Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q86UQ4 (ABCAD_HUMAN)

(max 400 entries)x

Your basket is currently empty. i

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

ATP-binding cassette sub-family A member 13

Gene

ABCA13

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi3875 – 3882ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi4754 – 4761ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000179869.14
HGNCiHGNC:14638 ABCA13
MIMi607807 gene
neXtProtiNX_Q86UQ4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei3568 – 3588HelicalSequence analysisAdd BLAST21
Transmembranei3607 – 3627HelicalSequence analysisAdd BLAST21
Transmembranei3648 – 3668HelicalSequence analysisAdd BLAST21
Transmembranei3679 – 3699HelicalSequence analysisAdd BLAST21
Transmembranei3709 – 3729HelicalSequence analysisAdd BLAST21
Transmembranei3752 – 3772HelicalSequence analysisAdd BLAST21
Transmembranei4226 – 4246HelicalSequence analysisAdd BLAST21
Transmembranei4458 – 4478HelicalSequence analysisAdd BLAST21
Transmembranei4504 – 4524HelicalSequence analysisAdd BLAST21
Transmembranei4536 – 4556HelicalSequence analysisAdd BLAST21
Transmembranei4568 – 4588HelicalSequence analysisAdd BLAST21
Transmembranei4607 – 4627HelicalSequence analysisAdd BLAST21
Transmembranei4651 – 4671HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi154664
OpenTargetsiENSG00000179869
PharmGKBiPA134925234

Polymorphism and mutation databases

BioMutaiABCA13
DMDMi327478592

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002535731 – 5058ATP-binding cassette sub-family A member 13Add BLAST5058

Proteomic databases

EPDiQ86UQ4
PaxDbiQ86UQ4
PeptideAtlasiQ86UQ4
PRIDEiQ86UQ4
ProteomicsDBi69861
69862 [Q86UQ4-2]
69863 [Q86UQ4-3]

PTM databases

CarbonylDBiQ86UQ4
iPTMnetiQ86UQ4
PhosphoSitePlusiQ86UQ4

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

BgeeiENSG00000179869
CleanExiHS_ABCA13
ExpressionAtlasiQ86UQ4 baseline and differential

Organism-specific databases

HPAiHPA063601

Interactioni

Protein-protein interaction databases

BioGridi127551, 6 interactors
IntActiQ86UQ4, 2 interactors
MINTiQ86UQ4
STRINGi9606.ENSP00000411096

Structurei

3D structure databases

ProteinModelPortaliQ86UQ4
SMRiQ86UQ4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini3842 – 4074ABC transporter 1PROSITE-ProRule annotationAdd BLAST233
Domaini4718 – 4956ABC transporter 2PROSITE-ProRule annotationAdd BLAST239

Sequence similaritiesi

Belongs to the ABC transporter superfamily.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000033760
HOVERGENiHBG080808
InParanoidiQ86UQ4
KOiK05647
PhylomeDBiQ86UQ4
TreeFamiTF105191

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR026082 ABCA
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

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

        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 BAC03623 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC86492 differs from that shown. Reason: Frameshift at position 156.Curated
The sequence BAC86492 differs from that shown. Reason: Erroneous termination at position 123. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1416H → R in AAP13576 (PubMed:12697998).Curated1
Sequence conflicti2718P → L in AAP13576 (PubMed:12697998).Curated1
Sequence conflicti2831L → R in AAP13576 (PubMed:12697998).Curated1
Sequence conflicti2870K → E in AAP13576 (PubMed:12697998).Curated1
Sequence conflicti3057T → A in AAO59914 (Ref. 5) Curated1
Sequence conflicti4446K → E in AAP13576 (PubMed:12697998).Curated1
Sequence conflicti4446K → E in AAO59914 (Ref. 5) Curated1
Sequence conflicti4584L → P in AAP13576 (PubMed:12697998).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059087506P → L. Corresponds to variant dbSNP:rs1880738Ensembl.1
Natural variantiVAR_059088555R → H. Corresponds to variant dbSNP:rs2361519Ensembl.1
Natural variantiVAR_059089767I → S. Corresponds to variant dbSNP:rs17712293Ensembl.1
Natural variantiVAR_059090799E → K. Corresponds to variant dbSNP:rs17547816Ensembl.1
Natural variantiVAR_0590911434I → V. Corresponds to variant dbSNP:rs17132195Ensembl.1
Natural variantiVAR_0554701508T → I. Corresponds to variant dbSNP:rs6583483Ensembl.1
Natural variantiVAR_0590921540F → L. Corresponds to variant dbSNP:rs17712299Ensembl.1
Natural variantiVAR_0590931889I → K. Corresponds to variant dbSNP:rs17132197Ensembl.1
Natural variantiVAR_0590942033N → D. Corresponds to variant dbSNP:rs17661364Ensembl.1
Natural variantiVAR_0590952154S → L. Corresponds to variant dbSNP:rs17092911Ensembl.1
Natural variantiVAR_0590962178A → E. Corresponds to variant dbSNP:rs1880736Ensembl.1
Natural variantiVAR_0590972212L → S. Corresponds to variant dbSNP:rs17132198Ensembl.1
Natural variantiVAR_0590982436K → R. Corresponds to variant dbSNP:rs17132206Ensembl.1
Natural variantiVAR_0590992537S → A. Corresponds to variant dbSNP:rs17132208Ensembl.1
Natural variantiVAR_0591002674R → W. Corresponds to variant dbSNP:rs2222648Ensembl.1
Natural variantiVAR_0591013142A → V. Corresponds to variant dbSNP:rs3931814Ensembl.1
Natural variantiVAR_0591023851Y → F1 PublicationCorresponds to variant dbSNP:rs17132289Ensembl.1
Natural variantiVAR_0591034277N → D. Corresponds to variant dbSNP:rs4917152Ensembl.1
Natural variantiVAR_0591044302Q → R. Corresponds to variant dbSNP:rs4917153Ensembl.1
Natural variantiVAR_0591054335P → A. Corresponds to variant dbSNP:rs17132370Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0546331 – 2736Missing in isoform 5, isoform 6 and isoform 7. 1 PublicationAdd BLAST2736
Alternative sequenceiVSP_0210681 – 2298Missing in isoform 3. CuratedAdd BLAST2298
Alternative sequenceiVSP_021069300 – 317IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_021070318 – 5058Missing in isoform 2. 1 PublicationAdd BLAST4741
Alternative sequenceiVSP_0546344271F → FS in isoform 4, isoform 5, isoform 6 and isoform 7. 2 Publications1
Alternative sequenceiVSP_0546354478 – 4508Missing in isoform 7. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0546364947 – 5058FGDGY…HHLPI → KLNKTN in isoform 6. 1 PublicationAdd BLAST112

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
KEGGihsa:154664
UCSCiuc064dot.1 human [Q86UQ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABCAD_HUMAN
AccessioniPrimary (citable) accession number: Q86UQ4
Secondary accession number(s): K9LC76
, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86WI2, Q8N248
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: April 5, 2011
Last modified: June 20, 2018
This is version 123 of the entry and version 3 of the sequence. See 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health