLIYIIAFF PFIVLVTVEN ELSYVLKVFM SLLSPTAFSY 910 920 930 940 950 960 ASQYIARYEE QGIGLQWENM YTSPVQDDTT SFGWLCCLIL ADSFIYFLIA WYVRNVFPGT 970 980 990 1000 1010 1020 YGMAAPWYFP ILPSYWKERF GCAEVKPEKS NGLMFTNIMM QNTNPSASPE YMFSSNIEPE 1030 1040 1050 1060 1070 1080 PKDLTVGVAL HGVTKIYGSK VAVDNLNLNF YEGHITSLLG PNGAGKTTTI SMLTGLFGAS 1090 1100 1110 1120 1130 1140 AGTIFVYGKD IKTDLHTVRK NMGVCMQHDV LFSYLTTKEH LLLYGSIKVP HWTKKQLHEE 1150 1160 1170 1180 1190 1200 VKRTLKDTGL YSHRHKRVGT LSGGMKRKLS ISIALIGGSR VVILDEPSTG VDPCSRRSIW 1210 1220 1230 1240 1250 1260 DVISKNKTAR TIILSTHHLD EAEVLSDRIA FLEQGGLRCC GSPFYLKEAF GDGYHLTLTK 1270 1280 1290 1300 1310 1320 KKSPNLNANA VCDTMAVTAM IQSHLPEAYL KEDIGGELVY VLPPFSTKVS GAYLSLLRAL 1330 1340 1350 1360 1370 1380 DNGMGDLNIG CYGISDTTVE EVFLNLTKES QKNSAMSLEH LTQKKIGNSN ANGISTPDDL 1390 1400 1410 1420 1430 1440 SVSSSNFTDR DDKILTRGER LDGFGLLLKK IMAILIKRFH HTRRNWKGLI AQVILPIVFV 1450 1460 1470 1480 1490 1500 TTAMGLGTLR NSSNSYPEIQ ISPSLYGTSE QTAFYANYHP STEALVSAMW DFPGIDNMCL 1510 1520 1530 1540 1550 1560 NTSDLQCLNK DSLEKWNTSG EPITNFGVCS CSENVQECPK FNYSPPHRRT YSSQVIYNLT 1570 1580 1590 1600 1610 1620 GQRVENYLIS TANEFVQKRY GGWSFGLPLT KDLRFDITGV PANRTLAKVW YDPEGYHSLP 1630 1640 1650 1660 1670 1680 AYLNSLNNFL LRVNMSKYDA ARHGIIMYSH PYPGVQDQEQ ATISSLIDIL VALSILMGYS 1690 1700 1710 1720 1730 1740 VTTASFVTYV VREHQTKAKQ LQHISGIGVT CYWVTNFIYD MVFYLVPVAF SIGIIAIFKL 1750 1760 1770 1780 1790 1800 PAFYSENNLG AVSLLLLLFG YATFSWMYLL AGLFHETGMA FITYVCVNLF FGINSIVSLS 1810 1820 1830 1840 1850 1860 VVYFLSKEKP NDPTLELISE TLKRIFLIFP QFCFGYGLIE LSQQQSVLDF LKAYGVEYPN 1870 1880 1890 1900 1910 1920 ETFEMNKLGA MFVALVSQGT MFFSLRLLIN ESLIKKLRLF FRKFNSSHVR ETIDEDEDVR 1930 1940 1950 1960 1970 1980 AERLRVESGA AEFDLVQLYC LTKTYQLIHK KIIAVNNISI GIPAGECFGL LGVNGAGKTT 1990 2000 2010 2020 2030 2040 IFKMLTGDII PSSGNILIRN KTGSLGHVDS HSSLVGYCPQ EDALDDLVTV EEHLYFYARV 2050 2060 2070 2080 2090 2100 HGIPEKDIKE TVHKLLRRLH LMPFKDRATS MCSYGTKRKL STALALIGKP SILLLDEPSS 2110 2120 2130 2140 2150 2160 GMDPKSKRHL WKIISEEVQN KCSVILTSHS MEECEALCTR LAIMVNGKFQ CIGSLQHIKS 2170 2180 2190 2200 2210 2220 RFGRGFTVKV HLKNNKVTME TLTKFMQLHF PKTYLKDQHL SMLEYHVPVT AGGVANIFDL 2230 2240 2250 2260 2270 LETNKTALNI TNFLVSQTTL EEVFINFAKD QKSYETADTS SQGSTISVDS QDDQMES

References

	« Hide 'large scale' referencesShow '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. , 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 LI2 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. , 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 HI 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 HI 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. , 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 HI 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 NCIE 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. 158:864-877(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NCIE 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. , 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 NCIE 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 NCIE 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.
IPI	IPI00457109. IPI00939572.
PIR	T12512.
RefSeq	NP_056472.2. NM_015657.3. NP_775099.2. NM_173076.2.
UniGene	Hs.134585.
3D structure databases
ProteinModelPortal	Q86UK0.
SMR	Q86UK0. Positions 1346-1569, 2253-2484.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000272895.
PTM databases
PhosphoSite	Q86UK0.
Polymorphism databases
DMDM	269849713.
Proteomic databases
PaxDb	Q86UK0.
PRIDE	Q86UK0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272895; ENSP00000272895; ENSG00000144452. ENST00000389661; ENSP00000374312; ENSG00000144452.
GeneID	26154.
KEGG	hsa:26154.
UCSC	uc002vev.3. human. uc002vew.3. human.
Organism-specific databases
CTD	26154.
GeneCards	GC02M215796.
HGNC	HGNC:14637. ABCA12.
HPA	HPA043194.
MIM	242100. phenotype. 242500. phenotype. 601277. phenotype. 607800. gene.
neXtProt	NX_Q86UK0.
Orphanet	79394. Congenital nonbullous ichthyosiform erythroderma. 457. Harlequin ichthyosis. 313. Lamellar ichthyosis.
PharmGKB	PA29604.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000168538.
HOVERGEN	HBG080807.
InParanoid	Q86UK0.
KO	K05646.
OMA	VCSCSEN.
OrthoDB	EOG4XPQF1.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q86UK0.
Bgee	Q86UK0.
CleanEx	HS_ABCA12.
Genevestigator	Q86UK0.
GermOnline	ENSG00000144452. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. [Graphical view]
PANTHER	PTHR19229. PTHR19229. 1 hit.
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	26154.
NextBio	48241.
SOURCE	Search...

Entry information

Entry name

ABCAC_HUMAN

Accession

Primary (citable) accession number: Q86UK0
Secondary accession number(s): Q53QE2 , Q53S55, Q8IZW6, Q96JT3, Q9Y4M5

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	November 24, 2009
Last modified:	May 1, 2013
This is version 101 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.