UniProtKB - Q86UQ4 (ABCAD_HUMAN)
Protein
ATP-binding cassette sub-family A member 13
Gene
ABCA13
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 3875 – 3882 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 4754 – 4761 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- lipid transporter activity Source: GO_Central
GO - Biological processi
- lipid transport Source: GO_Central
- neutrophil degranulation Source: Reactome
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q86UQ4 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Protein family/group databases
TCDBi | 3.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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000179869.14 |
HGNCi | HGNC:14638, ABCA13 |
MIMi | 607807, gene |
neXtProti | NX_Q86UQ4 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Lysosome
- azurophil granule membrane Source: Reactome
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: GO_Central
- secretory granule membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 23 – 43 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3568 – 3588 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3607 – 3627 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3648 – 3668 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3679 – 3699 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3709 – 3729 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 3752 – 3772 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4226 – 4246 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4458 – 4478 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4504 – 4524 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4536 – 4556 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4568 – 4588 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4607 – 4627 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4651 – 4671 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 154664 |
OpenTargetsi | ENSG00000179869 |
PharmGKBi | PA134925234 |
Miscellaneous databases
Pharosi | Q86UQ4, Tbio |
Polymorphism and mutation databases
BioMutai | ABCA13 |
DMDMi | 327478592 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000253573 | 1 – 5058 | ATP-binding cassette sub-family A member 13Add BLAST | 5058 |
Proteomic databases
EPDi | Q86UQ4 |
jPOSTi | Q86UQ4 |
MassIVEi | Q86UQ4 |
PaxDbi | Q86UQ4 |
PeptideAtlasi | Q86UQ4 |
PRIDEi | Q86UQ4 |
ProteomicsDBi | 69861 [Q86UQ4-1] 69862 [Q86UQ4-2] 69863 [Q86UQ4-3] |
PTM databases
CarbonylDBi | Q86UQ4 |
iPTMneti | Q86UQ4 |
PhosphoSitePlusi | Q86UQ4 |
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
Bgeei | ENSG00000179869, Expressed in bronchial epithelial cell and 103 other tissues |
ExpressionAtlasi | Q86UQ4, baseline and differential |
Interactioni
Protein-protein interaction databases
BioGRIDi | 127551, 7 interactors |
IntActi | Q86UQ4, 4 interactors |
MINTi | Q86UQ4 |
STRINGi | 9606.ENSP00000411096 |
Miscellaneous databases
RNActi | Q86UQ4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 3842 – 4074 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 233 | |
Domaini | 4718 – 4956 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 239 |
Sequence similaritiesi
Belongs to the ABC transporter superfamily.Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000161703 |
HOGENOMi | CLU_076113_0_0_1 |
InParanoidi | Q86UQ4 |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q86UQ4 |
TreeFami | TF105191 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 3 hits |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS50893, ABC_TRANSPORTER_2, 2 hits |
s (7+)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86UQ4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MT16 | A0A0A0MT16_HUMAN | ATP-binding cassette sub-family A m... | ABCA13 | 5,058 | Annotation score: | ||
F5H7B7 | F5H7B7_HUMAN | ATP-binding cassette sub-family A m... | ABCA13 | 2,366 | Annotation score: | ||
H0Y4D2 | H0Y4D2_HUMAN | ATP-binding cassette sub-family A m... | ABCA13 | 831 | Annotation score: | ||
H7C0U5 | H7C0U5_HUMAN | ATP-binding cassette sub-family A m... | ABCA13 | 1,192 | Annotation score: | ||
H7BZI9 | H7BZI9_HUMAN | ATP-binding cassette sub-family A m... | ABCA13 | 155 | Annotation score: |
Sequence cautioni
The sequence BAC03623 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC86492 differs from that shown. Reason: Frameshift.Curated
The sequence BAC86492 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1416 | H → R in AAP13576 (PubMed:12697998).Curated | 1 | |
Sequence conflicti | 2718 | P → L in AAP13576 (PubMed:12697998).Curated | 1 | |
Sequence conflicti | 2831 | L → R in AAP13576 (PubMed:12697998).Curated | 1 | |
Sequence conflicti | 2870 | K → E in AAP13576 (PubMed:12697998).Curated | 1 | |
Sequence conflicti | 3057 | T → A in AAO59914 (Ref. 5) Curated | 1 | |
Sequence conflicti | 4446 | K → E in AAP13576 (PubMed:12697998).Curated | 1 | |
Sequence conflicti | 4446 | K → E in AAO59914 (Ref. 5) Curated | 1 | |
Sequence conflicti | 4584 | L → P in AAP13576 (PubMed:12697998).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059087 | 506 | P → L. Corresponds to variant dbSNP:rs1880738Ensembl. | 1 | |
Natural variantiVAR_059088 | 555 | R → H. Corresponds to variant dbSNP:rs2361519Ensembl. | 1 | |
Natural variantiVAR_059089 | 767 | I → S. Corresponds to variant dbSNP:rs17712293Ensembl. | 1 | |
Natural variantiVAR_059090 | 799 | E → K. Corresponds to variant dbSNP:rs17547816Ensembl. | 1 | |
Natural variantiVAR_059091 | 1434 | I → V. Corresponds to variant dbSNP:rs17132195Ensembl. | 1 | |
Natural variantiVAR_055470 | 1508 | T → I. Corresponds to variant dbSNP:rs6583483Ensembl. | 1 | |
Natural variantiVAR_059092 | 1540 | F → L. Corresponds to variant dbSNP:rs17712299Ensembl. | 1 | |
Natural variantiVAR_059093 | 1889 | I → K. Corresponds to variant dbSNP:rs17132197Ensembl. | 1 | |
Natural variantiVAR_059094 | 2033 | N → D. Corresponds to variant dbSNP:rs17661364Ensembl. | 1 | |
Natural variantiVAR_059095 | 2154 | S → L. Corresponds to variant dbSNP:rs17092911Ensembl. | 1 | |
Natural variantiVAR_059096 | 2178 | A → E. Corresponds to variant dbSNP:rs1880736Ensembl. | 1 | |
Natural variantiVAR_059097 | 2212 | L → S. Corresponds to variant dbSNP:rs17132198Ensembl. | 1 | |
Natural variantiVAR_059098 | 2436 | K → R. Corresponds to variant dbSNP:rs17132206Ensembl. | 1 | |
Natural variantiVAR_059099 | 2537 | S → A. Corresponds to variant dbSNP:rs17132208Ensembl. | 1 | |
Natural variantiVAR_059100 | 2674 | R → W. Corresponds to variant dbSNP:rs2222648Ensembl. | 1 | |
Natural variantiVAR_059101 | 3142 | A → V. Corresponds to variant dbSNP:rs3931814Ensembl. | 1 | |
Natural variantiVAR_059102 | 3851 | Y → F1 PublicationCorresponds to variant dbSNP:rs17132289Ensembl. | 1 | |
Natural variantiVAR_059103 | 4277 | N → D. Corresponds to variant dbSNP:rs4917152Ensembl. | 1 | |
Natural variantiVAR_059104 | 4302 | Q → R. Corresponds to variant dbSNP:rs4917153Ensembl. | 1 | |
Natural variantiVAR_059105 | 4335 | P → A. Corresponds to variant dbSNP:rs17132370EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054633 | 1 – 2736 | Missing in isoform 5, isoform 6 and isoform 7. 1 PublicationAdd BLAST | 2736 | |
Alternative sequenceiVSP_021068 | 1 – 2298 | Missing in isoform 3. CuratedAdd BLAST | 2298 | |
Alternative sequenceiVSP_021069 | 300 – 317 | IPTDT…VLSST → VHMLDCFSHRWAFPGDWI in isoform 2. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_021070 | 318 – 5058 | Missing in isoform 2. 1 PublicationAdd BLAST | 4741 | |
Alternative sequenceiVSP_054634 | 4271 | F → FS in isoform 4, isoform 5, isoform 6 and isoform 7. 2 Publications | 1 | |
Alternative sequenceiVSP_054635 | 4478 – 4508 | Missing in isoform 7. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_054636 | 4947 – 5058 | FGDGY…HHLPI → KLNKTN in isoform 6. 1 PublicationAdd BLAST | 112 |
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 |
CCDSi | CCDS47584.1 [Q86UQ4-1] |
RefSeqi | NP_689914.3, NM_152701.4 |
Genome annotation databases
Ensembli | ENST00000417403; ENSP00000409268; ENSG00000179869 [Q86UQ4-2] |
GeneIDi | 154664 |
KEGGi | hsa:154664 |
UCSCi | uc064dot.1, human [Q86UQ4-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
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 |
CCDSi | CCDS47584.1 [Q86UQ4-1] |
RefSeqi | NP_689914.3, NM_152701.4 |
3D structure databases
SMRi | Q86UQ4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127551, 7 interactors |
IntActi | Q86UQ4, 4 interactors |
MINTi | Q86UQ4 |
STRINGi | 9606.ENSP00000411096 |
Protein family/group databases
TCDBi | 3.A.1.211.18, the atp-binding cassette (abc) superfamily |
PTM databases
CarbonylDBi | Q86UQ4 |
iPTMneti | Q86UQ4 |
PhosphoSitePlusi | Q86UQ4 |
Polymorphism and mutation databases
BioMutai | ABCA13 |
DMDMi | 327478592 |
Proteomic databases
EPDi | Q86UQ4 |
jPOSTi | Q86UQ4 |
MassIVEi | Q86UQ4 |
PaxDbi | Q86UQ4 |
PeptideAtlasi | Q86UQ4 |
PRIDEi | Q86UQ4 |
ProteomicsDBi | 69861 [Q86UQ4-1] 69862 [Q86UQ4-2] 69863 [Q86UQ4-3] |
Genome annotation databases
Ensembli | ENST00000417403; ENSP00000409268; ENSG00000179869 [Q86UQ4-2] |
GeneIDi | 154664 |
KEGGi | hsa:154664 |
UCSCi | uc064dot.1, human [Q86UQ4-1] |
Organism-specific databases
CTDi | 154664 |
DisGeNETi | 154664 |
EuPathDBi | HostDB:ENSG00000179869.14 |
GeneCardsi | ABCA13 |
HGNCi | HGNC:14638, ABCA13 |
MIMi | 607807, gene |
neXtProti | NX_Q86UQ4 |
OpenTargetsi | ENSG00000179869 |
PharmGKBi | PA134925234 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000161703 |
HOGENOMi | CLU_076113_0_0_1 |
InParanoidi | Q86UQ4 |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q86UQ4 |
TreeFami | TF105191 |
Enzyme and pathway databases
PathwayCommonsi | Q86UQ4 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Miscellaneous databases
BioGRID-ORCSi | 154664, 4 hits in 844 CRISPR screens |
ChiTaRSi | ABCA13, human |
GeneWikii | ABCA13 |
GenomeRNAii | 154664 |
Pharosi | Q86UQ4, Tbio |
PROi | PR:Q86UQ4 |
RNActi | Q86UQ4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000179869, Expressed in bronchial epithelial cell and 103 other tissues |
ExpressionAtlasi | Q86UQ4, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 3 hits |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS50893, ABC_TRANSPORTER_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCAD_HUMAN | |
Accessioni | Q86UQ4Primary (citable) accession number: Q86UQ4 Secondary accession number(s): K9LC76 Q8N248 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | April 5, 2011 | |
Last modified: | December 2, 2020 | |
This is version 139 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations