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Q8WWZ7 (ABCA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 93. 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 5
Gene names
Name:ABCA5
Synonyms:KIAA1888
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1642 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May play a role in the processing of autolysosomes By similarity.

Subcellular location

Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Ref.1 Ref.2

Developmental stage

Expressed in fetal liver, kidney and brain. Ref.1

Post-translational modification

N-glycosylated By similarity.

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

The sequence BAB71700.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTransport
   Cellular componentEndosome
Golgi apparatus
Lysosome
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcholesterol efflux

Inferred from sequence or structural similarity PubMed 20382126. Source: BHF-UCL

high-density lipoprotein particle remodeling

Inferred from sequence or structural similarity PubMed 20382126. Source: BHF-UCL

negative regulation of macrophage derived foam cell differentiation

Inferred from sequence or structural similarity PubMed 20382126. Source: BHF-UCL

reverse cholesterol transport

Inferred by curator PubMed 20382126. Source: BHF-UCL

   Cellular_componentGolgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

late endosome

Inferred from sequence or structural similarity PubMed 15870284. Source: BHF-UCL

late endosome membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

lysosomal membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

lysosome

Inferred from sequence or structural similarity PubMed 15870284. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WWZ7-1)

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: Q8WWZ7-2)

Also known as: V20+16;

The sequence of this isoform differs from the canonical sequence as follows:
     922-925: DSDI → GESV
     926-1642: Missing.
Isoform 3 (identifier: Q8WWZ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-777: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16421642ATP-binding cassette sub-family A member 5
PRO_0000250669

Regions

Transmembrane32 – 5221Helical; Potential
Transmembrane220 – 24021Helical; Potential
Transmembrane264 – 28421Helical; Potential
Transmembrane297 – 31721Helical; Potential
Transmembrane328 – 34821Helical; Potential
Transmembrane355 – 37521Helical; Potential
Transmembrane396 – 41621Helical; Potential
Transmembrane866 – 88621Helical; Potential
Transmembrane967 – 98721Helical; Potential
Transmembrane1021 – 104121Helical; Potential
Transmembrane1071 – 109121Helical; Potential
Transmembrane1102 – 112221Helical; Potential
Transmembrane1139 – 115921Helical; Potential
Transmembrane1169 – 118921Helical; Potential
Transmembrane1207 – 122721Helical; Potential
Domain478 – 713236ABC transporter 1
Domain1290 – 1533244ABC transporter 2
Nucleotide binding514 – 5218ATP 1 Potential
Nucleotide binding1333 – 13408ATP 2 Potential

Amino acid modifications

Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation4581N-linked (GlcNAc...) Potential
Glycosylation9961N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 777777Missing in isoform 3.
VSP_020690
Alternative sequence922 – 9254DSDI → GESV in isoform 2.
VSP_020691
Alternative sequence926 – 1642717Missing in isoform 2.
VSP_020692
Natural variant931Q → K.
Corresponds to variant rs12383 [ dbSNP | Ensembl ].
VAR_027571
Natural variant1781A → T. Ref.2
Corresponds to variant rs11544715 [ dbSNP | Ensembl ].
VAR_048128
Natural variant4841Q → R. Ref.2
Corresponds to variant rs17686569 [ dbSNP | Ensembl ].
VAR_027572
Natural variant7531M → V.
Corresponds to variant rs9898003 [ dbSNP | Ensembl ].
VAR_027573
Natural variant8321A → S. Ref.1 Ref.2 Ref.3
Corresponds to variant rs536009 [ dbSNP | Ensembl ].
VAR_027574
Natural variant9601M → V. Ref.4
Corresponds to variant rs557491 [ dbSNP | Ensembl ].
VAR_027575
Natural variant12601D → G.
Corresponds to variant rs11544716 [ dbSNP | Ensembl ].
VAR_048129

Experimental info

Sequence conflict12151Y → H in BAB71208. Ref.3
Sequence conflict13571V → I in CAB93535. Ref.2
Sequence conflict13661T → S in CAB93535. Ref.2
Sequence conflict13711D → G in BAB71208. Ref.3
Sequence conflict14191A → G in BAB71208. Ref.3
Sequence conflict15231K → R in BAB71208. Ref.3

Sequences

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

Last modified October 3, 2006. Version 2.
Checksum: 608809E8539804BF

FASTA1,642186,508
        10         20         30         40         50         60 
MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS MMHPNKKYEE 

        70         80         90        100        110        120 
VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL PDVIITEEYT NEKEMLTSSL 

       130        140        150        160        170        180 
SKPSNFVGVV FKDSMSYELR FFPDMIPVSS IYMDSRAGCS KSCEAAQYWS SGFTVLQASI 

       190        200        210        220        230        240 
DAAIIQLKTN VSLWKELEST KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI 

       250        260        270        280        290        300 
VAEKEKKIKE FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF 

       310        320        330        340        350        360 
LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES FPKSLVWLFS 

       370        380        390        400        410        420 
PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI IMLTLNSIFY VLLAVYLDQV 

       430        440        450        460        470        480 
IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI 

       490        500        510        520        530        540 
SGIQKTYRKK GENVEALRNL SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI 

       550        560        570        580        590        600 
YGHRVSEIDE MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 

       610        620        630        640        650        660 
DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR HIVWNLLKYR 

       670        680        690        700        710        720 
KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL KSKWGIGYRL SMYIDKYCAT 

       730        740        750        760        770        780 
ESLSSLVKQH IPGATLLQQN DQQLVYSLPF KDMDKFSGLF SALDSHSNLG VISYGVSMTT 

       790        800        810        820        830        840 
LEDVFLKLEV EAEIDQADYS VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW 

       850        860        870        880        890        900 
KQQMYTIAKF HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY 

       910        920        930        940        950        960 
FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV APHSAALNVM 

       970        980        990       1000       1010       1020 
HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET IQIWSTPFFQ EITDIVFKIE 

      1030       1040       1050       1060       1070       1080 
LYFQAALLGI IVTAMPPYFA MENAENHKIK AYTQLKLSGL LPSAYWIGQA VVDIPLFFII 

      1090       1100       1110       1120       1130       1140 
LILMLGSLLA FHYGLYFYTV KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI 

      1150       1160       1170       1180       1190       1200 
YSVAALACIA ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT 

      1210       1220       1230       1240       1250       1260 
YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS KNRKLPEPPD 

      1270       1280       1290       1300       1310       1320 
NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD DKKDFLLSRK VKKVATKYIS 

      1330       1340       1350       1360       1370       1380 
FCVKKGEILG LLGPNGAGKS TIINILVGDI EPTSGQVFLG DYSSETSEDD DSLKCMGYCP 

      1390       1400       1410       1420       1430       1440 
QINPLWPDTT LQEHFEIYGA VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK 

      1450       1460       1470       1480       1490       1500 
LCFALSMLGN PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC 

      1510       1520       1530       1540       1550       1560 
DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI QYIFPNASRQ 

      1570       1580       1590       1600       1610       1620 
ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF SQATLEQVFV ELTKEQEEED 

      1630       1640 
NSCGTLNSTL WWERTQEDRV VF 

« Hide

Isoform 2 (V20+16) [UniParc].

Checksum: EF5D6A281832CE47
Show »

FASTA925104,364
Isoform 3 [UniParc].

Checksum: F0A7BF87007E321F
Show »

FASTA86599,273

References

« Hide 'large scale' references
[1]"Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily."
Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M.
GeneScreen 1:157-164(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-832, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Tissue: Testis.
[2]"Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant."
Petry F., Kotthaus A., Hirsch-Ernst K.I.
Biochem. Biophys. Res. Commun. 300:343-350(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS THR-178; ARG-484 AND SER-832.
Tissue: Hepatoma and Testis.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1642 (ISOFORM 1), VARIANT SER-832.
Tissue: Teratocarcinoma and Testis.
[4]"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
Nagase T., Kikuno R., Ohara O.
DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 906-1642 (ISOFORM 1), VARIANT VAL-960.
Tissue: Brain.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY028897 mRNA. Translation: AAK30022.1.
AJ275973 mRNA. Translation: CAB93535.3.
AJ512612 mRNA. Translation: CAD54757.1.
AK056533 mRNA. Translation: BAB71208.1.
AK058170 mRNA. Translation: BAB71700.1. Different initiation.
AB067475 mRNA. Translation: BAB67781.1.
RefSeqNP_061142.2. NM_018672.4.
NP_758424.1. NM_172232.3.
UniGeneHs.731824.

3D structure databases

ProteinModelPortalQ8WWZ7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117024. 2 interactions.
IntActQ8WWZ7. 2 interactions.
STRING9606.ENSP00000319766.

Protein family/group databases

TCDB3.A.1.211.9. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ8WWZ7.

Polymorphism databases

DMDM115503762.

Proteomic databases

PaxDbQ8WWZ7.
PRIDEQ8WWZ7.

Protocols and materials databases

DNASU23461.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000392676; ENSP00000376443; ENSG00000154265. [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265. [Q8WWZ7-1]
GeneID23461.
KEGGhsa:23461.
UCSCuc002jib.2. human. [Q8WWZ7-3]
uc002jic.2. human. [Q8WWZ7-1]
uc002jih.2. human. [Q8WWZ7-2]

Organism-specific databases

CTD23461.
GeneCardsGC17M067240.
HGNCHGNC:35. ABCA5.
HPAHPA022032.
MIM612503. gene.
neXtProtNX_Q8WWZ7.
PharmGKBPA24380.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000231057.
HOVERGENHBG079884.
KOK05648.
OrthoDBEOG73Z2SB.
PhylomeDBQ8WWZ7.
TreeFamTF105192.

Gene expression databases

ArrayExpressQ8WWZ7.
BgeeQ8WWZ7.
CleanExHS_ABCA5.
GenevestigatorQ8WWZ7.

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

ChiTaRSABCA5. human.
GenomeRNAi23461.
NextBio45765.
PROQ8WWZ7.
SOURCESearch...

Entry information

Entry nameABCA5_HUMAN
AccessionPrimary (citable) accession number: Q8WWZ7
Secondary accession number(s): Q8IVJ2 expand/collapse secondary AC list , Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: April 16, 2014
This is version 93 of the entry and version 2 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 17

Human chromosome 17: entries, gene names and cross-references to MIM