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Q8IZY2 (ABCA7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 7
Alternative name(s):
ABCA-SSN
Autoantigen SS-N
Macrophage ABC transporter
Gene names
Name:ABCA7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2146 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.8 Ref.9 Ref.10

Subcellular location

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. Ref.7 Ref.8 Ref.10

Tissue specificity

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. Ref.1 Ref.4 Ref.7

Developmental stage

Expressed in fetal tissues. Strongly expressed in fetal liver. Ref.1 Ref.4

Induction

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. Ref.1 Ref.9

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Ontologies

Keywords
   Biological processPhagocytosis
Transport
   Cellular componentCell membrane
Endosome
Golgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 24097981. Source: GOC

apolipoprotein A-I-mediated signaling pathway

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

cholesterol efflux

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

high-density lipoprotein particle assembly

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

memory

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

negative regulation of ATPase activity

Inferred from direct assay PubMed 24097981. Source: Alzheimers_University_of_Toronto

negative regulation of amyloid precursor protein biosynthetic process

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

negative regulation of beta-amyloid formation

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

peptide cross-linking

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

phagocytosis

Inferred from electronic annotation. Source: UniProtKB-KW

phospholipid efflux

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

phospholipid scrambling

Inferred from direct assay PubMed 24097981. Source: Alzheimers_University_of_Toronto

positive regulation of ATPase activity

Inferred from direct assay PubMed 24097981. Source: Alzheimers_University_of_Toronto

positive regulation of ERK1 and ERK2 cascade

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

positive regulation of beta-amyloid clearance

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

positive regulation of cholesterol efflux

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

positive regulation of engulfment of apoptotic cell

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

positive regulation of phagocytosis

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

positive regulation of phospholipid efflux

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

protein localization to nucleus

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentATP-binding cassette (ABC) transporter complex

Traceable author statement Ref.1. Source: ProtInc

Golgi apparatus

Inferred from direct assay. Source: HPA

Golgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

apical plasma membrane

Inferred from electronic annotation. Source: Ensembl

cell surface

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

cytoplasm

Inferred from direct assay. Source: HPA

endosome membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

phagocytic cup

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

plasma membrane

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

ruffle membrane

Inferred from sequence or structural similarity. Source: Alzheimers_University_of_Toronto

   Molecular_functionATP binding

Traceable author statement Ref.1. Source: ProtInc

ATPase activity

Inferred from electronic annotation. Source: InterPro

apolipoprotein A-I receptor activity

Inferred from direct assay Ref.10. Source: Alzheimers_University_of_Toronto

phospholipid transporter activity

Inferred from electronic annotation. Source: Ensembl

transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZY2-1)

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.
Isoform 2 (identifier: Q8IZY2-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 21462146ATP-binding cassette sub-family A member 7
PRO_0000250674

Regions

Transmembrane22 – 4221Helical; Potential
Topological domain43 – 549507Extracellular By similarity
Transmembrane550 – 57021Helical; Potential
Transmembrane593 – 61321Helical; Potential
Transmembrane626 – 64621Helical; Potential
Transmembrane655 – 67521Helical; Potential
Transmembrane687 – 70721Helical; Potential
Transmembrane727 – 74721Helical; Potential
Transmembrane849 – 86921Helical; Potential
Transmembrane1243 – 126321Helical; Potential
Topological domain1264 – 1537274Extracellular By similarity
Transmembrane1538 – 155821Helical; Potential
Transmembrane1584 – 160421Helical; Potential
Transmembrane1621 – 164121Helical; Potential
Transmembrane1649 – 166921Helical; Potential
Transmembrane1683 – 170321Helical; Potential
Transmembrane1729 – 174921Helical; Potential
Domain807 – 1038232ABC transporter 1
Domain1793 – 2025233ABC transporter 2
Nucleotide binding841 – 8488ATP 1 Potential
Nucleotide binding1827 – 18348ATP 2 Potential

Amino acid modifications

Glycosylation3121N-linked (GlcNAc...) Potential
Disulfide bond75 ↔ 225 By similarity
Disulfide bond1345 ↔ 1359 By similarity

Natural variations

Alternative sequence1 – 138138Missing in isoform 2.
VSP_020701
Alternative sequence139 – 16628AQPQP…SLLRT → MVCLGTGQSAGPLVSVQNHC PPCGLSPQ in isoform 2.
VSP_020702
Natural variant1881E → G. Ref.4 Ref.11
Corresponds to variant rs3764645 [ dbSNP | Ensembl ].
VAR_027581
Natural variant3191T → A. Ref.11
Corresponds to variant rs3752232 [ dbSNP | Ensembl ].
VAR_027582
Natural variant3951H → R. Ref.11
Corresponds to variant rs3764647 [ dbSNP | Ensembl ].
VAR_027583
Natural variant4631R → H. Ref.11
Corresponds to variant rs3752233 [ dbSNP | Ensembl ].
VAR_027584
Natural variant6761A → T.
Corresponds to variant rs59851484 [ dbSNP | Ensembl ].
VAR_060985
Natural variant7181N → T. Ref.11
Corresponds to variant rs3752239 [ dbSNP | Ensembl ].
VAR_027585
Natural variant13491R → Q. Ref.1 Ref.3 Ref.11
Corresponds to variant rs3745842 [ dbSNP | Ensembl ].
VAR_027586
Natural variant15271G → A. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs3752246 [ dbSNP | Ensembl ].
VAR_027587
Natural variant16861Q → R. Ref.11
Corresponds to variant rs4147918 [ dbSNP | Ensembl ].
VAR_027588
Natural variant20451A → S. Ref.1 Ref.3 Ref.4 Ref.11
Corresponds to variant rs4147934 [ dbSNP | Ensembl ].
VAR_027589

Experimental info

Sequence conflict15031P → R in AAF85794. Ref.1
Sequence conflict15031P → R in BAB62294. Ref.3
Sequence conflict15251S → F in AAF85794. Ref.1
Sequence conflict15251S → F in AAN04657. Ref.2
Sequence conflict15251S → F in BAB62294. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Type 1) [UniParc].

Last modified December 4, 2007. Version 3.
Checksum: 6EA624088E74FEE6

FASTA2,146234,350
        10         20         30         40         50         60 
MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE HHECHFPNKP 

        70         80         90        100        110        120 
LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS LVSRLLADAR TVLGGASAHR 

       130        140        150        160        170        180 
TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE PPMLDVAELL TSLLRTESLG LALGQAQEPL 

       190        200        210        220        230        240 
HSLLEAAEDL AQELLALRSL VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW 

       250        260        270        280        290        300 
YEASDLMELV GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD 

       310        320        330        340        350        360 
TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR LLQMQDEGRR 

       370        380        390        400        410        420 
QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL GRVTECLSLD KLEAAPSEAA 

       430        440        450        460        470        480 
LVSRALQLLA EHRFWAGVVF LGPEDSSDPT EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR 

       490        500        510        520        530        540 
DRFWDPGPAA DPLTDLRYVW GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD 

       550        560        570        580        590        600 
VFLRVLSRSL PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL 

       610        620        630        640        650        660 
GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF SRANLAAACG 

       670        680        690        700        710        720 
GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG CESLALLEEQ GEGAQWHNVG 

       730        740        750        760        770        780 
TRPTADVFSL AQVSGLLLLD AALYGLATWY LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP 

       790        800        810        820        830        840 
KSPAPCPTPL DPKVLVEEAP PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL 

       850        860        870        880        890        900 
GHNGAGKTTT LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE 

       910        920        930        940        950        960 
HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV AIAFVGGSQV 

       970        980        990       1000       1010       1020 
VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE AELLGDRVAV VAGGRLCCCG 

      1030       1040       1050       1060       1070       1080 
SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA 

      1090       1100       1110       1120       1130       1140 
LVQHWVPGAR LVEELPHELV LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE 

      1150       1160       1170       1180       1190       1200 
EIFLKVVEEC AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD 

      1210       1220       1230       1240       1250       1260 
QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV GLALVFSLIV 

      1270       1280       1290       1300       1310       1320 
PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL LQEAGLEEPP VQHSSHRFSA 

      1330       1340       1350       1360       1370       1380 
PEVPAEVAKV LASGNWTPES PSPACQCSRP GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ 

      1390       1400       1410       1420       1430       1440 
NLTGRNLSDF LVKTYPRLVR QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW 

      1450       1460       1470       1480       1490       1500 
ALLSPLPGGA LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP 

      1510       1520       1530       1540       1550       1560 
PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP ASFTLVLIEE 

      1570       1580       1590       1600       1610       1620 
RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL IFLAFQQRAY VAPANLPALL 

      1630       1640       1650       1660       1670       1680 
LLLLLYGWSI TPLMYPASFF FSVPSTAYVV LTCINLFIGI NGSMATFVLE LFSDQKLQEV 

      1690       1700       1710       1720       1730       1740 
SRILKQVFLI FPHFCLGRGL IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ 

      1750       1760       1770       1780       1790       1800 
GPLFLLFTLL LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK 

      1810       1820       1830       1840       1850       1860 
VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE AVLAGHSVAR 

      1870       1880       1890       1900       1910       1920 
EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA QVAQTAGSGL ARLGLSWYAD 

      1930       1940       1950       1960       1970       1980 
RPAGTYSGGN KRKLATALAL VGDPAVVFLD EPTTGMDPSA RRFLWNSLLA VVREGRSVML 

      1990       2000       2010       2020       2030       2040 
TSHSMEECEA LCSRLAIMVN GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA 

      2050       2060       2070       2080       2090       2100 
EFPGAELREA HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF 

      2110       2120       2130       2140 
SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL 

« Hide

Isoform 2 (Type 2) [UniParc].

Checksum: 2B52CABF87220A7B
Show »

FASTA2,008218,497

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF250238 mRNA. Translation: AAF85794.1.
AF311102 expand/collapse EMBL AC list , 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.
CCDSCCDS12055.1. [Q8IZY2-1]
RefSeqNP_061985.2. NM_019112.3. [Q8IZY2-1]
UniGeneHs.134514.

3D structure databases

ProteinModelPortalQ8IZY2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115629. 1 interaction.
IntActQ8IZY2. 1 interaction.
STRING9606.ENSP00000263094.

Protein family/group databases

TCDB3.A.1.211.10. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ8IZY2.

Polymorphism databases

DMDM161784300.

Proteomic databases

MaxQBQ8IZY2.
PaxDbQ8IZY2.
PRIDEQ8IZY2.

Protocols and materials databases

DNASU10347.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263094; ENSP00000263094; ENSG00000064687. [Q8IZY2-1]
ENST00000433129; ENSP00000414062; ENSG00000064687. [Q8IZY2-1]
ENST00000435683; ENSP00000465322; ENSG00000064687. [Q8IZY2-2]
GeneID10347.
KEGGhsa:10347.
UCSCuc002lqw.4. human. [Q8IZY2-1]
uc010dsb.1. human. [Q8IZY2-2]

Organism-specific databases

CTD10347.
GeneCardsGC19P001040.
H-InvDBHIX0014569.
HGNCHGNC:37. ABCA7.
HPAHPA041564.
MIM605414. gene.
neXtProtNX_Q8IZY2.
PharmGKBPA24382.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000231547.
HOVERGENHBG050436.
InParanoidQ8IZY2.
KOK05645.
OMAVRIKIRM.
OrthoDBEOG78D7J6.
PhylomeDBQ8IZY2.
TreeFamTF105191.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8IZY2.
BgeeQ8IZY2.
CleanExHS_ABCA7.
GenevestigatorQ8IZY2.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA7. human.
GeneWikiABCA7.
GenomeRNAi10347.
NextBio39239.
PROQ8IZY2.
SOURCESearch...

Entry information

Entry nameABCA7_HUMAN
AccessionPrimary (citable) accession number: Q8IZY2
Secondary accession number(s): Q96S58 expand/collapse secondary AC list , Q9BZC4, Q9NR73, Q9UKP8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 4, 2007
Last modified: July 9, 2014
This is version 97 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM