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Q86UQ4

- ABCAD_HUMAN

UniProt

Q86UQ4 - ABCAD_HUMAN

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
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 3 (05 Apr 2011)
      Previous versions | rss
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    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

    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

    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.
    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.
    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.

    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]
    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

    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 1, 2014
    This is version 95 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