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O94911

- ABCA8_HUMAN

UniProt

O94911 - ABCA8_HUMAN

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Protein

ATP-binding cassette sub-family A member 8

Gene

ABCA8

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

Functioni

ATP-dependent lipophilic drug transporter.1 Publication

Kineticsi

  1. KM=30.4 µM for estradiol-beta-glucuronide1 Publication
  2. KM=0.1 µM for LTC41 Publication
  3. KM=10.3 µM for taurochlorate1 Publication
  4. KM=5.0 µM for PAH1 Publication
  5. KM=0.5 µM for estrone sulfate1 Publication
  6. KM=0.4 µM for ochratoxin A1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi516 – 5238ATP 1PROSITE-ProRule annotation
Nucleotide bindingi1283 – 12908ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: MGI
  2. ATP binding Source: UniProtKB-KW

GO - Biological processi

  1. transmembrane transport Source: Reactome
  2. transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15480. ABC-family proteins mediated transport.
SABIO-RKO94911.

Protein family/group databases

TCDBi3.A.1.211.6. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 8
Gene namesi
Name:ABCA8
Synonyms:KIAA0822
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:38. ABCA8.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Ensembl
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24383.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15811581ATP-binding cassette sub-family A member 8PRO_0000250677Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...)1 Publication
Glycosylationi243 – 2431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi555 – 5551N-linked (GlcNAc...)Sequence Analysis
Glycosylationi908 – 9081N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO94911.
PRIDEiO94911.

PTM databases

PhosphoSiteiO94911.

Expressioni

Tissue specificityi

Widely expressed with higher expression in heart, skeletal muscle and liver.1 Publication

Gene expression databases

BgeeiO94911.
CleanExiHS_ABCA8.
ExpressionAtlasiO94911. baseline and differential.
GenevestigatoriO94911.

Organism-specific databases

HPAiHPA044914.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000269080.

Structurei

3D structure databases

ProteinModelPortaliO94911.
SMRiO94911. Positions 439-715, 1240-1480.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5021HelicalSequence AnalysisAdd
BLAST
Transmembranei220 – 24021HelicalSequence AnalysisAdd
BLAST
Transmembranei268 – 28821HelicalSequence AnalysisAdd
BLAST
Transmembranei299 – 31921HelicalSequence AnalysisAdd
BLAST
Transmembranei327 – 34721HelicalSequence AnalysisAdd
BLAST
Transmembranei359 – 37921HelicalSequence AnalysisAdd
BLAST
Transmembranei397 – 41721HelicalSequence AnalysisAdd
BLAST
Transmembranei824 – 84421HelicalSequence AnalysisAdd
BLAST
Transmembranei979 – 99921HelicalSequence AnalysisAdd
BLAST
Transmembranei1030 – 105021HelicalSequence AnalysisAdd
BLAST
Transmembranei1066 – 108621HelicalSequence AnalysisAdd
BLAST
Transmembranei1096 – 111621HelicalSequence AnalysisAdd
BLAST
Transmembranei1121 – 114121HelicalSequence AnalysisAdd
BLAST
Transmembranei1157 – 117721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini480 – 675196ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini1245 – 1478234ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
GeneTreeiENSGT00760000118965.
HOVERGENiHBG079884.
InParanoidiO94911.
KOiK05650.
OMAiVQFVILT.
OrthoDBiEOG73Z2SB.
PhylomeDBiO94911.
TreeFamiTF105192.

Family and domain databases

Gene3Di3.40.50.300. 3 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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O94911-1) [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
MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS
60 70 80 90 100
HQVNDFSSLL TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA
110 120 130 140 150
GKEVLGLPDE ESIKEFTANY PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE
160 170 180 190 200
HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL QAAINAAIIE ITTNHSVMEE
210 220 230 240 250
LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA SVNVTRERKR
260 270 280 290 300
MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM
310 320 330 340 350
VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY
360 370 380 390 400
RHLPASLEWI LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA
410 420 430 440 450
TNFMLAFDTC LYLALAIYFE KILPNEYGHR RPPLFFLKSS FWSQTQKTDH
460 470 480 490 500
VALEDEMDAD PSFHDSFEQA PPEFQGKEAI RIRNVTKEYK GKPDKIEALK
510 520 530 540 550
DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV TIYNNKLSEM
560 570 580 590 600
ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIFLL
610 620 630 640 650
DEPTAGLDPF SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ
660 670 680 690 700
GKLKCAGSSL FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA
710 720 730 740 750
KSEGKLIYTL PLERTNKFPE LYKDLDSYPD LGIENYGVSM TTLNEVFLKL
760 770 780 790 800
EGKSTINESD IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL
810 820 830 840 850
WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS
860 870 880 890 900
YTWELSPHLY FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE
910 920 930 940 950
VDAFGTRNGT DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS
960 970 980 990 1000
NGLLGMVKPS VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA
1010 1020 1030 1040 1050
MSSIDDYKNR ARSQLRISGL SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI
1060 1070 1080 1090 1100
SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC
1110 1120 1130 1140 1150
FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF
1160 1170 1180 1190 1200
SEERMDVQPF LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR
1210 1220 1230 1240 1250
SSDVCQNPEE PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA
1260 1270 1280 1290 1300
GKRKGCFSKR KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT
1310 1320 1330 1340 1350
KPTAGQVLLK GSGGGDALEF LGYCPQENAL WPNLTVRQHL EVYAAVKGLR
1360 1370 1380 1390 1400
KGDAEVAITR LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL
1410 1420 1430 1440 1450
LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI
1460 1470 1480 1490 1500
MVSGRLRCIG SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA
1510 1520 1530 1540 1550
RQERYSSLMV YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV
1560 1570 1580
FLELSKEQEL GDFEEDFDPS VKWKLLPQEE P
Length:1,581
Mass (Da):179,245
Last modified:October 3, 2006 - v3
Checksum:i8BEB6F74B4130ACA
GO
Isoform 2 (identifier: O94911-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-1581: Missing.

Note: No experimental confirmation available.

Show »
Length:266
Mass (Da):30,788
Checksum:i45A0B73CEDC97079
GO
Isoform 3 (identifier: O94911-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     596-596: E → EIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQ

Note: No experimental confirmation available.

Show »
Length:1,621
Mass (Da):183,677
Checksum:iC50C8E2624BA4734
GO

Sequence cautioni

The sequence BAA74845.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti256 – 2561T → A.
Corresponds to variant rs16973446 [ dbSNP | Ensembl ].
VAR_027590
Natural varianti331 – 3311G → S.1 Publication
Corresponds to variant rs4147979 [ dbSNP | Ensembl ].
VAR_027591
Natural varianti416 – 4161A → V.1 Publication
Corresponds to variant rs35621847 [ dbSNP | Ensembl ].
VAR_048130
Natural varianti489 – 4891Y → F.
Corresponds to variant rs12150510 [ dbSNP | Ensembl ].
VAR_027592
Natural varianti619 – 6191L → R.
Corresponds to variant rs35844316 [ dbSNP | Ensembl ].
VAR_048131
Natural varianti680 – 6801C → G.
Corresponds to variant rs16973424 [ dbSNP | Ensembl ].
VAR_027593
Natural varianti1430 – 14301G → S.
Corresponds to variant rs35403175 [ dbSNP | Ensembl ].
VAR_048132

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei267 – 15811315Missing in isoform 2. 1 PublicationVSP_020703Add
BLAST
Alternative sequencei596 – 5961E → EIQRVLLELEMKNIQDVLAQ NLSGGQKRKLTFGIAILGDP Q in isoform 3. 1 PublicationVSP_053440

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB020629 mRNA. Translation: BAA74845.2. Different initiation.
AC005922 Genomic DNA. No translation available.
AC015844 Genomic DNA. No translation available.
BC024003 mRNA. Translation: AAH24003.1.
BC047765 mRNA. Translation: AAH47765.1.
BC094689 mRNA. Translation: AAH94689.1.
BC130280 mRNA. Translation: AAI30281.1.
CCDSiCCDS11680.1. [O94911-1]
CCDS74139.1. [O94911-3]
RefSeqiNP_001275914.1. NM_001288985.1. [O94911-3]
NP_001275915.1. NM_001288986.1.
NP_009099.1. NM_007168.3. [O94911-1]
XP_005256995.1. XM_005256938.1. [O94911-3]
UniGeneiHs.58351.

Genome annotation databases

EnsembliENST00000269080; ENSP00000269080; ENSG00000141338. [O94911-1]
ENST00000586539; ENSP00000467271; ENSG00000141338. [O94911-3]
GeneIDi10351.
KEGGihsa:10351.
UCSCiuc002jhp.3. human. [O94911-1]
uc002jhq.3. human.
uc002jhs.3. human. [O94911-2]

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
AB020629 mRNA. Translation: BAA74845.2 . Different initiation.
AC005922 Genomic DNA. No translation available.
AC015844 Genomic DNA. No translation available.
BC024003 mRNA. Translation: AAH24003.1 .
BC047765 mRNA. Translation: AAH47765.1 .
BC094689 mRNA. Translation: AAH94689.1 .
BC130280 mRNA. Translation: AAI30281.1 .
CCDSi CCDS11680.1. [O94911-1 ]
CCDS74139.1. [O94911-3 ]
RefSeqi NP_001275914.1. NM_001288985.1. [O94911-3 ]
NP_001275915.1. NM_001288986.1.
NP_009099.1. NM_007168.3. [O94911-1 ]
XP_005256995.1. XM_005256938.1. [O94911-3 ]
UniGenei Hs.58351.

3D structure databases

ProteinModelPortali O94911.
SMRi O94911. Positions 439-715, 1240-1480.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000269080.

Protein family/group databases

TCDBi 3.A.1.211.6. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei O94911.

Proteomic databases

PaxDbi O94911.
PRIDEi O94911.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269080 ; ENSP00000269080 ; ENSG00000141338 . [O94911-1 ]
ENST00000586539 ; ENSP00000467271 ; ENSG00000141338 . [O94911-3 ]
GeneIDi 10351.
KEGGi hsa:10351.
UCSCi uc002jhp.3. human. [O94911-1 ]
uc002jhq.3. human.
uc002jhs.3. human. [O94911-2 ]

Organism-specific databases

CTDi 10351.
GeneCardsi GC17M066863.
H-InvDB HIX0014119.
HIX0173681.
HGNCi HGNC:38. ABCA8.
HPAi HPA044914.
MIMi 612505. gene.
neXtProti NX_O94911.
PharmGKBi PA24383.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00760000118965.
HOVERGENi HBG079884.
InParanoidi O94911.
KOi K05650.
OMAi VQFVILT.
OrthoDBi EOG73Z2SB.
PhylomeDBi O94911.
TreeFami TF105192.

Enzyme and pathway databases

Reactomei REACT_15480. ABC-family proteins mediated transport.
SABIO-RK O94911.

Miscellaneous databases

ChiTaRSi ABCA8. human.
GeneWikii ABCA8.
GenomeRNAii 10351.
NextBioi 35460531.
PROi O94911.
SOURCEi Search...

Gene expression databases

Bgeei O94911.
CleanExi HS_ABCA8.
ExpressionAtlasi O94911. baseline and differential.
Genevestigatori O94911.

Family and domain databases

Gene3Di 3.40.50.300. 3 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. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. Ohara O., Suyama M., Kikuno R., Nagase T., Ishikawa K.
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT VAL-416.
    Tissue: Testis.
  5. Cited for: FUNCTION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-84.
    Tissue: Liver.
  7. "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
    Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
    J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-331.

Entry informationi

Entry nameiABCA8_HUMAN
AccessioniPrimary (citable) accession number: O94911
Secondary accession number(s): A1L3U3, C9JQE6, Q86WW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: October 29, 2014
This is version 118 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 17
    Human chromosome 17: 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