Q86UQ4 (ABCAD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family A member 13

Gene names

Name:

ABCA13

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	5058 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 5058	5058	ATP-binding cassette sub-family A member 13		PRO_0000253573
Regions
	Transmembrane	23 – 43	21	Helical; Potential
	Transmembrane	3568 – 3588	21	Helical; Potential
	Transmembrane	3607 – 3627	21	Helical; Potential
	Transmembrane	3648 – 3668	21	Helical; Potential
	Transmembrane	3679 – 3699	21	Helical; Potential
	Transmembrane	3709 – 3729	21	Helical; Potential
	Transmembrane	3752 – 3772	21	Helical; Potential
	Transmembrane	4226 – 4246	21	Helical; Potential
	Transmembrane	4458 – 4478	21	Helical; Potential
	Transmembrane	4504 – 4524	21	Helical; Potential
	Transmembrane	4536 – 4556	21	Helical; Potential
	Transmembrane	4568 – 4588	21	Helical; Potential
	Transmembrane	4607 – 4627	21	Helical; Potential
	Transmembrane	4651 – 4671	21	Helical; Potential
	Domain	3842 – 4074	233	ABC transporter 1
	Domain	4718 – 4956	239	ABC transporter 2
	Nucleotide binding	3875 – 3882	8	ATP 1 Potential
	Nucleotide binding	4754 – 4761	8	ATP 2 Potential
Natural variations
	Alternative sequence	1 – 2298	2298	Missing in isoform 3.		VSP_021068
	Alternative sequence	300 – 317	18	IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2.		VSP_021069
	Alternative sequence	318 – 5058	4741	Missing in isoform 2.		VSP_021070
	Natural variant	506	1	P → L. Corresponds to variant rs1880738 [ dbSNP | Ensembl ].		VAR_059087
	Natural variant	555	1	R → H. Corresponds to variant rs2361519 [ dbSNP | Ensembl ].		VAR_059088
	Natural variant	767	1	I → S. Corresponds to variant rs17712293 [ dbSNP | Ensembl ].		VAR_059089
	Natural variant	799	1	E → K. Corresponds to variant rs17547816 [ dbSNP | Ensembl ].		VAR_059090
	Natural variant	1434	1	I → V. Corresponds to variant rs17132195 [ dbSNP | Ensembl ].		VAR_059091
	Natural variant	1508	1	T → I. Corresponds to variant rs6583483 [ dbSNP | Ensembl ].		VAR_055470
	Natural variant	1540	1	F → L. Corresponds to variant rs17712299 [ dbSNP | Ensembl ].		VAR_059092
	Natural variant	1889	1	I → K. Corresponds to variant rs17132197 [ dbSNP | Ensembl ].		VAR_059093
	Natural variant	2033	1	N → D. Corresponds to variant rs17661364 [ dbSNP | Ensembl ].		VAR_059094
	Natural variant	2154	1	S → L. Corresponds to variant rs17092911 [ dbSNP | Ensembl ].		VAR_059095
	Natural variant	2178	1	A → E. Corresponds to variant rs1880736 [ dbSNP | Ensembl ].		VAR_059096
	Natural variant	2212	1	L → S. Corresponds to variant rs17132198 [ dbSNP | Ensembl ].		VAR_059097
	Natural variant	2436	1	K → R. Corresponds to variant rs17132206 [ dbSNP | Ensembl ].		VAR_059098
	Natural variant	2537	1	S → A. Corresponds to variant rs17132208 [ dbSNP | Ensembl ].		VAR_059099
	Natural variant	2674	1	R → W. Corresponds to variant rs2222648 [ dbSNP | Ensembl ].		VAR_059100
	Natural variant	3142	1	A → V. Corresponds to variant rs3931814 [ dbSNP | Ensembl ].		VAR_059101
	Natural variant	3851	1	Y → F. Ref.4 Corresponds to variant rs17132289 [ dbSNP | Ensembl ].		VAR_059102
	Natural variant	4277	1	N → D. Corresponds to variant rs4917152 [ dbSNP | Ensembl ].		VAR_059103
	Natural variant	4302	1	Q → R. Corresponds to variant rs4917153 [ dbSNP | Ensembl ].		VAR_059104
	Natural variant	4335	1	P → A. Corresponds to variant rs17132370 [ dbSNP | Ensembl ].		VAR_059105
Experimental info
	Sequence conflict	1416	1	H → R in AAP13576. Ref.1
	Sequence conflict	2718	1	P → L in AAP13576. Ref.1
	Sequence conflict	2831	1	L → R in AAP13576. Ref.1
	Sequence conflict	2870	1	K → E in AAP13576. Ref.1
	Sequence conflict	3057	1	T → A in AAO59914. Ref.4
	Sequence conflict	4271	1	F → FS in AAO59914. Ref.4
	Sequence conflict	4446	1	K → E in AAP13576. Ref.1
	Sequence conflict	4446	1	K → E in AAO59914. Ref.4
	Sequence conflict	4584	1	L → P in AAP13576. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 5, 2011. Version 3. Checksum: B7F03D10101551E4	FASTA	5,058	576,159
	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
	Isoform 2 [UniParc]. Checksum: F24011161CF5FA8A	FASTA	317	36,920
	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 LNSSAELKEV 310 HMLDCFSHRW AFPGDWI
	Isoform 3 [UniParc]. Checksum: 735554315E7EECAF	FASTA	2,760	312,248
	10 20 30 40 50 60 MSFVPKDKIL EILKLDQFLT LMIQDRLMNI FSSLKETIYH LMKSSFILDN GEFYFDTHQG 70 80 90 100 110 120 LKFMQDLFNA LLRETSMKNK TENNIDFFTV VSQLFFHVNK SEDLFKLNQD LGSALHLVRE 130 140 150 160 170 180 CSTEMARLLD TILHSPNKDF YALYPTLQEV ILANLTDLLF FINNSFPLRN RATLEITKRL 190 200 210 220 230 240 VGAISRASEE SHVLKPLLEM SGTLVMLLND SADLRDLATS MDSIVKLLKL VKKVSGKMST 250 260 270 280 290 300 VFKTHFISNT KDSVKFFDTL YSIMQQSVQN LVKEIATLKK IDHFTFEKIN DLLVPFLDLA 310 320 330 340 350 360 FEMIGVEPYI SSNSDIFSMS PSILSYMNQS KDFSDILEEI AEFLTSVKMN LEDMRSLAVA 370 380 390 400 410 420 FNNETQTFSM DSVNLREEIL GCLVPINNIT NQMDFLYPNP ISTHSGPQDI KWEIIHEVIP 430 440 450 460 470 480 FLDKILSQNS TEIGSFLKMV ICLTLEALWK NLKKDNWNVS NVLMTFTQHP NNLLKTIETV 490 500 510 520 530 540 LEASSGIKSD YEGDLNKSLY FDTPLSQNIT HHQLEKAIHN VLSRIALWRK GLLFNNSEWI 550 560 570 580 590 600 TSTRTLFQPL FEIFIKATTG KNVTSEKEER TKKEMIDFPY SFKPFFCLEK YLGGLFVLTK 610 620 630 640 650 660 YWQQIPLTDQ SVVEICEVFQ QTVKPSEAME MLQKVKMMVV RVLTIVAENP SWTKDILCAT 670 680 690 700 710 720 LSCKQNGIRH LILSAIQGVT LAQDHFQEIE KIWSSPNQLN CESLSKNLSS TLESFKSSLE 730 740 750 760 770 780 NATGQDCTSQ PRLETVQQHL YMLAKSLEET WSSGNPIMTF LSNFTVTEDV KIKDLMKNIT 790 800 810 820 830 840 KLTEELRSSI QISNETIHSI LEANISHSKV LFSALTVALS GKCDQEILHL LLTFPKGEKS 850 860 870 880 890 900 WIAAEELCSL PGSKVYSLIV LLSRNLDVRA FIYKTLMPSE ANGLLNSLLD IVSSLSALLA 910 920 930 940 950 960 KAQHVFEYLP EFLHTFKITA LLETLDFQQV SQNVQARSSA FGSFQFVMKM VCKDQASFLS 970 980 990 1000 1010 1020 DSNMFINLPR VKELLEDDKE KFNIPEDSTP FCLKLYQEIL QLPNGALVWT FLKPILHGKI 1030 1040 1050 1060 1070 1080 LYTPNTPEIN KVIQKANYTF YIVDKLKTLS ETLLEMSSLF QRSGSGQMFN QLQEALRNKF 1090 1100 1110 1120 1130 1140 VRNFVENQLH IDVDKLTEKL QTYGGLLDEM FNHAGAGRFR FLGSILVNLS SCVALNRFQA 1150 1160 1170 1180 1190 1200 LQSVDILETK AHELLQQNSF LASIIFSNSL FDKNFRSESV KLPPHVSYTI RTNVLYSVRT 1210 1220 1230 1240 1250 1260 DVVKNPSWKF HPQNLPADGF KYNYVFAPLQ DMIERAIILV QTGQEALEPA AQTQAAPYPC 1270 1280 1290 1300 1310 1320 HTSDLFLNNV GFFFPLIMML TWMVSVASMV RKLVYEQEIQ IEEYMRMMGV HPVIHFLAWF 1330 1340 1350 1360 1370 1380 LENMAVLTIS SATLAIVLKT SGIFAHSNTF IVFLFLLDFG MSVVMLSYLL SAFFSQANTA 1390 1400 1410 1420 1430 1440 ALCTSLVYMI SFLPYIVLLV LHNQLSFVNQ TFLCLLSTTA FGQGVFFITF LEGQETGIQW 1450 1460 1470 1480 1490 1500 NNMYQALEQG GMTFGWVCWM ILFDSSLYFL CGWYLSNLIP GTFGLRKPWY FPFTASYWKS 1510 1520 1530 1540 1550 1560 VGFLVEKRQY FLSSSLFFFN ENFDNKGSSL QNREGELEGS APGVTLVSVT KEYEGHKAVV 1570 1580 1590 1600 1610 1620 QDLSLTFYRD QITALLGTNG AGKTTIISML TGLHPPTSGT IIINGKNLQT DLSRVRMELG 1630 1640 1650 1660 1670 1680 VCPQQDILLD NLTVREHLLL FASIKAPQWT KKELHQQVNQ TLQDVDLTQH QHKQTRALSG 1690 1700 1710 1720 1730 1740 GLKRKLSLGI AFMGMSRTVV LDEPTSGVDP CSRHSLWDIL LKYREGRTII FTTHHLDEAE 1750 1760 1770 1780 1790 1800 ALSDRVAVLQ HGRLRCCGPP FCLKEAYGQG LRLTLTRQPS VLEAHDLKDM ACVTSLIKIY 1810 1820 1830 1840 1850 1860 IPQAFLKDSS GSELTYTIPK DTDKACLKGL FQALDENLHQ LHLTGYGISD TTLEEVFLML 1870 1880 1890 1900 1910 1920 LQDSNKKSHI ALGTESELQN HRPTGHLSGY CGSLARPATV QGVQLLRAQV AAILARRLRR 1930 1940 1950 1960 1970 1980 TLRAGKSTLA DLLLPVLFVA LAMGLFMVRP LATEYPPLRL TPGHYQRAET YFFSSGGDNL 1990 2000 2010 2020 2030 2040 DLTRVLLRKF RDQDLPCADL NPRQKNSSCW RTDPFSHPEF QDSCGCLKCP NRSASAPYLT 2050 2060 2070 2080 2090 2100 NHLGHTLLNL SGFNMEEYLL APSEKPRLGG WSFGLKIPSE AGGANGNISK PPTLAKVWYN 2110 2120 2130 2140 2150 2160 QKGFHSLPSY LNHLNNLILW QHLPPTVDWR QYGITLYSHP YGGALLNKDK ILESIRQCGV 2170 2180 2190 2200 2210 2220 ALCIVLGFSI LSASIGSSVV RDRVIGAKRL QHISGLGYRM YWFTNFLYDM LFYLVSVCLC 2230 2240 2250 2260 2270 2280 VAVIVAFQLT AFTFRKNLAA TALLLSLFGY ATLPWMYLMS RIFSSSDVAF ISYVSLNFIF 2290 2300 2310 2320 2330 2340 GLCTMLITIM PRLLAIISKA KNLQNIYDVL KWVFTIFPQF CLGQGLVELC YNQIKYDLTH 2350 2360 2370 2380 2390 2400 NFGIDSYVSP FEMNFLGWIF VQLASQGTVL LLLRVLLHWD LLRWPRGHST LQGTVKSSKD 2410 2420 2430 2440 2450 2460 TDVEKEEKRV FEGRTNGDIL VLYNLSKHYR RFFQNIIAVQ DISLGIPKGE CFGLLGVNGA 2470 2480 2490 2500 2510 2520 GKSTTFKMLN GEVSLTSGHA IIRTPMGDAV DLSSAGTAGV LIGYCPQQDA LDELLTGWEH 2530 2540 2550 2560 2570 2580 LYYYCSLRGI PRQCIPEVAG DLIRRLHLEA HADKPVATYS GGTKRKLSTA LALVGKPDIL 2590 2600 2610 2620 2630 2640 LLDEPSSGMD PCSKRYLWQT IMKEVREGCA AVLTSHSMEE CEALCTRLAI MVNGSFKCLG 2650 2660 2670 2680 2690 2700 SPQHIKNRFG DGYTVKVWLC KEANQHCTVS DHLKLYFPGI QFKGQHLNLL EYHVPKRWGC 2710 2720 2730 2740 2750 2760 LADLFKVIEN NKTFLNIKHY SINQTTLEQV FINFASEQQQ TLQSTLDPST DSHHTHHLPI

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00328762. IPI00791517. IPI00795748.
RefSeq	NP_689914.2. NM_152701.3.
UniGene	Hs.226568.
3D structure databases
ProteinModelPortal	Q86UQ4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000411096.
PTM databases
PhosphoSite	Q86UQ4.
Polymorphism databases
DMDM	116242931.
Proteomic databases
PaxDb	Q86UQ4.
PRIDE	Q86UQ4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000417403; ENSP00000409268; ENSG00000179869. ENST00000435803; ENSP00000411096; ENSG00000179869.
GeneID	154664.
KEGG	hsa:154664.
UCSC	uc003top.2. human. uc003toq.2. human. uc010kys.1. human.
Organism-specific databases
CTD	154664.
GeneCards	GC07P048208.
H-InvDB	HIX0006678. HIX0033928.
HGNC	HGNC:14638. ABCA13.
HPA	HPA039914.
MIM	607807. gene.
neXtProt	NX_Q86UQ4.
PharmGKB	PA134925234.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000033760.
HOVERGEN	HBG080808.
InParanoid	Q86UQ4.
KO	K05647.
OMA	VMKMVCK.
OrthoDB	EOG4GF3D6.
Gene expression databases
ArrayExpress	Q86UQ4.
Bgee	Q86UQ4.
CleanEx	HS_ABCA13.
Genevestigator	Q86UQ4.
GermOnline	ENSG00000179869. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. [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. False negative. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ABCA13. human.
GenomeRNAi	154664.
NextBio	87290.
SOURCE	Search...

Entry information

Entry name

ABCAD_HUMAN

Accession

Primary (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 3, 2013
This is version 82 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.