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Q8IZY2

- ABCA7_HUMAN

UniProt

Q8IZY2 - ABCA7_HUMAN

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Protein

ATP-binding cassette sub-family A member 7

Gene

ABCA7

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

Functioni

Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi841 – 8488ATP 1PROSITE-ProRule annotation
Nucleotide bindingi1827 – 18348ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. apolipoprotein A-I receptor activity Source: Alzheimers_University_of_Toronto
  2. ATPase activity Source: InterPro
  3. ATP binding Source: ProtInc
  4. phospholipid transporter activity Source: Ensembl
  5. transporter activity Source: ProtInc

GO - Biological processi

  1. apolipoprotein A-I-mediated signaling pathway Source: Alzheimers_University_of_Toronto
  2. ATP catabolic process Source: GOC
  3. cholesterol efflux Source: Alzheimers_University_of_Toronto
  4. high-density lipoprotein particle assembly Source: Alzheimers_University_of_Toronto
  5. memory Source: Alzheimers_University_of_Toronto
  6. negative regulation of amyloid precursor protein biosynthetic process Source: Alzheimers_University_of_Toronto
  7. negative regulation of ATPase activity Source: Alzheimers_University_of_Toronto
  8. negative regulation of beta-amyloid formation Source: Alzheimers_University_of_Toronto
  9. peptide cross-linking Source: Alzheimers_University_of_Toronto
  10. phagocytosis Source: UniProtKB-KW
  11. phospholipid efflux Source: Alzheimers_University_of_Toronto
  12. phospholipid scrambling Source: Alzheimers_University_of_Toronto
  13. positive regulation of ATPase activity Source: Alzheimers_University_of_Toronto
  14. positive regulation of beta-amyloid clearance Source: Alzheimers_University_of_Toronto
  15. positive regulation of cholesterol efflux Source: Alzheimers_University_of_Toronto
  16. positive regulation of engulfment of apoptotic cell Source: Alzheimers_University_of_Toronto
  17. positive regulation of ERK1 and ERK2 cascade Source: Alzheimers_University_of_Toronto
  18. positive regulation of phagocytosis Source: Alzheimers_University_of_Toronto
  19. positive regulation of phospholipid efflux Source: Alzheimers_University_of_Toronto
  20. protein localization to nucleus Source: Alzheimers_University_of_Toronto
  21. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Phagocytosis, Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

Protein family/group databases

TCDBi3.A.1.211.10. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 7
Alternative name(s):
ABCA-SSN
Autoantigen SS-N
Macrophage ABC transporter
Gene namesi
Name:ABCA7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:37. ABCA7.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein
Note: Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney. Isoform 2 may localize to the endoplasmic reticulum.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence AnalysisAdd
BLAST
Topological domaini43 – 549507ExtracellularBy similarityAdd
BLAST
Transmembranei550 – 57021HelicalSequence AnalysisAdd
BLAST
Transmembranei593 – 61321HelicalSequence AnalysisAdd
BLAST
Transmembranei626 – 64621HelicalSequence AnalysisAdd
BLAST
Transmembranei655 – 67521HelicalSequence AnalysisAdd
BLAST
Transmembranei687 – 70721HelicalSequence AnalysisAdd
BLAST
Transmembranei727 – 74721HelicalSequence AnalysisAdd
BLAST
Transmembranei849 – 86921HelicalSequence AnalysisAdd
BLAST
Transmembranei1243 – 126321HelicalSequence AnalysisAdd
BLAST
Topological domaini1264 – 1537274ExtracellularBy similarityAdd
BLAST
Transmembranei1538 – 155821HelicalSequence AnalysisAdd
BLAST
Transmembranei1584 – 160421HelicalSequence AnalysisAdd
BLAST
Transmembranei1621 – 164121HelicalSequence AnalysisAdd
BLAST
Transmembranei1649 – 166921HelicalSequence AnalysisAdd
BLAST
Transmembranei1683 – 170321HelicalSequence AnalysisAdd
BLAST
Transmembranei1729 – 174921HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. ATP-binding cassette (ABC) transporter complex Source: ProtInc
  3. cell surface Source: Alzheimers_University_of_Toronto
  4. cytoplasm Source: HPA
  5. endosome Source: UniProtKB-KW
  6. Golgi apparatus Source: HPA
  7. integral component of membrane Source: ProtInc
  8. phagocytic cup Source: Alzheimers_University_of_Toronto
  9. plasma membrane Source: Alzheimers_University_of_Toronto
  10. ruffle membrane Source: Alzheimers_University_of_Toronto
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24382.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 21462146ATP-binding cassette sub-family A member 7PRO_0000250674Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi75 ↔ 225By similarity
Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1345 ↔ 1359By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ8IZY2.
PaxDbiQ8IZY2.
PRIDEiQ8IZY2.

PTM databases

PhosphoSiteiQ8IZY2.

Expressioni

Tissue specificityi

Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow.3 Publications

Developmental stagei

Expressed in fetal tissues. Strongly expressed in fetal liver.2 Publications

Inductioni

Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.2 Publications

Gene expression databases

BgeeiQ8IZY2.
CleanExiHS_ABCA7.
ExpressionAtlasiQ8IZY2. baseline and differential.
GenevestigatoriQ8IZY2.

Organism-specific databases

HPAiHPA041564.

Interactioni

Protein-protein interaction databases

BioGridi115629. 1 interaction.
IntActiQ8IZY2. 1 interaction.
STRINGi9606.ENSP00000263094.

Structurei

3D structure databases

ProteinModelPortaliQ8IZY2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini807 – 1038232ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini1793 – 2025233ABC 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.
HOGENOMiHOG000231547.
HOVERGENiHBG050436.
InParanoidiQ8IZY2.
KOiK05645.
OMAiVRIKIRM.
OrthoDBiEOG78D7J6.
PhylomeDBiQ8IZY2.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
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.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IZY2-1) [UniParc]FASTAAdd to Basket

Also known as: Type 1

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
MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE
60 70 80 90 100
HHECHFPNKP LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS
110 120 130 140 150
LVSRLLADAR TVLGGASAHR TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE
160 170 180 190 200
PPMLDVAELL TSLLRTESLG LALGQAQEPL HSLLEAAEDL AQELLALRSL
210 220 230 240 250
VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW YEASDLMELV
260 270 280 290 300
GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD
310 320 330 340 350
TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR
360 370 380 390 400
LLQMQDEGRR QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL
410 420 430 440 450
GRVTECLSLD KLEAAPSEAA LVSRALQLLA EHRFWAGVVF LGPEDSSDPT
460 470 480 490 500
EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR DRFWDPGPAA DPLTDLRYVW
510 520 530 540 550
GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD VFLRVLSRSL
560 570 580 590 600
PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL
610 620 630 640 650
GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF
660 670 680 690 700
SRANLAAACG GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG
710 720 730 740 750
CESLALLEEQ GEGAQWHNVG TRPTADVFSL AQVSGLLLLD AALYGLATWY
760 770 780 790 800
LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP KSPAPCPTPL DPKVLVEEAP
810 820 830 840 850
PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL GHNGAGKTTT
860 870 880 890 900
LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE
910 920 930 940 950
HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV
960 970 980 990 1000
AIAFVGGSQV VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE
1010 1020 1030 1040 1050
AELLGDRVAV VAGGRLCCCG SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA
1060 1070 1080 1090 1100
DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA LVQHWVPGAR LVEELPHELV
1110 1120 1130 1140 1150
LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE EIFLKVVEEC
1160 1170 1180 1190 1200
AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD
1210 1220 1230 1240 1250
QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV
1260 1270 1280 1290 1300
GLALVFSLIV PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL
1310 1320 1330 1340 1350
LQEAGLEEPP VQHSSHRFSA PEVPAEVAKV LASGNWTPES PSPACQCSRP
1360 1370 1380 1390 1400
GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ NLTGRNLSDF LVKTYPRLVR
1410 1420 1430 1440 1450
QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW ALLSPLPGGA
1460 1470 1480 1490 1500
LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP
1510 1520 1530 1540 1550
PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP
1560 1570 1580 1590 1600
ASFTLVLIEE RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL
1610 1620 1630 1640 1650
IFLAFQQRAY VAPANLPALL LLLLLYGWSI TPLMYPASFF FSVPSTAYVV
1660 1670 1680 1690 1700
LTCINLFIGI NGSMATFVLE LFSDQKLQEV SRILKQVFLI FPHFCLGRGL
1710 1720 1730 1740 1750
IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ GPLFLLFTLL
1760 1770 1780 1790 1800
LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK
1810 1820 1830 1840 1850
VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE
1860 1870 1880 1890 1900
AVLAGHSVAR EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA
1910 1920 1930 1940 1950
QVAQTAGSGL ARLGLSWYAD RPAGTYSGGN KRKLATALAL VGDPAVVFLD
1960 1970 1980 1990 2000
EPTTGMDPSA RRFLWNSLLA VVREGRSVML TSHSMEECEA LCSRLAIMVN
2010 2020 2030 2040 2050
GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA EFPGAELREA
2060 2070 2080 2090 2100
HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF
2110 2120 2130 2140
SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL
Length:2,146
Mass (Da):234,350
Last modified:December 4, 2007 - v3
Checksum:i6EA624088E74FEE6
GO
Isoform 2 (identifier: Q8IZY2-2) [UniParc]FASTAAdd to Basket

Also known as: Type 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.
     139-166: AQPQPTKQSPLEPPMLDVAELLTSLLRT → MVCLGTGQSAGPLVSVQNHCPPCGLSPQ

Note: Inactive for apoA-I-mediated lipid release.

Show »
Length:2,008
Mass (Da):218,497
Checksum:i2B52CABF87220A7B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1503 – 15031P → R in AAF85794. (PubMed:10873640)Curated
Sequence conflicti1503 – 15031P → R in BAB62294. (PubMed:11355874)Curated
Sequence conflicti1525 – 15251S → F in AAF85794. (PubMed:10873640)Curated
Sequence conflicti1525 – 15251S → F in AAN04657. (PubMed:11095984)Curated
Sequence conflicti1525 – 15251S → F in BAB62294. (PubMed:11355874)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti188 – 1881E → G.2 Publications
Corresponds to variant rs3764645 [ dbSNP | Ensembl ].
VAR_027581
Natural varianti319 – 3191T → A.1 Publication
Corresponds to variant rs3752232 [ dbSNP | Ensembl ].
VAR_027582
Natural varianti395 – 3951H → R.1 Publication
Corresponds to variant rs3764647 [ dbSNP | Ensembl ].
VAR_027583
Natural varianti463 – 4631R → H.1 Publication
Corresponds to variant rs3752233 [ dbSNP | Ensembl ].
VAR_027584
Natural varianti676 – 6761A → T.
Corresponds to variant rs59851484 [ dbSNP | Ensembl ].
VAR_060985
Natural varianti718 – 7181N → T.1 Publication
Corresponds to variant rs3752239 [ dbSNP | Ensembl ].
VAR_027585
Natural varianti1349 – 13491R → Q.3 Publications
Corresponds to variant rs3745842 [ dbSNP | Ensembl ].
VAR_027586
Natural varianti1527 – 15271G → A.4 Publications
Corresponds to variant rs3752246 [ dbSNP | Ensembl ].
VAR_027587
Natural varianti1686 – 16861Q → R.1 Publication
Corresponds to variant rs4147918 [ dbSNP | Ensembl ].
VAR_027588
Natural varianti2045 – 20451A → S.4 Publications
Corresponds to variant rs4147934 [ dbSNP | Ensembl ].
VAR_027589

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 138138Missing in isoform 2. 1 PublicationVSP_020701Add
BLAST
Alternative sequencei139 – 16628AQPQP…SLLRT → MVCLGTGQSAGPLVSVQNHC PPCGLSPQ in isoform 2. 1 PublicationVSP_020702Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF250238 mRNA. Translation: AAF85794.1.
AF311102
, AF311058, AF311059, AF311060, AF311061, AF311062, AF311063, AF311064, AF311065, AF311066, AF311067, AF311068, AF311057, AF311069, AF311070, AF311071, AF311072, AF311073, AF311074, AF311075, AF311076, AF311077, AF311078, AF311079, AF311080, AF311081, AF311082, AF311083, AF311084, AF311085, AF311086, AF311087, AF311088, AF311089, AF311090, AF311091, AF311092, AF311093, AF311094, AF311095, AF311096, AF311097, AF311098, AF311099, AF311100, AF311101 Genomic DNA. Translation: AAN04657.1.
AB055390 mRNA. Translation: BAB62294.1.
AF328787 mRNA. Translation: AAK00959.1.
AC011558 Genomic DNA. No translation available.
AF140342 mRNA. Translation: AAF06727.1.
CCDSiCCDS12055.1. [Q8IZY2-1]
RefSeqiNP_061985.2. NM_019112.3. [Q8IZY2-1]
UniGeneiHs.134514.

Genome annotation databases

EnsembliENST00000263094; ENSP00000263094; ENSG00000064687. [Q8IZY2-1]
ENST00000433129; ENSP00000414062; ENSG00000064687. [Q8IZY2-1]
ENST00000435683; ENSP00000465322; ENSG00000064687. [Q8IZY2-2]
GeneIDi10347.
KEGGihsa:10347.
UCSCiuc002lqw.4. human. [Q8IZY2-1]
uc010dsb.1. human. [Q8IZY2-2]

Polymorphism databases

DMDMi161784300.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF250238 mRNA. Translation: AAF85794.1 .
AF311102
, AF311058 , AF311059 , AF311060 , AF311061 , AF311062 , AF311063 , AF311064 , AF311065 , AF311066 , AF311067 , AF311068 , AF311057 , AF311069 , AF311070 , AF311071 , AF311072 , AF311073 , AF311074 , AF311075 , AF311076 , AF311077 , AF311078 , AF311079 , AF311080 , AF311081 , AF311082 , AF311083 , AF311084 , AF311085 , AF311086 , AF311087 , AF311088 , AF311089 , AF311090 , AF311091 , AF311092 , AF311093 , AF311094 , AF311095 , AF311096 , AF311097 , AF311098 , AF311099 , AF311100 , AF311101 Genomic DNA. Translation: AAN04657.1 .
AB055390 mRNA. Translation: BAB62294.1 .
AF328787 mRNA. Translation: AAK00959.1 .
AC011558 Genomic DNA. No translation available.
AF140342 mRNA. Translation: AAF06727.1 .
CCDSi CCDS12055.1. [Q8IZY2-1 ]
RefSeqi NP_061985.2. NM_019112.3. [Q8IZY2-1 ]
UniGenei Hs.134514.

3D structure databases

ProteinModelPortali Q8IZY2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115629. 1 interaction.
IntActi Q8IZY2. 1 interaction.
STRINGi 9606.ENSP00000263094.

Protein family/group databases

TCDBi 3.A.1.211.10. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q8IZY2.

Polymorphism databases

DMDMi 161784300.

Proteomic databases

MaxQBi Q8IZY2.
PaxDbi Q8IZY2.
PRIDEi Q8IZY2.

Protocols and materials databases

DNASUi 10347.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263094 ; ENSP00000263094 ; ENSG00000064687 . [Q8IZY2-1 ]
ENST00000433129 ; ENSP00000414062 ; ENSG00000064687 . [Q8IZY2-1 ]
ENST00000435683 ; ENSP00000465322 ; ENSG00000064687 . [Q8IZY2-2 ]
GeneIDi 10347.
KEGGi hsa:10347.
UCSCi uc002lqw.4. human. [Q8IZY2-1 ]
uc010dsb.1. human. [Q8IZY2-2 ]

Organism-specific databases

CTDi 10347.
GeneCardsi GC19P001040.
H-InvDB HIX0014569.
HGNCi HGNC:37. ABCA7.
HPAi HPA041564.
MIMi 605414. gene.
neXtProti NX_Q8IZY2.
PharmGKBi PA24382.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00760000118965.
HOGENOMi HOG000231547.
HOVERGENi HBG050436.
InParanoidi Q8IZY2.
KOi K05645.
OMAi VRIKIRM.
OrthoDBi EOG78D7J6.
PhylomeDBi Q8IZY2.
TreeFami TF105191.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSi ABCA7. human.
GeneWikii ABCA7.
GenomeRNAii 10347.
NextBioi 39239.
PROi Q8IZY2.
SOURCEi Search...

Gene expression databases

Bgeei Q8IZY2.
CleanExi HS_ABCA7.
ExpressionAtlasi Q8IZY2. baseline and differential.
Genevestigatori Q8IZY2.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
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 PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)."
    Kaminski W.E., Orso E., Diederich W., Klucken J., Drobnik W., Schmitz G.
    Biochem. Biophys. Res. Commun. 273:532-538(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLN-1349; ALA-1527 AND SER-2045, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
    Tissue: Macrophage.
  2. "Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene."
    Kaminski W.E., Piehler A., Schmitz G.
    Biochem. Biophys. Res. Commun. 278:782-789(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-1527.
  3. "Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome."
    Tanaka A.R., Ikeda Y., Abe-Dohmae S., Arakawa R., Sadanami K., Kidera A., Nakagawa S., Nagase T., Aoki R., Kioka N., Amachi T., Yokoyama S., Ueda K.
    Biochem. Biophys. Res. Commun. 283:1019-1025(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS GLN-1349; ALA-1527 AND SER-2045.
    Tissue: Thymus.
  4. "Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter."
    Broccardo C., Osorio J., Luciani M.-F., Schriml L.M., Prades C., Shulenin S., Arnould I., Naudin L., Lafargue C., Rosier M., Jordan B., Mattei M.-G., Dean M., Denefle P., Chimini G.
    Cytogenet. Cell Genet. 92:264-270(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-188; ALA-1527 AND SER-2045, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Spleen.
  5. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Isolation of autoantigen cDNAs by lambda phage surface display."
    Niwa M., Maruyama M., Fujimoto T., Dohi K., Maruyama I.N.
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 195-352 (ISOFORMS 1/2).
    Tissue: Cervix carcinoma.
  7. "Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release."
    Ikeda Y., Abe-Dohmae S., Munehira Y., Aoki R., Kawamoto S., Furuya A., Shitara K., Amachi T., Kioka N., Matsuo M., Yokoyama S., Ueda K.
    Biochem. Biophys. Res. Commun. 311:313-318(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  8. "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux."
    Wang N., Lan D., Gerbod-Giannone M., Linsel-Nitschke P., Jehle A.W., Chen W., Martinez L.O., Tall A.R.
    J. Biol. Chem. 278:42906-42912(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  9. "Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization."
    Kielar D., Kaminski W.E., Liebisch G., Piehler A., Wenzel J.J., Moehle C., Heimerl S., Langmann T., Friedrich S.O., Boettcher A., Barlage S., Drobnik W., Schmitz G.
    J. Invest. Dermatol. 121:465-474(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INDUCTION.
  10. "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein."
    Abe-Dohmae S., Ikeda Y., Matsuo M., Hayashi M., Okuhira K., Ueda K., Yokoyama S.
    J. Biol. Chem. 279:604-611(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  11. "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: VARIANTS GLY-188; ALA-319; ARG-395; HIS-463; THR-718; GLN-1349; ARG-1686 AND SER-2045.

Entry informationi

Entry nameiABCA7_HUMAN
AccessioniPrimary (citable) accession number: Q8IZY2
Secondary accession number(s): Q96S58
, Q9BZC4, Q9NR73, Q9UKP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 4, 2007
Last modified: October 29, 2014
This is version 100 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 19
    Human chromosome 19: 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