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Q86UQ4 (ABCAD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. 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 13
Gene names
Name:ABCA13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length5058 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Expressed in testis, bone marrow and trachea. Ref.1

Sequence similarities

Belongs to the ABC transporter superfamily.

Contains 2 ABC transporter domains.

Sequence caution

The sequence BAC03623.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC86492.1 differs from that shown. Reason: Erroneous termination at position 123. Translated as Glu.

The sequence BAC86492.1 differs from that shown. Reason: Frameshift at position 156.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86UQ4-1)

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: Q86UQ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     300-317: IPTDTSLEKMVCSVLSST → VHMLDCFSHRWAFPGDWI
     318-5058: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 3 (identifier: Q86UQ4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-2298: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 50585058ATP-binding cassette sub-family A member 13
PRO_0000253573

Regions

Transmembrane23 – 4321Helical; Potential
Transmembrane3568 – 358821Helical; Potential
Transmembrane3607 – 362721Helical; Potential
Transmembrane3648 – 366821Helical; Potential
Transmembrane3679 – 369921Helical; Potential
Transmembrane3709 – 372921Helical; Potential
Transmembrane3752 – 377221Helical; Potential
Transmembrane4226 – 424621Helical; Potential
Transmembrane4458 – 447821Helical; Potential
Transmembrane4504 – 452421Helical; Potential
Transmembrane4536 – 455621Helical; Potential
Transmembrane4568 – 458821Helical; Potential
Transmembrane4607 – 462721Helical; Potential
Transmembrane4651 – 467121Helical; Potential
Domain3842 – 4074233ABC transporter 1
Domain4718 – 4956239ABC transporter 2
Nucleotide binding3875 – 38828ATP 1 Potential
Nucleotide binding4754 – 47618ATP 2 Potential

Natural variations

Alternative sequence1 – 22982298Missing in isoform 3.
VSP_021068
Alternative sequence300 – 31718IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2.
VSP_021069
Alternative sequence318 – 50584741Missing in isoform 2.
VSP_021070
Natural variant5061P → L.
Corresponds to variant rs1880738 [ dbSNP | Ensembl ].
VAR_059087
Natural variant5551R → H.
Corresponds to variant rs2361519 [ dbSNP | Ensembl ].
VAR_059088
Natural variant7671I → S.
Corresponds to variant rs17712293 [ dbSNP | Ensembl ].
VAR_059089
Natural variant7991E → K.
Corresponds to variant rs17547816 [ dbSNP | Ensembl ].
VAR_059090
Natural variant14341I → V.
Corresponds to variant rs17132195 [ dbSNP | Ensembl ].
VAR_059091
Natural variant15081T → I.
Corresponds to variant rs6583483 [ dbSNP | Ensembl ].
VAR_055470
Natural variant15401F → L.
Corresponds to variant rs17712299 [ dbSNP | Ensembl ].
VAR_059092
Natural variant18891I → K.
Corresponds to variant rs17132197 [ dbSNP | Ensembl ].
VAR_059093
Natural variant20331N → D.
Corresponds to variant rs17661364 [ dbSNP | Ensembl ].
VAR_059094
Natural variant21541S → L.
Corresponds to variant rs17092911 [ dbSNP | Ensembl ].
VAR_059095
Natural variant21781A → E.
Corresponds to variant rs1880736 [ dbSNP | Ensembl ].
VAR_059096
Natural variant22121L → S.
Corresponds to variant rs17132198 [ dbSNP | Ensembl ].
VAR_059097
Natural variant24361K → R.
Corresponds to variant rs17132206 [ dbSNP | Ensembl ].
VAR_059098
Natural variant25371S → A.
Corresponds to variant rs17132208 [ dbSNP | Ensembl ].
VAR_059099
Natural variant26741R → W.
Corresponds to variant rs2222648 [ dbSNP | Ensembl ].
VAR_059100
Natural variant31421A → V.
Corresponds to variant rs3931814 [ dbSNP | Ensembl ].
VAR_059101
Natural variant38511Y → F. Ref.4
Corresponds to variant rs17132289 [ dbSNP | Ensembl ].
VAR_059102
Natural variant42771N → D.
Corresponds to variant rs4917152 [ dbSNP | Ensembl ].
VAR_059103
Natural variant43021Q → R.
Corresponds to variant rs4917153 [ dbSNP | Ensembl ].
VAR_059104
Natural variant43351P → A.
Corresponds to variant rs17132370 [ dbSNP | Ensembl ].
VAR_059105

Experimental info

Sequence conflict14161H → R in AAP13576. Ref.1
Sequence conflict27181P → L in AAP13576. Ref.1
Sequence conflict28311L → R in AAP13576. Ref.1
Sequence conflict28701K → E in AAP13576. Ref.1
Sequence conflict30571T → A in AAO59914. Ref.4
Sequence conflict42711F → FS in AAO59914. Ref.4
Sequence conflict44461K → E in AAP13576. Ref.1
Sequence conflict44461K → E in AAO59914. Ref.4
Sequence conflict45841L → P in AAP13576. Ref.1

Sequences

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

Last modified April 5, 2011. Version 3.
Checksum: B7F03D10101551E4

FASTA5,058576,159
        10         20         30         40         50         60 
MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR YRDICYLQPR 

        70         80         90        100        110        120 
DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF QTAADPKKVN NLAFLKEIQD 

       130        140        150        160        170        180 
LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY GSSFFTMDLN KTEEVILKLE SLHQQPHIWD 

       190        200        210        220        230        240 
FLLLLPRLHT SHDHVEDGMD VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI 

       250        260        270        280        290        300 
STLTFLQQHG VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI 

       310        320        330        340        350        360 
PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR VYQQVFVQWQ 

       370        380        390        400        410        420 
QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL LLLNDSLSAD GPKDNHTFPK 

       430        440        450        460        470        480 
ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA LRNAIAQNLH FVQEVLICLE TSANDFKWFE 

       490        500        510        520        530        540 
LNQLKLEKDV FFWELKQMLA KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET 

       550        560        570        580        590        600 
SVLNKLLGSV EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG 

       610        620        630        640        650        660 
ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT CEVAQYVNMQ 

       670        680        690        700        710        720 
ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS PTASISRALN FTKHLLMMEK 

       730        740        750        760        770        780 
KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD SSIVPSFHSL PSLTEDILNI SSLWTNHLKS 

       790        800        810        820        830        840 
LKRDPSATDA QKLLEFGNEV IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY 

       850        860        870        880        890        900 
GISKGKRAKL ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT 

       910        920        930        940        950        960 
SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL NVFQDKDSAL 

       970        980        990       1000       1010       1020 
LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK QFNFQNISKA FAFLFKTAEV 

      1030       1040       1050       1060       1070       1080 
LGGISNVSYC QQLLSIFNFL ELQAQSFMST EGQELEVIHT TLTGLKQLLI IDEDFRISLF 

      1090       1100       1110       1120       1130       1140 
QYMSQFFNSS VEDLLDNKCL ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK 

      1150       1160       1170       1180       1190       1200 
FMSIHCTVSW LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL 

      1210       1220       1230       1240       1250       1260 
PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL EQVEKSLFTM 

      1270       1280       1290       1300       1310       1320 
EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR NLDSINDFLS NNLTNYGEKF 

      1330       1340       1350       1360       1370       1380 
ENIITELREA IVFLRNVSHD RDLFSCADIF QNVTECILED GFLYVNTSQR MLRILDTLNS 

      1390       1400       1410       1420       1430       1440 
TFSSENTISS LKGCIVWLDV INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW 

      1450       1460       1470       1480       1490       1500 
VLNIKKPLCS SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV 

      1510       1520       1530       1540       1550       1560 
RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL GKEFQKLVKG 

      1570       1580       1590       1600       1610       1620 
IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL ASYLAFSLSH DLQNSPKIII 

      1630       1640       1650       1660       1670       1680 
SPEIMKATGL GIQLIRDVFN SLMPVVHHTS PQNAGYMQAL KKVTSVMRTL KKADIDLLVD 

      1690       1700       1710       1720       1730       1740 
QLEQVSVNLM DFFKNISSVG TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV 

      1750       1760       1770       1780       1790       1800 
DAVIDVYYVL PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD 

      1810       1820       1830       1840       1850       1860 
TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS FYGKVASILD 

      1870       1880       1890       1900       1910       1920 
HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL LELSEVFHVN ISLVKTVQKF 

      1930       1940       1950       1960       1970       1980 
WHKILPFVPP SINQTRDSIS ELCPSGSIKQ VALQIIEKLK NVNFTKVTSG ENILDKLSSL 

      1990       2000       2010       2020       2030       2040 
NKILNINEDT ETSVQNIISS NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE 

      2050       2060       2070       2080       2090       2100 
ALSSFIEKSE TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ 

      2110       2120       2130       2140       2150       2160 
FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT NESSTEDIAL 

      2170       2180       2190       2200       2210       2220 
LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV VQLLFENILI NLINNLAGNS 

      2230       2240       2250       2260       2270       2280 
QEAAWNLNDT DLQIMNFINL ILNHMQSETS RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS 

      2290       2300       2310       2320       2330       2340 
ENKISLLLKY FHKDVIAEMS FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM 

      2350       2360       2370       2380       2390       2400 
KSSFILDNGE FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE 

      2410       2420       2430       2440       2450       2460 
DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL ANLTDLLFFI 

      2470       2480       2490       2500       2510       2520 
NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG TLVMLLNDSA DLRDLATSMD 

      2530       2540       2550       2560       2570       2580 
SIVKLLKLVK KVSGKMSTVF KTHFISNTKD SVKFFDTLYS IMQQSVQNLV KEIATLKKID 

      2590       2600       2610       2620       2630       2640 
HFTFEKINDL LVPFLDLAFE MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE 

      2650       2660       2670       2680       2690       2700 
FLTSVKMNLE DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS 

      2710       2720       2730       2740       2750       2760 
THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL KKDNWNVSNV 

      2770       2780       2790       2800       2810       2820 
LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD TPLSQNITHH QLEKAIHNVL 

      2830       2840       2850       2860       2870       2880 
SRIALWRKGL LFNNSEWITS TRTLFQPLFE IFIKATTGKN VTSEKEERTK KEMIDFPYSF 

      2890       2900       2910       2920       2930       2940 
KPFFCLEKYL GGLFVLTKYW QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV 

      2950       2960       2970       2980       2990       3000 
LTIVAENPSW TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE 

      3010       3020       3030       3040       3050       3060 
SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS SGNPIMTFLS 

      3070       3080       3090       3100       3110       3120 
NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE ANISHSKVLF SALTVALSGK 

      3130       3140       3150       3160       3170       3180 
CDQEILHLLL TFPKGEKSWI AAEELCSLPG SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN 

      3190       3200       3210       3220       3230       3240 
GLLNSLLDIV SSLSALLAKA QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG 

      3250       3260       3270       3280       3290       3300 
SFQFVMKMVC KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL 

      3310       3320       3330       3340       3350       3360 
PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET LLEMSSLFQR 

      3370       3380       3390       3400       3410       3420 
SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT YGGLLDEMFN HAGAGRFRFL 

      3430       3440       3450       3460       3470       3480 
GSILVNLSSC VALNRFQALQ SVDILETKAH ELLQQNSFLA SIIFSNSLFD KNFRSESVKL 

      3490       3500       3510       3520       3530       3540 
PPHVSYTIRT NVLYSVRTDV VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT 

      3550       3560       3570       3580       3590       3600 
GQEALEPAAQ TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE 

      3610       3620       3630       3640       3650       3660 
EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV FLFLLDFGMS 

      3670       3680       3690       3700       3710       3720 
VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH NQLSFVNQTF LCLLSTTAFG 

      3730       3740       3750       3760       3770       3780 
QGVFFITFLE GQETGIQWNN MYQALEQGGM TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT 

      3790       3800       3810       3820       3830       3840 
FGLRKPWYFP FTASYWKSVG FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP 

      3850       3860       3870       3880       3890       3900 
GVTLVSVTKE YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII 

      3910       3920       3930       3940       3950       3960 
INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK ELHQQVNQTL 

      3970       3980       3990       4000       4010       4020 
QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD EPTSGVDPCS RHSLWDILLK 

      4030       4040       4050       4060       4070       4080 
YREGRTIIFT THHLDEAEAL SDRVAVLQHG RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL 

      4090       4100       4110       4120       4130       4140 
EAHDLKDMAC VTSLIKIYIP QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH 

      4150       4160       4170       4180       4190       4200 
LTGYGISDTT LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG 

      4210       4220       4230       4240       4250       4260 
VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA TEYPPLRLTP 

      4270       4280       4290       4300       4310       4320 
GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP RQKNSSCWRT DPFSHPEFQD 

      4330       4340       4350       4360       4370       4380 
SCGCLKCPNR SASAPYLTNH LGHTLLNLSG FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG 

      4390       4400       4410       4420       4430       4440 
GANGNISKPP TLAKVWYNQK GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG 

      4450       4460       4470       4480       4490       4500 
GALLNKDKIL ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW 

      4510       4520       4530       4540       4550       4560 
FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT LPWMYLMSRI 

      4570       4580       4590       4600       4610       4620 
FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN LQNIYDVLKW VFTIFPQFCL 

      4630       4640       4650       4660       4670       4680 
GQGLVELCYN QIKYDLTHNF GIDSYVSPFE MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL 

      4690       4700       4710       4720       4730       4740 
RWPRGHSTLQ GTVKSSKDTD VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI 

      4750       4760       4770       4780       4790       4800 
SLGIPKGECF GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI 

      4810       4820       4830       4840       4850       4860 
GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA DKPVATYSGG 

      4870       4880       4890       4900       4910       4920 
TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM KEVREGCAAV LTSHSMEECE 

      4930       4940       4950       4960       4970       4980 
ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF 

      4990       5000       5010       5020       5030       5040 
KGQHLNLLEY HVPKRWGCLA DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL 

      5050 
QSTLDPSTDS HHTHHLPI 

« Hide

Isoform 2 [UniParc].

Checksum: F24011161CF5FA8A
Show »

FASTA31736,920
Isoform 3 [UniParc].

Checksum: 735554315E7EECAF
Show »

FASTA2,760312,248

References

« Hide 'large scale' references
[1]"The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon."
Prades C., Arnould I., Annilo T., Shulenin S., Chen Z.-Q., Orosco L., Triunfol M., Devaud C., Maintoux-Larois C., Lafargue C., Lemoine C., Denefle P., Rosier M., Dean M.
Cytogenet. Genome Res. 98:160-168(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORM 3), TISSUE SPECIFICITY.
Tissue: Lung.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4659-5058 (ISOFORM 1).
Tissue: Thymus and Tongue.
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Cloning of two novel ABC transporters, ABCA12 and ABCA13, tentatively involved in lipid homeostasis."
Schaap F.G., van Wijland M.J.A., Groen A.K.
Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2933-5058 (ISOFORM 1), VARIANT PHE-3851.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY204751 mRNA. Translation: AAP13576.1.
AK091270 mRNA. Translation: BAC03623.1. Different initiation.
AK126220 mRNA. Translation: BAC86492.1. Sequence problems.
AC073424 Genomic DNA. No translation available.
AC073927 Genomic DNA. No translation available.
AC091770 Genomic DNA. No translation available.
AC095039 Genomic DNA. No translation available.
AC232300 Genomic DNA. No translation available.
AC232312 Genomic DNA. No translation available.
AF501281 mRNA. Translation: AAO59914.1.
RefSeqNP_689914.2. NM_152701.3.
UniGeneHs.226568.
Hs.745575.

3D structure databases

ProteinModelPortalQ86UQ4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127551. 3 interactions.
STRING9606.ENSP00000411096.

PTM databases

PhosphoSiteQ86UQ4.

Polymorphism databases

DMDM327478592.

Proteomic databases

PaxDbQ86UQ4.
PRIDEQ86UQ4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000417403; ENSP00000409268; ENSG00000179869. [Q86UQ4-2]
ENST00000435803; ENSP00000411096; ENSG00000179869. [Q86UQ4-1]
GeneID154664.
KEGGhsa:154664.
UCSCuc003top.2. human. [Q86UQ4-2]
uc003toq.2. human. [Q86UQ4-1]

Organism-specific databases

CTD154664.
GeneCardsGC07P048208.
H-InvDBHIX0006678.
HIX0033928.
HGNCHGNC:14638. ABCA13.
HPAHPA039914.
MIM607807. gene.
neXtProtNX_Q86UQ4.
PharmGKBPA134925234.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000033760.
HOVERGENHBG080808.
InParanoidQ86UQ4.
KOK05647.
OMASWLQMWT.
OrthoDBEOG7P8P6W.
PhylomeDBQ86UQ4.
TreeFamTF105191.

Gene expression databases

ArrayExpressQ86UQ4.
BgeeQ86UQ4.
CleanExHS_ABCA13.
GenevestigatorQ86UQ4.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
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.
PROSITEPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA13. human.
GeneWikiABCA13.
GenomeRNAi154664.
NextBio87290.
PROQ86UQ4.
SOURCESearch...

Entry information

Entry nameABCAD_HUMAN
AccessionPrimary (citable) accession number: Q86UQ4
Secondary accession number(s): Q6ZTT7, Q86WI2, Q8N248
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 90 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 7

Human chromosome 7: entries, gene names and cross-references to MIM