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ATP-binding cassette sub-family A member 12 (ATP-binding cassette transporter 12) (ATP-binding cassette 12)

 ABCAC_HUMAN             Reviewed;        2595 AA.
Q86UK0; Q53QE2; Q53S55; Q8IZW6; Q96JT3; Q9Y4M5;
16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
24-NOV-2009, sequence version 3.
20-JUN-2018, entry version 144.
RecName: Full=ATP-binding cassette sub-family A member 12;
AltName: Full=ATP-binding cassette transporter 12;
Short=ATP-binding cassette 12;
Name=ABCA12; Synonyms=ABC12;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
VARIANT THR-777.
TISSUE=Placenta;
PubMed=12697999; DOI=10.1159/000069811;
Annilo T., Shulemin S., Chen Z.Q., Arnould I., Prades C., Lemoine C.,
Maintoux-Larois C., Devaud C., Dean M., Denefle P., Rosier M.;
"Identification and characterization of a novel ABCA subfamily member,
ABCA12, located in the lamellar ichthyosis region on 2q34.";
Cytogenet. Genome Res. 98:169-176(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT THR-777.
TISSUE=Retina;
Bonner T.I., Moses T., Detera-Wadleigh S.;
"A retinal cDNA for the ATP-binding cassette transporter ABCA12.";
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
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.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 221-2595, AND VARIANT THR-777.
Schaap F.G., van Wijland M., Groen A.K.;
"Cloning of a novel ABC transporter (ABCA12) tentatively involved in
lipid homeostatis.";
Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2400-2595.
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
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.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
REVIEW ON VARIANTS, AND INVOLVEMENT IN ARCI.
PubMed=20672373; DOI=10.1002/humu.21326;
Akiyama M.;
"ABCA12 mutations and autosomal recessive congenital ichthyosis: a
review of genotype/phenotype correlations and of pathogenetic
concepts.";
Hum. Mutat. 31:1090-1096(2010).
[7]
VARIANTS ARCI4A SER-1380; GLU-1381; HIS-1514; LYS-1539 AND SER-1651.
PubMed=12915478; DOI=10.1093/hmg/ddg235;
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.;
"Mutations in the transporter ABCA12 are associated with lamellar
ichthyosis type 2.";
Hum. Mol. Genet. 12:2369-2378(2003).
[8]
VARIANT ASN-2365.
PubMed=15756637; DOI=10.1086/429844;
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.;
"Mutations in ABCA12 underlie the severe congenital skin disease
harlequin ichthyosis.";
Am. J. Hum. Genet. 76:794-803(2005).
[9]
VARIANT ARCI4B ASN-387.
PubMed=16675967; DOI=10.1038/sj.jid.5700295;
Akiyama M., Sakai K., Sugiyama-Nakagiri Y., Yamanaka Y.,
McMillan J.R., Sawamura D., Niizeki H., Miyagawa S., Shimizu H.;
"Compound heterozygous mutations including a de novo missense mutation
in ABCA12 led to a case of harlequin ichthyosis with moderate clinical
severity.";
J. Invest. Dermatol. 126:1518-1523(2006).
[10]
VARIANT ARCI4B ARG-1179.
PubMed=16902423; DOI=10.1038/sj.jid.5700455;
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.;
"ABCA12 is the major harlequin ichthyosis gene.";
J. Invest. Dermatol. 126:2408-2413(2006).
[11]
VARIANTS ARCI4A PRO-345 AND THR-1494.
PubMed=17508018; DOI=10.1038/sj.jid.5700885;
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.;
"Novel ABCA12 mutations identified in two cases of non-bullous
congenital ichthyosiform erythroderma associated with multiple skin
malignant neoplasia.";
J. Invest. Dermatol. 127:2669-2673(2007).
[12]
VARIANT ARCI4A ASP-1136.
PubMed=18284401; DOI=10.1111/j.1365-2133.2008.08439.x;
Akiyama M., Sakai K., Hatamochi A., Yamazaki S., McMillan J.R.,
Shimizu H.;
"Novel compound heterozygous nonsense and missense ABCA12 mutations
lead to nonbullous congenital ichthyosiform erythroderma.";
Br. J. Dermatol. 158:864-867(2008).
[13]
VARIANT [LARGE SCALE ANALYSIS] VAL-476.
PubMed=18772397; DOI=10.1126/science.1164368;
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.;
"Core signaling pathways in human pancreatic cancers revealed by
global genomic analyses.";
Science 321:1801-1806(2008).
[14]
VARIANTS ARCI4A SER-1235; HIS-1514; LEU-1798 AND LYS-1980.
PubMed=19262603; DOI=10.1038/jid.2009.23;
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.;
"ABCA12 is a major causative gene for non-bullous congenital
ichthyosiform erythroderma.";
J. Invest. Dermatol. 129:2306-2309(2009).
[15]
VARIANT ARCI4A VAL-1559.
PubMed=22257947; DOI=10.1684/ejd.2011.1638;
Nawaz S., Tariq M., Ahmad I., Malik N.A., Baig S.M., Dahl N., Klar J.;
"Non-bullous congenital ichthyosiform erythroderma associated with
homozygosity for a novel missense mutation in an ATP binding domain of
ABCA12.";
Eur. J. Dermatol. 22:178-181(2012).
-!- FUNCTION: Probable transporter involved in lipid homeostasis.
-!- INTERACTION:
O95477:ABCA1; NbExp=4; IntAct=EBI-9541582, EBI-784112;
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Comment=Additional isoforms seem to exist.;
Name=1;
IsoId=Q86UK0-1; Sequence=Displayed;
Name=2;
IsoId=Q86UK0-2; Sequence=VSP_011283, VSP_011284;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Mainly expressed in the stomach, placenta,
testis and fetal brain. {ECO:0000269|PubMed:12697999}.
-!- DOMAIN: Multifunctional polypeptide with two homologous halves,
each containing a hydrophobic membrane-anchoring domain and an ATP
binding cassette (ABC) domain. {ECO:0000250}.
-!- 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. {ECO:0000269|PubMed:12915478,
ECO:0000269|PubMed:17508018, ECO:0000269|PubMed:18284401,
ECO:0000269|PubMed:19262603, ECO:0000269|PubMed:22257947}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: 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. {ECO:0000269|PubMed:16675967,
ECO:0000269|PubMed:16902423}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the ABC transporter superfamily. ABCA
family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC
proteins;
URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0";
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EMBL; AY219711; AAP21093.1; -; mRNA.
EMBL; AY033486; AAK54355.1; -; mRNA.
EMBL; AC072062; AAY24276.1; -; Genomic_DNA.
EMBL; AC114780; AAY24230.1; -; Genomic_DNA.
EMBL; AF418105; AAN40735.1; ALT_INIT; mRNA.
EMBL; AL080207; CAB45776.1; -; mRNA.
CCDS; CCDS33372.1; -. [Q86UK0-1]
CCDS; CCDS33373.1; -. [Q86UK0-2]
PIR; T12512; T12512.
RefSeq; NP_056472.2; NM_015657.3. [Q86UK0-2]
RefSeq; NP_775099.2; NM_173076.2. [Q86UK0-1]
UniGene; Hs.134585; -.
ProteinModelPortal; Q86UK0; -.
SMR; Q86UK0; -.
IntAct; Q86UK0; 2.
STRING; 9606.ENSP00000272895; -.
TCDB; 3.A.1.211.13; the atp-binding cassette (abc) superfamily.
iPTMnet; Q86UK0; -.
PhosphoSitePlus; Q86UK0; -.
BioMuta; ABCA12; -.
DMDM; 269849713; -.
EPD; Q86UK0; -.
PaxDb; Q86UK0; -.
PeptideAtlas; Q86UK0; -.
PRIDE; Q86UK0; -.
ProteomicsDB; 69821; -.
ProteomicsDB; 69822; -. [Q86UK0-2]
Ensembl; ENST00000272895; ENSP00000272895; ENSG00000144452. [Q86UK0-1]
Ensembl; ENST00000389661; ENSP00000374312; ENSG00000144452. [Q86UK0-2]
GeneID; 26154; -.
KEGG; hsa:26154; -.
UCSC; uc002vev.4; human. [Q86UK0-1]
CTD; 26154; -.
DisGeNET; 26154; -.
EuPathDB; HostDB:ENSG00000144452.14; -.
GeneCards; ABCA12; -.
GeneReviews; ABCA12; -.
HGNC; HGNC:14637; ABCA12.
HPA; HPA078239; -.
MalaCards; ABCA12; -.
MIM; 242500; phenotype.
MIM; 601277; phenotype.
MIM; 607800; gene.
neXtProt; NX_Q86UK0; -.
OpenTargets; ENSG00000144452; -.
Orphanet; 79394; Congenital non-bullous ichthyosiform erythroderma.
Orphanet; 457; Harlequin ichthyosis.
Orphanet; 313; Lamellar ichthyosis.
PharmGKB; PA29604; -.
eggNOG; KOG0059; Eukaryota.
eggNOG; COG1131; LUCA.
GeneTree; ENSGT00760000118965; -.
HOGENOM; HOG000168538; -.
HOVERGEN; HBG080807; -.
InParanoid; Q86UK0; -.
KO; K05646; -.
OMA; NYSPPHR; -.
OrthoDB; EOG091G007E; -.
PhylomeDB; Q86UK0; -.
TreeFam; TF105191; -.
Reactome; R-HSA-1369062; ABC transporters in lipid homeostasis.
Reactome; R-HSA-5682294; Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B.
GeneWiki; ABCA12; -.
GenomeRNAi; 26154; -.
PRO; PR:Q86UK0; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000144452; -.
CleanEx; HS_ABCA12; -.
ExpressionAtlas; Q86UK0; baseline and differential.
Genevisible; Q86UK0; HS.
GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
GO; GO:0005829; C:cytosol; IEA:Ensembl.
GO; GO:0097209; C:epidermal lamellar body; IDA:BHF-UCL.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0034191; F:apolipoprotein A-I receptor binding; IPI:BHF-UCL.
GO; GO:0005524; F:ATP binding; NAS:UniProtKB.
GO; GO:0042626; F:ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central.
GO; GO:0005319; F:lipid transporter activity; IDA:BHF-UCL.
GO; GO:0034040; F:lipid-transporting ATPase activity; IC:BHF-UCL.
GO; GO:0005102; F:signaling receptor binding; IPI:BHF-UCL.
GO; GO:0019725; P:cellular homeostasis; NAS:UniProtKB.
GO; GO:0035627; P:ceramide transport; IEA:Ensembl.
GO; GO:0061436; P:establishment of skin barrier; IEA:Ensembl.
GO; GO:0031424; P:keratinization; IEA:Ensembl.
GO; GO:0055088; P:lipid homeostasis; IEA:Ensembl.
GO; GO:0006869; P:lipid transport; IDA:BHF-UCL.
GO; GO:0048286; P:lung alveolus development; IEA:Ensembl.
GO; GO:0033700; P:phospholipid efflux; IMP:BHF-UCL.
GO; GO:0010875; P:positive regulation of cholesterol efflux; IDA:BHF-UCL.
GO; GO:2000010; P:positive regulation of protein localization to cell surface; IEA:Ensembl.
GO; GO:0072659; P:protein localization to plasma membrane; IDA:BHF-UCL.
GO; GO:0045055; P:regulated exocytosis; IMP:BHF-UCL.
GO; GO:0032940; P:secretion by cell; IMP:BHF-UCL.
GO; GO:0043129; P:surfactant homeostasis; IEA:Ensembl.
GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
InterPro; IPR003593; AAA+_ATPase.
InterPro; IPR003439; ABC_transporter-like.
InterPro; IPR017871; ABC_transporter_CS.
InterPro; IPR026082; ABCA.
InterPro; IPR030371; ABCA12.
InterPro; IPR027417; P-loop_NTPase.
PANTHER; PTHR19229; PTHR19229; 1.
PANTHER; PTHR19229:SF29; PTHR19229:SF29; 1.
Pfam; PF00005; ABC_tran; 2.
SMART; SM00382; AAA; 2.
SUPFAM; SSF52540; SSF52540; 2.
PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
PROSITE; PS50893; ABC_TRANSPORTER_2; 2.
1: Evidence at protein level;
Alternative splicing; ATP-binding; Complete proteome;
Disease mutation; Glycoprotein; Ichthyosis; Membrane;
Nucleotide-binding; Polymorphism; Reference proteome; Repeat;
Transmembrane; Transmembrane helix; Transport.
CHAIN 1 2595 ATP-binding cassette sub-family A member
12.
/FTId=PRO_0000093300.
TRANSMEM 23 43 Helical. {ECO:0000255}.
TRANSMEM 1065 1085 Helical. {ECO:0000255}.
TRANSMEM 1112 1132 Helical. {ECO:0000255}.
TRANSMEM 1145 1165 Helical. {ECO:0000255}.
TRANSMEM 1174 1194 Helical. {ECO:0000255}.
TRANSMEM 1200 1220 Helical. {ECO:0000255}.
TRANSMEM 1250 1270 Helical. {ECO:0000255}.
TRANSMEM 1747 1767 Helical. {ECO:0000255}.
TRANSMEM 1979 1999 Helical. {ECO:0000255}.
TRANSMEM 2035 2055 Helical. {ECO:0000255}.
TRANSMEM 2072 2092 Helical. {ECO:0000255}.
TRANSMEM 2103 2123 Helical. {ECO:0000255}.
TRANSMEM 2187 2207 Helical. {ECO:0000255}.
TRANSMEM 2270 2290 Helical. {ECO:0000255}.
DOMAIN 1346 1577 ABC transporter 1. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
DOMAIN 2254 2489 ABC transporter 2. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
NP_BIND 1378 1385 ATP 1. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
NP_BIND 2290 2297 ATP 2. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
CARBOHYD 156 156 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 174 174 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 214 214 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 275 275 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 333 333 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 367 367 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 383 383 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 412 412 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 435 435 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 528 528 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 543 543 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 577 577 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 608 608 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 623 623 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 648 648 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 752 752 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 826 826 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 920 920 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 963 963 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1170 1170 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1524 1524 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1663 1663 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1704 1704 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1769 1769 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1819 1819 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1835 1835 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1876 1876 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1921 1921 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1952 1952 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2178 2178 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2208 2208 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2223 2223 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2318 2318 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2542 2542 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2547 2547 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 318 Missing (in isoform 2).
{ECO:0000303|Ref.2}.
/FTId=VSP_011283.
VAR_SEQ 319 328 LLYTLDSPAQ -> MFTYIKIITS (in isoform 2).
{ECO:0000303|Ref.2}.
/FTId=VSP_011284.
VARIANT 199 199 W -> C (in dbSNP:rs16853238).
/FTId=VAR_055473.
VARIANT 237 237 N -> H (in dbSNP:rs11890512).
/FTId=VAR_055474.
VARIANT 274 274 Q -> R (in dbSNP:rs11890468).
/FTId=VAR_055475.
VARIANT 287 287 R -> G (in dbSNP:rs11891778).
/FTId=VAR_055476.
VARIANT 345 345 T -> P (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:17508018}.
/FTId=VAR_067075.
VARIANT 387 387 S -> N (in ARCI4B; dbSNP:rs746315995).
{ECO:0000269|PubMed:16675967}.
/FTId=VAR_067076.
VARIANT 459 459 S -> T (in dbSNP:rs7560008).
/FTId=VAR_019597.
VARIANT 476 476 A -> V (in a pancreatic ductal
adenocarcinoma sample; somatic mutation;
dbSNP:rs370640837).
{ECO:0000269|PubMed:18772397}.
/FTId=VAR_062663.
VARIANT 550 550 E -> G (in dbSNP:rs16853149).
/FTId=VAR_027444.
VARIANT 777 777 S -> T (in dbSNP:rs7560008).
{ECO:0000269|PubMed:12697999,
ECO:0000269|Ref.2, ECO:0000269|Ref.4}.
/FTId=VAR_027445.
VARIANT 1136 1136 G -> D (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:18284401}.
/FTId=VAR_067077.
VARIANT 1179 1179 G -> R (in ARCI4B; dbSNP:rs267606622).
{ECO:0000269|PubMed:16902423}.
/FTId=VAR_067078.
VARIANT 1235 1235 W -> S (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:19262603}.
/FTId=VAR_067079.
VARIANT 1251 1251 G -> D (in dbSNP:rs13414448).
/FTId=VAR_027446.
VARIANT 1380 1380 N -> S (in ARCI4A; dbSNP:rs28940269).
{ECO:0000269|PubMed:12915478}.
/FTId=VAR_019598.
VARIANT 1381 1381 G -> E (in ARCI4A; dbSNP:rs28940268).
{ECO:0000269|PubMed:12915478}.
/FTId=VAR_019599.
VARIANT 1494 1494 I -> T (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:17508018}.
/FTId=VAR_067080.
VARIANT 1514 1514 R -> H (in ARCI4A; dbSNP:rs28940270).
{ECO:0000269|PubMed:12915478,
ECO:0000269|PubMed:19262603}.
/FTId=VAR_019600.
VARIANT 1539 1539 E -> K (in ARCI4A; dbSNP:rs28940271).
{ECO:0000269|PubMed:12915478}.
/FTId=VAR_019601.
VARIANT 1546 1546 R -> C (in dbSNP:rs13401480).
/FTId=VAR_027447.
VARIANT 1559 1559 G -> V (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:22257947}.
/FTId=VAR_067081.
VARIANT 1651 1651 G -> S (in ARCI4A; dbSNP:rs28940568).
{ECO:0000269|PubMed:12915478}.
/FTId=VAR_019602.
VARIANT 1798 1798 P -> L (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma;
dbSNP:rs181314573).
{ECO:0000269|PubMed:19262603}.
/FTId=VAR_067082.
VARIANT 1980 1980 T -> K (in ARCI4A; skin phenotype
consistent with non-bullous congenital
ichthyosiform erythroderma).
{ECO:0000269|PubMed:19262603}.
/FTId=VAR_067083.
VARIANT 2064 2064 E -> K (in dbSNP:rs1213011).
/FTId=VAR_027448.
VARIANT 2365 2365 D -> N (in dbSNP:rs726070).
{ECO:0000269|PubMed:15756637}.
/FTId=VAR_027449.
CONFLICT 651 651 Y -> D (in Ref. 1; AAP21093).
{ECO:0000305}.
CONFLICT 811 811 Y -> H (in Ref. 1; AAP21093).
{ECO:0000305}.
CONFLICT 826 826 N -> D (in Ref. 2; AAK54355).
{ECO:0000305}.
CONFLICT 2079 2079 Y -> H (in Ref. 1; AAP21093).
{ECO:0000305}.
SEQUENCE 2595 AA; 293237 MW; 5B71359B642BBAE6 CRC64;
MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT AKPTCYLAPR
NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD ALFKDSEILR KSSNLDKDSS
LSFQSTQVPE RRHASLATVF PSPSSDLEIP GTYTFNGSQV LARILGLEKL LKQNSTSEDI
RRELCDSYSG YIVDDAFSWT FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK
IVFQEIVRML SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS LAAQLLILEN
FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ STIRFKKSFL RNGSYEDYFP
PVPEVLKSKL SQLRNLTELL CESETFSLIE KSCQLSDMSF GSLCEESEFD LQLLEAAELG
TEIAASLLYH DNVISKKVRD LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML
HVNNSADASE KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT YKVFFPRKDQ
KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP RSVPLTQAMY RSNRMNTPQG
SFSTISQALC SQGITTEYLT AMLPSSQRPK GNHTKDFLTY KLTKEQIASK YGIPINSTPF
CFSLYKDIIN MPAGPVIWAF LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ
EWMDKSPLFM NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN ELFGSVIFKL
PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT KIWAPGPHNS PSHNQIYGRA
FIYLQDSIER AIIELQTGRN SQEIAVQVQA IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF
IAAFVKKLVY EKDLRLHEYM KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP
KTNGFILFLY FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF GWLCCLILAD
SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC AEVKPEKSNG LMFTNIMMQN
TNPSASPEYM FSSNIEPEPK DLTVGVALHG VTKIYGSKVA VDNLNLNFYE GHITSLLGPN
GAGKTTTISM LTGLFGASAG TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL
LYGSIKVPHW TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL EQGGLRCCGS
PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ SHLPEAYLKE DIGGELVYVL
PPFSTKVSGA YLSLLRALDN GMGDLNIGCY GISDTTVEEV FLNLTKESQK NSAMSLEHLT
QKKIGNSNAN GISTPDDLSV SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT
RRNWKGLIAQ VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS ENVQECPKFN
YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG WSFGLPLTKD LRFDITGVPA
NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT
ISSLIDILVA LSILMGYSVT TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV
FYLVPVAFSI GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF CFGYGLIELS
QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF FSLRLLINES LIKKLRLFFR
KFNSSHVRET IDEDEDVRAE RLRVESGAAE FDLVQLYCLT KTYQLIHKKI IAVNNISIGI
PAGECFGLLG VNGAGKTTIF KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED
ALDDLVTVEE HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME ECEALCTRLA
IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL TKFMQLHFPK TYLKDQHLSM
LEYHVPVTAG GVANIFDLLE TNKTALNITN FLVSQTTLEE VFINFAKDQK SYETADTSSQ
GSTISVDSQD DQMES


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