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Q8WWZ4 (ABCAA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. 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 10
Gene names
Name:ABCA10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1543 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable transporter which may play a role in macrophage lipid homeostasis.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed. Highly expressed in skeletal muscle, heart, brain and gastrointestinal tract. Ref.1 Ref.2

Induction

Down-regulated by cholesterol loading of macrophages. Ref.2

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   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 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WWZ4-1)

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: Q8WWZ4-2)

Also known as: ABCA10delta+82;

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.
Isoform 3 (identifier: Q8WWZ4-3)

Also known as: ABCA10delta-104;

The sequence of this isoform differs from the canonical sequence as follows:
     67-67: E → GHNKSFCNGGVDISYWNKYEDTTFHF
     68-1543: Missing.
Isoform 4 (identifier: Q8WWZ4-4)

Also known as: ABCA10delta-176;

The sequence of this isoform differs from the canonical sequence as follows:
     450-450: S → KKNYNGIRHAKHSRHYC
     451-1543: Missing.
Isoform 5 (identifier: Q8WWZ4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     413-452: IFFDIYEGQI...LSVSTEGSAT → SEERLCPAAH...PCPAATPSGN
     453-1543: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15431543ATP-binding cassette sub-family A member 10
PRO_0000253572

Regions

Transmembrane83 – 10321Helical; Potential
Transmembrane135 – 15521Helical; Potential
Transmembrane185 – 20521Helical; Potential
Transmembrane210 – 23021Helical; Potential
Transmembrane240 – 26021Helical; Potential
Transmembrane264 – 28421Helical; Potential
Transmembrane310 – 33021Helical; Potential
Transmembrane774 – 79421Helical; Potential
Transmembrane890 – 91021Helical; Potential
Transmembrane926 – 94621Helical; Potential
Transmembrane985 – 100521Helical; Potential
Transmembrane1014 – 103421Helical; Potential
Transmembrane1046 – 106621Helical; Potential
Transmembrane1073 – 109321Helical; Potential
Transmembrane1113 – 113321Helical; Potential
Domain391 – 626236ABC transporter 1
Domain1206 – 1440235ABC transporter 2
Nucleotide binding427 – 4348ATP 1 Potential
Nucleotide binding1239 – 12468ATP 2 Potential

Natural variations

Alternative sequence1 – 2323Missing in isoform 2.
VSP_021061
Alternative sequence671E → GHNKSFCNGGVDISYWNKYE DTTFHF in isoform 3.
VSP_021062
Alternative sequence68 – 15431476Missing in isoform 3.
VSP_021063
Alternative sequence413 – 45240IFFDI…EGSAT → SEERLCPAAHRLRCGERLCP AAHHLGCEERPCPAATPSGN in isoform 5.
VSP_021064
Alternative sequence4501S → KKNYNGIRHAKHSRHYC in isoform 4.
VSP_021065
Alternative sequence451 – 15431093Missing in isoform 4.
VSP_021066
Alternative sequence453 – 15431091Missing in isoform 5.
VSP_021067
Natural variant2031P → S. Ref.1 Ref.2 Ref.3
Corresponds to variant rs9909216 [ dbSNP | Ensembl ].
VAR_028384
Natural variant2871I → V. Ref.1 Ref.2 Ref.3
Corresponds to variant rs11657804 [ dbSNP | Ensembl ].
VAR_028385
Natural variant9161M → T. Ref.1
Corresponds to variant rs4968849 [ dbSNP | Ensembl ].
VAR_028386
Natural variant13221R → W.
Corresponds to variant rs10491178 [ dbSNP | Ensembl ].
VAR_055469

Experimental info

Sequence conflict1401C → Y in CAD89903. Ref.3
Sequence conflict1591R → G in CAD89903. Ref.3
Sequence conflict1871F → S in CAD89903. Ref.3
Sequence conflict3241L → S in CAD89903. Ref.3
Sequence conflict3641F → L in CAD89903. Ref.3
Sequence conflict12161R → I in AAO72160. Ref.2
Sequence conflict12161R → I in AAO72161. Ref.2
Sequence conflict12161R → I in AAH51320. Ref.4

Sequences

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

Last modified May 18, 2010. Version 3.
Checksum: 47E932434314B538

FASTA1,543175,790
        10         20         30         40         50         60 
MNKMALASFM KGRTVIGTPD EETMDIELPK KYHEMVGVIF SDTFSYRLKF NWGYRIPVIK 

        70         80         90        100        110        120 
EHSEYTEHCW AMHGEIFCYL AKYWLKGFVA FQAAINAAII EVTTNHSVME ELTSVIGINM 

       130        140        150        160        170        180 
KIPPFISKGE IMNEWFHFTC LVSFSSFIYF ASLNVARERG KFKKLMTVMG LRESAFWLSW 

       190        200        210        220        230        240 
GLTYICFIFI MSIFMALVIT SIPIVFHTGF MVIFTLYSLY GLSLIALAFL MSVLIRKPML 

       250        260        270        280        290        300 
AGLAGFLFTV FWGCLGFTVL YRQLPLSLGW VLSLLSPFAF TAGMAQITHL DNYLSGVIFP 

       310        320        330        340        350        360 
DPSGDSYKMI ATFFILAFDT LFYLIFTLYF ERVLPDKDGH GDSPLFFLKS SFWSKHQNTH 

       370        380        390        400        410        420 
HEIFENEINP EHSSDDSFEP VSPEFHGKEA IRIRNVIKEY NGKTGKVEAL QGIFFDIYEG 

       430        440        450        460        470        480 
QITAILGHNG AGKSTLLNIL SGLSVSTEGS ATIYNTQLSE ITDMEEIRKN IGFCPQFNFQ 

       490        500        510        520        530        540 
FDFLTVRENL RVFAKIKGIQ PKEVEQEVKR IIMELDMQSI QDIIAKKLSG GQKRKLTLGI 

       550        560        570        580        590        600 
AILGDPQVLL LDEPTAGLDP FSRHRVWSLL KEHKVDRLIL FSTQFMDEAD ILADRKVFLS 

       610        620        630        640        650        660 
NGKLKCAGSS LFLKRKWGIG YHLSLHRNEM CDTEKITSLI KQHIPDAKLT TESEEKLVYS 

       670        680        690        700        710        720 
LPLEKTNKFP DLYSDLDKCS DQGIRNYAVS VTSLNEVFLN LEGKSAIDEP DFDIGKQEKI 

       730        740        750        760        770        780 
HVTRNTGDES EMEQVLCSLP ETRKAVSSAA LWRRQIYAVA TLRFLKLRRE RRALLCLLLV 

       790        800        810        820        830        840 
LGIAFIPIIL EKIMYKVTRE THCWEFSPSM YFLSLEQIPK TPLTSLLIVN NTGSNIEDLV 

       850        860        870        880        890        900 
HSLKCQDIVL EIDDFRNRNG SDDPSYNGAI IVSGDQKDYR FSVACNTKKL NCFPVLMGIV 

       910        920        930        940        950        960 
SNALMGIFNF TELIQMESTS FSRDDIVLDL GFIDGSIFLL LITNCVSPFI GMSSISDYKK 

       970        980        990       1000       1010       1020 
NVQSQLWISG LWPSAYWCGQ ALVDIPLYFL ILFSIHLIYY FIFLGFQLSW ELMFVLVVCI 

      1030       1040       1050       1060       1070       1080 
IGCAVSLIFL TYVLSFIFRK WRKNNGFWSF GFFIILICVS TIMVSTQYEK LNLILCMIFI 

      1090       1100       1110       1120       1130       1140 
PSFTLLGYVM LLIQLDFMRN LDSLDNRINE VNKTILLTTL IPYLQSVIFL FVIRCLEMKY 

      1150       1160       1170       1180       1190       1200 
GNEIMNKDPV FRISPRSRET HPNPEEPEEE DEDVQAERVQ AANALTAPNL EEEPVITASC 

      1210       1220       1230       1240       1250       1260 
LHKEYYETKK SCFSTRKKKI AIRNVSFCVK KGEVLGLLGH NGAGKSTSIK MITGCTKPTA 

      1270       1280       1290       1300       1310       1320 
GVVVLQGSRA SVRQQHDNSL KFLGYCPQEN SLWPKLTMKE HLELYAAVKG LGKEDAALSI 

      1330       1340       1350       1360       1370       1380 
SRLVEALKLQ EQLKAPVKTL SEGIKRKLCF VLSILGNPSV VLLDEPFTGM DPEGQQQMWQ 

      1390       1400       1410       1420       1430       1440 
ILQATVKNKE RGTLLTTHYM SEAEAVCDRM AMMVSGTLRC IGSIQHLKNK FGRDYLLEIK 

      1450       1460       1470       1480       1490       1500 
MKEPTQVEAL HTEILKLFPQ AAWQERYSSL MAYKLPVEDV HPLSRAFFKL EAMKQTFNLE 

      1510       1520       1530       1540 
EYSLSQATLE QVFLELCKEQ ELGNVDDKID TTVEWKLLPQ EDP 

« Hide

Isoform 2 (ABCA10delta+82) [UniParc].

Checksum: 53F733EF3885790F
Show »

FASTA1,520173,280
Isoform 3 (ABCA10delta-104) [UniParc].

Checksum: 947A319F99231651
Show »

FASTA9210,828
Isoform 4 (ABCA10delta-176) [UniParc].

Checksum: 636FB6EEBF278210
Show »

FASTA46653,113
Isoform 5 [UniParc].

Checksum: D3583F1419B5AC38
Show »

FASTA45251,478

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), TISSUE SPECIFICITY, VARIANTS SER-203; VAL-287 AND THR-916.
[2]"ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter."
Wenzel J.J., Kaminski W.E., Piehler A., Heimerl S., Langmann T., Schmitz G.
Biochem. Biophys. Res. Commun. 306:1089-1098(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS SER-203 AND VAL-287, ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), TISSUE SPECIFICITY, INDUCTION.
Tissue: Macrophage.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANTS SER-203 AND VAL-287.
Tissue: Skeletal muscle.
[4]"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. expand/collapse author list , 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].
[5]"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] OF 1125-1543 (ISOFORMS 1/2).
Tissue: Liver and Pancreatic carcinoma.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY028900 mRNA. Translation: AAK30025.1.
AY247065 mRNA. Translation: AAO72161.1.
AY247105 expand/collapse EMBL AC list , AY247069, AY247070, AY247071, AY247072, AY247073, AY247074, AY247075, AY247076, AY247077, AY247078, AY247079, AY247080, AY247081, AY247082, AY247083, AY247084, AY247085, AY247086, AY247087, AY247088, AY247089, AY247090, AY247091, AY247092, AY247093, AY247094, AY247095, AY247096, AY247097, AY247098, AY247099, AY247100, AY247101, AY247102, AY247103, AY247104 Genomic DNA. Translation: AAO72160.1.
AL832004 mRNA. Translation: CAD89903.1.
AC005495 Genomic DNA. No translation available.
BC031026 mRNA. Translation: AAH31026.1.
BC051320 mRNA. Translation: AAH51320.1.
CCDSCCDS11684.1. [Q8WWZ4-1]
RefSeqNP_525021.3. NM_080282.3. [Q8WWZ4-1]
UniGeneHs.25377.

3D structure databases

ProteinModelPortalQ8WWZ4.
SMRQ8WWZ4. Positions 390-722, 1208-1460.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115630. 2 interactions.

Protein family/group databases

TCDB3.A.1.211.17. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ8WWZ4.

Polymorphism databases

DMDM296439455.

Proteomic databases

PaxDbQ8WWZ4.
PRIDEQ8WWZ4.

Protocols and materials databases

DNASU10349.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269081; ENSP00000269081; ENSG00000154263. [Q8WWZ4-1]
ENST00000416101; ENSP00000407772; ENSG00000154263. [Q8WWZ4-4]
ENST00000423818; ENSP00000394639; ENSG00000154263. [Q8WWZ4-3]
ENST00000432313; ENSP00000387674; ENSG00000154263. [Q8WWZ4-5]
ENST00000522406; ENSP00000429853; ENSG00000154263. [Q8WWZ4-5]
ENST00000523512; ENSP00000429945; ENSG00000154263. [Q8WWZ4-3]
GeneID10349.
KEGGhsa:10349.
UCSCuc010dfa.1. human. [Q8WWZ4-1]

Organism-specific databases

CTD10349.
GeneCardsGC17M067144.
HGNCHGNC:30. ABCA10.
HPAHPA014535.
MIM612508. gene.
neXtProtNX_Q8WWZ4.
PharmGKBPA24374.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOVERGENHBG079884.
InParanoidQ8WWZ4.
KOK05652.
OMAFSYRLKF.
OrthoDBEOG73Z2SB.
PhylomeDBQ8WWZ4.
TreeFamTF105192.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ8WWZ4.
CleanExHS_ABCA10.
GenevestigatorQ8WWZ4.

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

GenomeRNAi10349.
NextBio39243.
PROQ8WWZ4.
SOURCESearch...

Entry information

Entry nameABCAA_HUMAN
AccessionPrimary (citable) accession number: Q8WWZ4
Secondary accession number(s): C9JZH2 expand/collapse secondary AC list , C9K035, Q6PIQ6, Q7Z2I9, Q7Z7P7, Q86TD2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 96 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 17

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