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Q86UQ4

- ABCAD_HUMAN

UniProt

Q86UQ4 - ABCAD_HUMAN

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Protein

ATP-binding cassette sub-family A member 13

Gene

ABCA13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi3875 – 38828ATP 1PROSITE-ProRule annotation
Nucleotide bindingi4754 – 47618ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: InterPro
  2. ATP binding Source: UniProtKB-KW

GO - Biological processi

  1. transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Protein family/group databases

TCDBi3.A.1.211.18. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 13
Gene namesi
Name:ABCA13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:14638. ABCA13.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134925234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 50585058ATP-binding cassette sub-family A member 13PRO_0000253573Add
BLAST

Proteomic databases

PaxDbiQ86UQ4.
PRIDEiQ86UQ4.

PTM databases

PhosphoSiteiQ86UQ4.

Expressioni

Tissue specificityi

Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts.2 Publications

Gene expression databases

BgeeiQ86UQ4.
CleanExiHS_ABCA13.
GenevestigatoriQ86UQ4.

Organism-specific databases

HPAiHPA039914.

Interactioni

Protein-protein interaction databases

BioGridi127551. 3 interactions.
STRINGi9606.ENSP00000411096.

Structurei

3D structure databases

ProteinModelPortaliQ86UQ4.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321HelicalSequence AnalysisAdd
BLAST
Transmembranei3568 – 358821HelicalSequence AnalysisAdd
BLAST
Transmembranei3607 – 362721HelicalSequence AnalysisAdd
BLAST
Transmembranei3648 – 366821HelicalSequence AnalysisAdd
BLAST
Transmembranei3679 – 369921HelicalSequence AnalysisAdd
BLAST
Transmembranei3709 – 372921HelicalSequence AnalysisAdd
BLAST
Transmembranei3752 – 377221HelicalSequence AnalysisAdd
BLAST
Transmembranei4226 – 424621HelicalSequence AnalysisAdd
BLAST
Transmembranei4458 – 447821HelicalSequence AnalysisAdd
BLAST
Transmembranei4504 – 452421HelicalSequence AnalysisAdd
BLAST
Transmembranei4536 – 455621HelicalSequence AnalysisAdd
BLAST
Transmembranei4568 – 458821HelicalSequence AnalysisAdd
BLAST
Transmembranei4607 – 462721HelicalSequence AnalysisAdd
BLAST
Transmembranei4651 – 467121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini3842 – 4074233ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini4718 – 4956239ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ABC transporter superfamily.Curated
Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000033760.
HOVERGENiHBG080808.
InParanoidiQ86UQ4.
OMAiSWLQMWT.
OrthoDBiEOG7P8P6W.
PhylomeDBiQ86UQ4.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86UQ4) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR
60 70 80 90 100
YRDICYLQPR DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF
110 120 130 140 150
QTAADPKKVN NLAFLKEIQD LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY
160 170 180 190 200
GSSFFTMDLN KTEEVILKLE SLHQQPHIWD FLLLLPRLHT SHDHVEDGMD
210 220 230 240 250
VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI STLTFLQQHG
260 270 280 290 300
VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI
310 320 330 340 350
PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR
360 370 380 390 400
VYQQVFVQWQ QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL
410 420 430 440 450
LLLNDSLSAD GPKDNHTFPK ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA
460 470 480 490 500
LRNAIAQNLH FVQEVLICLE TSANDFKWFE LNQLKLEKDV FFWELKQMLA
510 520 530 540 550
KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET SVLNKLLGSV
560 570 580 590 600
EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG
610 620 630 640 650
ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT
660 670 680 690 700
CEVAQYVNMQ ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS
710 720 730 740 750
PTASISRALN FTKHLLMMEK KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD
760 770 780 790 800
SSIVPSFHSL PSLTEDILNI SSLWTNHLKS LKRDPSATDA QKLLEFGNEV
810 820 830 840 850
IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY GISKGKRAKL
860 870 880 890 900
ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT
910 920 930 940 950
SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL
960 970 980 990 1000
NVFQDKDSAL LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK
1010 1020 1030 1040 1050
QFNFQNISKA FAFLFKTAEV LGGISNVSYC QQLLSIFNFL ELQAQSFMST
1060 1070 1080 1090 1100
EGQELEVIHT TLTGLKQLLI IDEDFRISLF QYMSQFFNSS VEDLLDNKCL
1110 1120 1130 1140 1150
ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK FMSIHCTVSW
1160 1170 1180 1190 1200
LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL
1210 1220 1230 1240 1250
PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL
1260 1270 1280 1290 1300
EQVEKSLFTM EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR
1310 1320 1330 1340 1350
NLDSINDFLS NNLTNYGEKF ENIITELREA IVFLRNVSHD RDLFSCADIF
1360 1370 1380 1390 1400
QNVTECILED GFLYVNTSQR MLRILDTLNS TFSSENTISS LKGCIVWLDV
1410 1420 1430 1440 1450
INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW VLNIKKPLCS
1460 1470 1480 1490 1500
SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV
1510 1520 1530 1540 1550
RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL
1560 1570 1580 1590 1600
GKEFQKLVKG IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL
1610 1620 1630 1640 1650
ASYLAFSLSH DLQNSPKIII SPEIMKATGL GIQLIRDVFN SLMPVVHHTS
1660 1670 1680 1690 1700
PQNAGYMQAL KKVTSVMRTL KKADIDLLVD QLEQVSVNLM DFFKNISSVG
1710 1720 1730 1740 1750
TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV DAVIDVYYVL
1760 1770 1780 1790 1800
PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD
1810 1820 1830 1840 1850
TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS
1860 1870 1880 1890 1900
FYGKVASILD HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL
1910 1920 1930 1940 1950
LELSEVFHVN ISLVKTVQKF WHKILPFVPP SINQTRDSIS ELCPSGSIKQ
1960 1970 1980 1990 2000
VALQIIEKLK NVNFTKVTSG ENILDKLSSL NKILNINEDT ETSVQNIISS
2010 2020 2030 2040 2050
NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE ALSSFIEKSE
2060 2070 2080 2090 2100
TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ
2110 2120 2130 2140 2150
FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT
2160 2170 2180 2190 2200
NESSTEDIAL LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV
2210 2220 2230 2240 2250
VQLLFENILI NLINNLAGNS QEAAWNLNDT DLQIMNFINL ILNHMQSETS
2260 2270 2280 2290 2300
RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS ENKISLLLKY FHKDVIAEMS
2310 2320 2330 2340 2350
FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM KSSFILDNGE
2360 2370 2380 2390 2400
FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE
2410 2420 2430 2440 2450
DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL
2460 2470 2480 2490 2500
ANLTDLLFFI NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG
2510 2520 2530 2540 2550
TLVMLLNDSA DLRDLATSMD SIVKLLKLVK KVSGKMSTVF KTHFISNTKD
2560 2570 2580 2590 2600
SVKFFDTLYS IMQQSVQNLV KEIATLKKID HFTFEKINDL LVPFLDLAFE
2610 2620 2630 2640 2650
MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE FLTSVKMNLE
2660 2670 2680 2690 2700
DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS
2710 2720 2730 2740 2750
THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL
2760 2770 2780 2790 2800
KKDNWNVSNV LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD
2810 2820 2830 2840 2850
TPLSQNITHH QLEKAIHNVL SRIALWRKGL LFNNSEWITS TRTLFQPLFE
2860 2870 2880 2890 2900
IFIKATTGKN VTSEKEERTK KEMIDFPYSF KPFFCLEKYL GGLFVLTKYW
2910 2920 2930 2940 2950
QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV LTIVAENPSW
2960 2970 2980 2990 3000
TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE
3010 3020 3030 3040 3050
SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS
3060 3070 3080 3090 3100
SGNPIMTFLS NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE
3110 3120 3130 3140 3150
ANISHSKVLF SALTVALSGK CDQEILHLLL TFPKGEKSWI AAEELCSLPG
3160 3170 3180 3190 3200
SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN GLLNSLLDIV SSLSALLAKA
3210 3220 3230 3240 3250
QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG SFQFVMKMVC
3260 3270 3280 3290 3300
KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL
3310 3320 3330 3340 3350
PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET
3360 3370 3380 3390 3400
LLEMSSLFQR SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT
3410 3420 3430 3440 3450
YGGLLDEMFN HAGAGRFRFL GSILVNLSSC VALNRFQALQ SVDILETKAH
3460 3470 3480 3490 3500
ELLQQNSFLA SIIFSNSLFD KNFRSESVKL PPHVSYTIRT NVLYSVRTDV
3510 3520 3530 3540 3550
VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT GQEALEPAAQ
3560 3570 3580 3590 3600
TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE
3610 3620 3630 3640 3650
EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV
3660 3670 3680 3690 3700
FLFLLDFGMS VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH
3710 3720 3730 3740 3750
NQLSFVNQTF LCLLSTTAFG QGVFFITFLE GQETGIQWNN MYQALEQGGM
3760 3770 3780 3790 3800
TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT FGLRKPWYFP FTASYWKSVG
3810 3820 3830 3840 3850
FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP GVTLVSVTKE
3860 3870 3880 3890 3900
YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII
3910 3920 3930 3940 3950
INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK
3960 3970 3980 3990 4000
ELHQQVNQTL QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD
4010 4020 4030 4040 4050
EPTSGVDPCS RHSLWDILLK YREGRTIIFT THHLDEAEAL SDRVAVLQHG
4060 4070 4080 4090 4100
RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL EAHDLKDMAC VTSLIKIYIP
4110 4120 4130 4140 4150
QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH LTGYGISDTT
4160 4170 4180 4190 4200
LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG
4210 4220 4230 4240 4250
VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA
4260 4270 4280 4290 4300
TEYPPLRLTP GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP
4310 4320 4330 4340 4350
RQKNSSCWRT DPFSHPEFQD SCGCLKCPNR SASAPYLTNH LGHTLLNLSG
4360 4370 4380 4390 4400
FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG GANGNISKPP TLAKVWYNQK
4410 4420 4430 4440 4450
GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG GALLNKDKIL
4460 4470 4480 4490 4500
ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW
4510 4520 4530 4540 4550
FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT
4560 4570 4580 4590 4600
LPWMYLMSRI FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN
4610 4620 4630 4640 4650
LQNIYDVLKW VFTIFPQFCL GQGLVELCYN QIKYDLTHNF GIDSYVSPFE
4660 4670 4680 4690 4700
MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL RWPRGHSTLQ GTVKSSKDTD
4710 4720 4730 4740 4750
VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI SLGIPKGECF
4760 4770 4780 4790 4800
GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI
4810 4820 4830 4840 4850
GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA
4860 4870 4880 4890 4900
DKPVATYSGG TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM
4910 4920 4930 4940 4950
KEVREGCAAV LTSHSMEECE ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG
4960 4970 4980 4990 5000
YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF KGQHLNLLEY HVPKRWGCLA
5010 5020 5030 5040 5050
DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL QSTLDPSTDS

HHTHHLPI
Length:5,058
Mass (Da):576,159
Last modified:April 5, 2011 - v3
Checksum:iB7F03D10101551E4
GO
Isoform 2 (identifier: Q86UQ4-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:317
Mass (Da):36,920
Checksum:iF24011161CF5FA8A
GO
Isoform 3 (identifier: Q86UQ4-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:2,760
Mass (Da):312,248
Checksum:i735554315E7EECAF
GO
Isoform 4 (identifier: Q86UQ4-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     4271-4271: F → FS

Show »
Length:5,059
Mass (Da):576,246
Checksum:iAD6C2E6EAD1F0D03
GO
Isoform 5 (identifier: Q86UQ4-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2736: Missing.
     4271-4271: F → FS

Show »
Length:2,323
Mass (Da):262,110
Checksum:i5AC6E1C991DAE6F8
GO
Isoform 6 (identifier: Q86UQ4-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2736: Missing.
     4271-4271: F → FS
     4947-5058: FGDGYTVKVW...DSHHTHHLPI → KLNKTN

Show »
Length:2,217
Mass (Da):249,791
Checksum:iD65BFACF1A75A257
GO
Isoform 7 (identifier: Q86UQ4-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2736: Missing.
     4271-4271: F → FS
     4478-4508: Missing.

Show »
Length:2,292
Mass (Da):258,321
Checksum:i80FFF7BE2C761A3F
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1416 – 14161H → R in AAP13576. (PubMed:12697998)Curated
Sequence conflicti2718 – 27181P → L in AAP13576. (PubMed:12697998)Curated
Sequence conflicti2831 – 28311L → R in AAP13576. (PubMed:12697998)Curated
Sequence conflicti2870 – 28701K → E in AAP13576. (PubMed:12697998)Curated
Sequence conflicti3057 – 30571T → A in AAO59914. 1 PublicationCurated
Sequence conflicti4446 – 44461K → E in AAP13576. (PubMed:12697998)Curated
Sequence conflicti4446 – 44461K → E in AAO59914. 1 PublicationCurated
Sequence conflicti4584 – 45841L → P in AAP13576. (PubMed:12697998)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti506 – 5061P → L.
Corresponds to variant rs1880738 [ dbSNP | Ensembl ].
VAR_059087
Natural varianti555 – 5551R → H.
Corresponds to variant rs2361519 [ dbSNP | Ensembl ].
VAR_059088
Natural varianti767 – 7671I → S.
Corresponds to variant rs17712293 [ dbSNP | Ensembl ].
VAR_059089
Natural varianti799 – 7991E → K.
Corresponds to variant rs17547816 [ dbSNP | Ensembl ].
VAR_059090
Natural varianti1434 – 14341I → V.
Corresponds to variant rs17132195 [ dbSNP | Ensembl ].
VAR_059091
Natural varianti1508 – 15081T → I.
Corresponds to variant rs6583483 [ dbSNP | Ensembl ].
VAR_055470
Natural varianti1540 – 15401F → L.
Corresponds to variant rs17712299 [ dbSNP | Ensembl ].
VAR_059092
Natural varianti1889 – 18891I → K.
Corresponds to variant rs17132197 [ dbSNP | Ensembl ].
VAR_059093
Natural varianti2033 – 20331N → D.
Corresponds to variant rs17661364 [ dbSNP | Ensembl ].
VAR_059094
Natural varianti2154 – 21541S → L.
Corresponds to variant rs17092911 [ dbSNP | Ensembl ].
VAR_059095
Natural varianti2178 – 21781A → E.
Corresponds to variant rs1880736 [ dbSNP | Ensembl ].
VAR_059096
Natural varianti2212 – 22121L → S.
Corresponds to variant rs17132198 [ dbSNP | Ensembl ].
VAR_059097
Natural varianti2436 – 24361K → R.
Corresponds to variant rs17132206 [ dbSNP | Ensembl ].
VAR_059098
Natural varianti2537 – 25371S → A.
Corresponds to variant rs17132208 [ dbSNP | Ensembl ].
VAR_059099
Natural varianti2674 – 26741R → W.
Corresponds to variant rs2222648 [ dbSNP | Ensembl ].
VAR_059100
Natural varianti3142 – 31421A → V.
Corresponds to variant rs3931814 [ dbSNP | Ensembl ].
VAR_059101
Natural varianti3851 – 38511Y → F.1 Publication
Corresponds to variant rs17132289 [ dbSNP | Ensembl ].
VAR_059102
Natural varianti4277 – 42771N → D.
Corresponds to variant rs4917152 [ dbSNP | Ensembl ].
VAR_059103
Natural varianti4302 – 43021Q → R.
Corresponds to variant rs4917153 [ dbSNP | Ensembl ].
VAR_059104
Natural varianti4335 – 43351P → A.
Corresponds to variant rs17132370 [ dbSNP | Ensembl ].
VAR_059105

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 27362736Missing in isoform 5, isoform 6 and isoform 7. 1 PublicationVSP_054633Add
BLAST
Alternative sequencei1 – 22982298Missing in isoform 3. CuratedVSP_021068Add
BLAST
Alternative sequencei300 – 31718IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2. 1 PublicationVSP_021069Add
BLAST
Alternative sequencei318 – 50584741Missing in isoform 2. 1 PublicationVSP_021070Add
BLAST
Alternative sequencei4271 – 42711F → FS in isoform 4, isoform 5, isoform 6 and isoform 7. 2 PublicationsVSP_054634
Alternative sequencei4478 – 450831Missing in isoform 7. 1 PublicationVSP_054635Add
BLAST
Alternative sequencei4947 – 5058112FGDGY…HHLPI → KLNKTN in isoform 6. 1 PublicationVSP_054636Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY204751 mRNA. Translation: AAP13576.1.
JF913488 mRNA. Translation: AFH89038.1.
JF913489 mRNA. Translation: AFH89039.1.
JF913490 mRNA. Translation: AFH89040.1.
JF913491 mRNA. Translation: AFH89041.1.
JF913492 mRNA. Translation: AFH89042.1.
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.
CCDSiCCDS47584.1. [Q86UQ4-1]
RefSeqiNP_689914.3. NM_152701.4.
UniGeneiHs.226568.
Hs.745575.

Genome annotation databases

EnsembliENST00000417403; ENSP00000409268; ENSG00000179869. [Q86UQ4-2]
GeneIDi154664.
UCSCiuc003top.2. human. [Q86UQ4-2]
uc003toq.2. human. [Q86UQ4-1]

Polymorphism databases

DMDMi327478592.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY204751 mRNA. Translation: AAP13576.1 .
JF913488 mRNA. Translation: AFH89038.1 .
JF913489 mRNA. Translation: AFH89039.1 .
JF913490 mRNA. Translation: AFH89040.1 .
JF913491 mRNA. Translation: AFH89041.1 .
JF913492 mRNA. Translation: AFH89042.1 .
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 .
CCDSi CCDS47584.1. [Q86UQ4-1 ]
RefSeqi NP_689914.3. NM_152701.4.
UniGenei Hs.226568.
Hs.745575.

3D structure databases

ProteinModelPortali Q86UQ4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127551. 3 interactions.
STRINGi 9606.ENSP00000411096.

Protein family/group databases

TCDBi 3.A.1.211.18. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q86UQ4.

Polymorphism databases

DMDMi 327478592.

Proteomic databases

PaxDbi Q86UQ4.
PRIDEi Q86UQ4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000417403 ; ENSP00000409268 ; ENSG00000179869 . [Q86UQ4-2 ]
GeneIDi 154664.
UCSCi uc003top.2. human. [Q86UQ4-2 ]
uc003toq.2. human. [Q86UQ4-1 ]

Organism-specific databases

CTDi 154664.
GeneCardsi GC07P048208.
H-InvDB HIX0006678.
HIX0033928.
HGNCi HGNC:14638. ABCA13.
HPAi HPA039914.
MIMi 607807. gene.
neXtProti NX_Q86UQ4.
PharmGKBi PA134925234.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00760000118965.
HOGENOMi HOG000033760.
HOVERGENi HBG080808.
InParanoidi Q86UQ4.
OMAi SWLQMWT.
OrthoDBi EOG7P8P6W.
PhylomeDBi Q86UQ4.
TreeFami TF105191.

Miscellaneous databases

ChiTaRSi ABCA13. human.
GeneWikii ABCA13.
NextBioi 87290.
PROi Q86UQ4.
SOURCEi Search...

Gene expression databases

Bgeei Q86UQ4.
CleanExi HS_ABCA13.
Genevestigatori Q86UQ4.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13."
    Maess M.B., Stolle K., Cullen P., Lorkowski S.
    Gene 515:298-307(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 6 AND 7), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
  3. "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.
  4. "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].
  5. "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 4), VARIANT PHE-3851.

Entry informationi

Entry nameiABCAD_HUMAN
AccessioniPrimary (citable) accession number: Q86UQ4
Secondary accession number(s): K9LC76
, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86WI2, Q8N248
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: April 5, 2011
Last modified: October 29, 2014
This is version 96 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3