Details for: ABCA12
Associated with
Other Information
Genular Protein ID: 520937185
Symbol: ABCAC_HUMAN
Name: ATP-binding cassette sub-family A member 12
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12697999
Title: Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34.
PubMed ID: 12697999
DOI: 10.1159/000069811
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 16007253
Title: Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
PubMed ID: 16007253
DOI: 10.1172/jci24834
PubMed ID: 17591952
Title: Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
PubMed ID: 17591952
PubMed ID: 17927575
Title: Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
PubMed ID: 17927575
PubMed ID: 17611579
Title: PPAR and LXR activators regulate ABCA12 expression in human keratinocytes.
PubMed ID: 17611579
PubMed ID: 19179616
Title: Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
PubMed ID: 19179616
PubMed ID: 19429679
Title: Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes.
PubMed ID: 19429679
PubMed ID: 20869849
Title: ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation.
PubMed ID: 20869849
PubMed ID: 32072744
Title: ABCA12 regulates insulin secretion from beta-cells.
PubMed ID: 32072744
PubMed ID: 20672373
Title: ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
PubMed ID: 20672373
DOI: 10.1002/humu.21326
PubMed ID: 12915478
Title: Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
PubMed ID: 12915478
DOI: 10.1093/hmg/ddg235
PubMed ID: 15756637
Title: Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
PubMed ID: 15756637
DOI: 10.1086/429844
PubMed ID: 16675967
Title: Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
PubMed ID: 16675967
PubMed ID: 16902423
Title: ABCA12 is the major harlequin ichthyosis gene.
PubMed ID: 16902423
PubMed ID: 17508018
Title: Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
PubMed ID: 17508018
PubMed ID: 18284401
Title: Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.
PubMed ID: 18284401
PubMed ID: 18772397
Title: Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
PubMed ID: 18772397
PubMed ID: 19262603
Title: ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.
PubMed ID: 19262603
DOI: 10.1038/jid.2009.23
PubMed ID: 22257947
Title: Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
PubMed ID: 22257947
Sequence Information:
- Length: 2595
- Mass: 293237
- Checksum: 5B71359B642BBAE6
- Sequence:
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
Genular Protein ID: 1736567832
Symbol: B3KVV3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
Sequence Information:
- Length: 643
- Mass: 72334
- Checksum: D227EC18EAF7991C
- Sequence:
MSKYDAARHG IIMYSHPYPG VQDQEQAAIS SLIDILVALS ILMGYSVTTA SFVTYVVREH QTKAKQLQHI SGIGVTCYWV TNFIYDMVFY LVPVAFSIGI IAIFKLPAFY SENNLGAVSL LLLLFGYATF SWMYLLAGLF HETGMAFITY VCVNLFFGIN SIVSLSVVYF LSKEKPNDPT LELISETLKR IFLIFPQFCF GYGLIELSQQ QSVLDFLKAY GVEYPNETFE MNKLGAMFVA LVSQGTMFFS LRLLINESLI KKLRLFFRKF NSSHVRETID EDEDVRAERL RVESGAAEFD LVQLYCLTKT YQLIHKKIIA VNNISIGIPA GECFGLLGVN GAGKTTIFKM LTGDIIPSSG NILIRNKTGS LGHVDSHSSL VGYCPQEDAL DDLVTVEEHL YFYARVHGIP EKDIKETVHK LLRRLHLMPF KDRATSMCSY GTKRKLSTAL ALIGKPSILL LDEPSSGMDP KSKRHLWKII SEEVQNKCSV ILTSHSMEEC EALCTRLAIM VNGKFQCIGS LQHIKSRFGR GFTVKVHLKN NKVTMETLTK FMQLHFPKTY LKDQHLSMLE YHVPVTAGGV ANIFDLLETN KTALNITNFL VSQTTLEEVF INFAKDQKSY ETADTSSQCS TISVDSQDDQ MES
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.