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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 1 Reviewed prediction
Nucleotide bindingi4754 – 47618ATP 2 Reviewed prediction

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

Topology

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

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

ArrayExpressiQ86UQ4.
BgeeiQ86UQ4.
CleanExiHS_ABCA13.
GenevestigatoriQ86UQ4.

Organism-specific databases

HPAiHPA039914.

Interactioni

Protein-protein interaction databases

BioGridi127551. 3 interactions.
STRINGi9606.ENSP00000411096.

Structurei

3D structure databases

ProteinModelPortaliQ86UQ4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini3842 – 4074233ABC transporter 1Add
BLAST
Domaini4718 – 4956239ABC transporter 2Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
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: Q86UQ4-1) [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

MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR     50
YRDICYLQPR DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF 100
QTAADPKKVN NLAFLKEIQD LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY 150
GSSFFTMDLN KTEEVILKLE SLHQQPHIWD FLLLLPRLHT SHDHVEDGMD 200
VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI STLTFLQQHG 250
VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI 300
PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR 350
VYQQVFVQWQ QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL 400
LLLNDSLSAD GPKDNHTFPK ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA 450
LRNAIAQNLH FVQEVLICLE TSANDFKWFE LNQLKLEKDV FFWELKQMLA 500
KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET SVLNKLLGSV 550
EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG 600
ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT 650
CEVAQYVNMQ ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS 700
PTASISRALN FTKHLLMMEK KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD 750
SSIVPSFHSL PSLTEDILNI SSLWTNHLKS LKRDPSATDA QKLLEFGNEV 800
IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY GISKGKRAKL 850
ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT 900
SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL 950
NVFQDKDSAL LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK 1000
QFNFQNISKA FAFLFKTAEV LGGISNVSYC QQLLSIFNFL ELQAQSFMST 1050
EGQELEVIHT TLTGLKQLLI IDEDFRISLF QYMSQFFNSS VEDLLDNKCL 1100
ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK FMSIHCTVSW 1150
LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL 1200
PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL 1250
EQVEKSLFTM EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR 1300
NLDSINDFLS NNLTNYGEKF ENIITELREA IVFLRNVSHD RDLFSCADIF 1350
QNVTECILED GFLYVNTSQR MLRILDTLNS TFSSENTISS LKGCIVWLDV 1400
INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW VLNIKKPLCS 1450
SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV 1500
RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL 1550
GKEFQKLVKG IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL 1600
ASYLAFSLSH DLQNSPKIII SPEIMKATGL GIQLIRDVFN SLMPVVHHTS 1650
PQNAGYMQAL KKVTSVMRTL KKADIDLLVD QLEQVSVNLM DFFKNISSVG 1700
TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV DAVIDVYYVL 1750
PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD 1800
TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS 1850
FYGKVASILD HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL 1900
LELSEVFHVN ISLVKTVQKF WHKILPFVPP SINQTRDSIS ELCPSGSIKQ 1950
VALQIIEKLK NVNFTKVTSG ENILDKLSSL NKILNINEDT ETSVQNIISS 2000
NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE ALSSFIEKSE 2050
TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ 2100
FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT 2150
NESSTEDIAL LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV 2200
VQLLFENILI NLINNLAGNS QEAAWNLNDT DLQIMNFINL ILNHMQSETS 2250
RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS ENKISLLLKY FHKDVIAEMS 2300
FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM KSSFILDNGE 2350
FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE 2400
DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL 2450
ANLTDLLFFI NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG 2500
TLVMLLNDSA DLRDLATSMD SIVKLLKLVK KVSGKMSTVF KTHFISNTKD 2550
SVKFFDTLYS IMQQSVQNLV KEIATLKKID HFTFEKINDL LVPFLDLAFE 2600
MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE FLTSVKMNLE 2650
DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS 2700
THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL 2750
KKDNWNVSNV LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD 2800
TPLSQNITHH QLEKAIHNVL SRIALWRKGL LFNNSEWITS TRTLFQPLFE 2850
IFIKATTGKN VTSEKEERTK KEMIDFPYSF KPFFCLEKYL GGLFVLTKYW 2900
QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV LTIVAENPSW 2950
TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE 3000
SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS 3050
SGNPIMTFLS NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE 3100
ANISHSKVLF SALTVALSGK CDQEILHLLL TFPKGEKSWI AAEELCSLPG 3150
SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN GLLNSLLDIV SSLSALLAKA 3200
QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG SFQFVMKMVC 3250
KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL 3300
PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET 3350
LLEMSSLFQR SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT 3400
YGGLLDEMFN HAGAGRFRFL GSILVNLSSC VALNRFQALQ SVDILETKAH 3450
ELLQQNSFLA SIIFSNSLFD KNFRSESVKL PPHVSYTIRT NVLYSVRTDV 3500
VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT GQEALEPAAQ 3550
TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE 3600
EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV 3650
FLFLLDFGMS VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH 3700
NQLSFVNQTF LCLLSTTAFG QGVFFITFLE GQETGIQWNN MYQALEQGGM 3750
TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT FGLRKPWYFP FTASYWKSVG 3800
FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP GVTLVSVTKE 3850
YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII 3900
INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK 3950
ELHQQVNQTL QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD 4000
EPTSGVDPCS RHSLWDILLK YREGRTIIFT THHLDEAEAL SDRVAVLQHG 4050
RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL EAHDLKDMAC VTSLIKIYIP 4100
QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH LTGYGISDTT 4150
LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG 4200
VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA 4250
TEYPPLRLTP GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP 4300
RQKNSSCWRT DPFSHPEFQD SCGCLKCPNR SASAPYLTNH LGHTLLNLSG 4350
FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG GANGNISKPP TLAKVWYNQK 4400
GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG GALLNKDKIL 4450
ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW 4500
FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT 4550
LPWMYLMSRI FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN 4600
LQNIYDVLKW VFTIFPQFCL GQGLVELCYN QIKYDLTHNF GIDSYVSPFE 4650
MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL RWPRGHSTLQ GTVKSSKDTD 4700
VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI SLGIPKGECF 4750
GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI 4800
GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA 4850
DKPVATYSGG TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM 4900
KEVREGCAAV LTSHSMEECE ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG 4950
YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF KGQHLNLLEY HVPKRWGCLA 5000
DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL QSTLDPSTDS 5050
HHTHHLPI 5058
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.

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. VSP_054633Add
BLAST
Alternative sequencei1 – 22982298Missing in isoform 3. VSP_021068Add
BLAST
Alternative sequencei300 – 31718IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2. VSP_021069Add
BLAST
Alternative sequencei318 – 50584741Missing in isoform 2. VSP_021070Add
BLAST
Alternative sequencei4271 – 42711F → FS in isoform 4, isoform 5, isoform 6 and isoform 7. VSP_054634
Alternative sequencei4478 – 450831Missing in isoform 7. VSP_054635Add
BLAST
Alternative sequencei4947 – 5058112FGDGY…HHLPI → KLNKTN in isoform 6. VSP_054636Add
BLAST

Sequence conflict

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

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]
ENST00000435803; ENSP00000411096; ENSG00000179869. [Q86UQ4-1]
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 ]
ENST00000435803 ; ENSP00000411096 ; ENSG00000179869 . [Q86UQ4-1 ]
GeneIDi 154664.
UCSCi uc003top.2. human. [Q86UQ4-2 ]
uc003toq.2. human. [Q86UQ4-1 ]

Organism-specific databases

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.
HOGENOMi HOG000033760.
HOVERGENi HBG080808.
InParanoidi Q86UQ4.
OMAi SWLQMWT.
OrthoDBi EOG7P8P6W.
PhylomeDBi Q86UQ4.
TreeFami TF105191.

Miscellaneous databases

ChiTaRSi ABCA13. human.
GeneWikii ABCA13.
GenomeRNAii 154664.
NextBioi 87290.
PROi Q86UQ4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86UQ4.
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: September 3, 2014
This is version 94 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

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