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Q8N139 (ABCA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. 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 6
Gene names
Name:ABCA6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1617 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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 with higher expression in liver. Ref.1 Ref.2

Developmental stage

Expressed in fetal kidney, lung and liver. Ref.2

Induction

Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. Ref.5

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

The sequence AAM77557.1 differs from that shown. Reason: Frameshift at positions 998 and 1000.

The sequence AAM77558.1 differs from that shown. Reason: Frameshift at positions 998 and 1000.

The sequence BAC04994.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein
   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 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N139-1)

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: Q8N139-2)

Also known as: ABCA6delta-139;

The sequence of this isoform differs from the canonical sequence as follows:
     636-637: LL → EK
     638-1617: Missing.
Isoform 3 (identifier: Q8N139-3)

The sequence of this isoform differs from the canonical sequence as follows:
     154-185: AHCWDGYGEFSCTLTKYWNRGFVALQTAINTA → GDFPYQISLWNFSCFQHKEQRRLGNRDAFNDT
     186-1617: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16171617ATP-binding cassette sub-family A member 6
PRO_0000250672

Regions

Transmembrane31 – 5121Helical; Potential
Transmembrane222 – 24221Helical; Potential
Transmembrane268 – 28821Helical; Potential
Transmembrane297 – 31721Helical; Potential
Transmembrane327 – 34721Helical; Potential
Transmembrane355 – 37521Helical; Potential
Transmembrane397 – 41721Helical; Potential
Transmembrane854 – 87421Helical; Potential
Transmembrane1007 – 102721Helical; Potential
Transmembrane1062 – 108221Helical; Potential
Transmembrane1094 – 111421Helical; Potential
Transmembrane1127 – 114721Helical; Potential
Transmembrane1150 – 117021Helical; Potential
Transmembrane1194 – 121421Helical; Potential
Domain478 – 713236ABC transporter 1
Domain1288 – 1513226ABC transporter 2
Nucleotide binding514 – 5218ATP 1 Potential
Nucleotide binding1320 – 13278ATP 2 Potential

Amino acid modifications

Glycosylation841N-linked (GlcNAc...) Potential
Glycosylation1091N-linked (GlcNAc...) Potential
Glycosylation9401N-linked (GlcNAc...) Ref.6

Natural variations

Alternative sequence154 – 18532AHCWD…AINTA → GDFPYQISLWNFSCFQHKEQ RRLGNRDAFNDT in isoform 3.
VSP_020695
Alternative sequence186 – 16171432Missing in isoform 3.
VSP_020696
Alternative sequence636 – 6372LL → EK in isoform 2.
VSP_020697
Alternative sequence638 – 1617980Missing in isoform 2.
VSP_020698
Natural variant2821V → I. Ref.2
Corresponds to variant rs4968839 [ dbSNP | Ensembl ].
VAR_027576
Natural variant6101N → Y.
Corresponds to variant rs9282554 [ dbSNP | Ensembl ].
VAR_027577
Natural variant6981M → I.
Corresponds to variant rs9282553 [ dbSNP | Ensembl ].
VAR_027578
Natural variant8751M → I. Ref.2
Corresponds to variant rs7212506 [ dbSNP | Ensembl ].
VAR_027579
Natural variant13221N → S. Ref.2 Ref.4
Corresponds to variant rs2302134 [ dbSNP | Ensembl ].
VAR_027580

Experimental info

Sequence conflict511M → L in AAH70125. Ref.3
Sequence conflict1471L → R in AAH70125. Ref.3
Sequence conflict8121E → G in BAC04994. Ref.4
Sequence conflict875 – 8762MY → IH in BAC04994. Ref.4

Sequences

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

Last modified October 3, 2006. Version 2.
Checksum: 73940D8050B0A3CA

FASTA1,617184,286
        10         20         30         40         50         60 
MNMKQKSVYQ QTKALLCKNF LKKWRMKRES LLEWGLSILL GLCIALFSSS MRNVQFPGMA 

        70         80         90        100        110        120 
PQNLGRVDKF NSSSLMVVYT PISNLTQQIM NKTALAPLLK GTSVIGAPNK THMDEILLEN 

       130        140        150        160        170        180 
LPYAMGIIFN ETFSYKLIFF QGYNSPLWKE DFSAHCWDGY GEFSCTLTKY WNRGFVALQT 

       190        200        210        220        230        240 
AINTAIIEIT TNHPVMEELM SVTAITMKTL PFITKNLLHN EMFILFFLLH FSPLVYFISL 

       250        260        270        280        290        300 
NVTKERKKSK NLMKMMGLQD SAFWLSWGLI YAGFIFIISI FVTIIITFTQ IIVMTGFMVI 

       310        320        330        340        350        360 
FILFFLYGLS LVALVFLMSV LLKKAVLTNL VVFLLTLFWG CLGFTVFYEQ LPSSLEWILN 

       370        380        390        400        410        420 
ICSPFAFTTG MIQIIKLDYN LNGVIFPDPS GDSYTMIATF SMLLLDGLIY LLLALYFDKI 

       430        440        450        460        470        480 
LPYGDERHYS PLFFLNSSSC FQHQRTNAKV IEKEIDAEHP SDDYFEPVAP EFQGKEAIRI 

       490        500        510        520        530        540 
RNVKKEYKGK SGKVEALKGL LFDIYEGQIT AILGHSGAGK SSLLNILNGL SVPTEGSVTI 

       550        560        570        580        590        600 
YNKNLSEMQD LEEIRKITGV CPQFNVQFDI LTVKENLSLF AKIKGIHLKE VEQEVQRILL 

       610        620        630        640        650        660 
ELDMQNIQDN LAKHLSEGQK RKLTFGITIL GDPQILLLDE PTTGLDPFSR DQVWSLLRER 

       670        680        690        700        710        720 
RADHVILFST QSMDEADILA DRKVIMSNGR LKCAGSSMFL KRRWGLGYHL SLHRNEICNP 

       730        740        750        760        770        780 
EQITSFITHH IPDAKLKTEN KEKLVYTLPL ERTNTFPDLF SDLDKCSDQG VTGYDISMST 

       790        800        810        820        830        840 
LNEVFMKLEG QSTIEQDFEQ VEMIRDSESL NEMELAHSSF SEMQTAVSDM GLWRMQVFAM 

       850        860        870        880        890        900 
ARLRFLKLKR QTKVLLTLLL VFGIAIFPLI VENIMYAMLN EKIDWEFKNE LYFLSPGQLP 

       910        920        930        940        950        960 
QEPRTSLLII NNTESNIEDF IKSLKHQNIL LEVDDFENRN GTDGLSYNGA IIVSGKQKDY 

       970        980        990       1000       1010       1020 
RFSVVCNTKR LHCFPILMNI ISNGLLQMFN HTQHIRIESS PFPLSHIGLW TGLPDGSFFL 

      1030       1040       1050       1060       1070       1080 
FLVLCSISPY ITMGSISDYK KNAKSQLWIS GLYTSAYWCG QALVDVSFFI LILLLMYLIF 

      1090       1100       1110       1120       1130       1140 
YIENMQYLLI TSQIVFALVI VTPGYAASLV FFIYMISFIF RKRRKNSGLW SFYFFFASTI 

      1150       1160       1170       1180       1190       1200 
MFSITLINHF DLSILITTMV LVPSYTLLGF KTFLEVRDQE HYREFPEANF ELSATDFLVC 

      1210       1220       1230       1240       1250       1260 
FIPYFQTLLF VFVLRCMELK CGKKRMRKDP VFRISPQSRD AKPNPEEPID EDEDIQTERI 

      1270       1280       1290       1300       1310       1320 
RTATALTTSI LDEKPVIIAS CLHKEYAGQK KSCFSKRKKK IAARNISFCV QEGEILGLLG 

      1330       1340       1350       1360       1370       1380 
PNGAGKSSSI RMISGITKPT AGEVELKGCS SVLGHLGYCP QENVLWPMLT LREHLEVYAA 

      1390       1400       1410       1420       1430       1440 
VKGLRKADAR LAIARLVSAF KLHEQLNVPV QKLTAGITRK LCFVLSLLGN SPVLLLDEPS 

      1450       1460       1470       1480       1490       1500 
TGIDPTGQQQ MWQAIQAVVK NTERGVLLTT HNLAEAEALC DRVAIMVSGR LRCIGSIQHL 

      1510       1520       1530       1540       1550       1560 
KNKLGKDYIL ELKVKETSQV TLVHTEILKL FPQAAGQERY SSLLTYKLPV ADVYPLSQTF 

      1570       1580       1590       1600       1610 
HKLEAVKHNF NLEEYSLSQC TLEKVFLELS KEQEVGNFDE EIDTTMRWKL LPHSDEP 

« Hide

Isoform 2 (ABCA6delta-139) [UniParc].

Checksum: 22EAA0CCC530DB75
Show »

FASTA63772,522
Isoform 3 [UniParc].

Checksum: 6B47A3A9A8EAE2A4
Show »

FASTA18521,356

References

« Hide 'large scale' references
[1]"ABCA6, a novel A subclass ABC transporter."
Kaminski W.E., Wenzel J.J., Piehler A., Langmann T., Schmitz G.
Biochem. Biophys. Res. Commun. 285:1295-1301(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Macrophage.
[2]"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), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, VARIANTS ILE-282; ILE-875 AND SER-1322.
[3]"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] (ISOFORM 3).
Tissue: Lung.
[4]"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] OF 801-1617 (ISOFORM 1), VARIANT SER-1322.
Tissue: Spleen.
[5]"ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport."
Klucken J., Buechler C., Orso E., Kaminski W.E., Porsch-Oezcueruemez M., Liebisch G., Kapinsky M., Diederich W., Drobnik W., Dean M., Allikmets R., Schmitz G.
Proc. Natl. Acad. Sci. U.S.A. 97:817-822(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[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-940.
Tissue: Liver.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF373290 mRNA. Translation: AAM77557.1. Frameshift.
AF373328 expand/collapse EMBL AC list , AF373291, AF373292, AF373293, AF373294, AF373295, AF373296, AF373297, AF373298, AF373299, AF373300, AF373301, AF373302, AF373303, AF373304, AF373305, AF373306, AF373307, AF373308, AF373309, AF373310, AF373311, AF373312, AF373313, AF373314, AF373315, AF373316, AF373317, AF373318, AF373319, AF373320, AF373321, AF373322, AF373323, AF373324, AF373325, AF373326, AF373327 Genomic DNA. Translation: AAM77558.1. Frameshift.
AY028898 mRNA. Translation: AAK30023.1.
BC070125 mRNA. Translation: AAH70125.1.
AK097296 mRNA. Translation: BAC04994.1. Different initiation.
CCDSCCDS11683.1. [Q8N139-1]
RefSeqNP_525023.2. NM_080284.2. [Q8N139-1]
XP_006721853.1. XM_006721790.1. [Q8N139-1]
UniGeneHs.709514.

3D structure databases

ProteinModelPortalQ8N139.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117023. 1 interaction.
IntActQ8N139. 1 interaction.
STRING9606.ENSP00000284425.

Protein family/group databases

TCDB3.A.1.211.15. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ8N139.

Polymorphism databases

DMDM115503764.

Proteomic databases

PaxDbQ8N139.
PRIDEQ8N139.

Protocols and materials databases

DNASU23460.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284425; ENSP00000284425; ENSG00000154262. [Q8N139-1]
ENST00000590645; ENSP00000466862; ENSG00000154262. [Q8N139-3]
GeneID23460.
KEGGhsa:23460.
UCSCuc002jhw.1. human. [Q8N139-1]
uc002jhy.3. human. [Q8N139-3]

Organism-specific databases

CTD23460.
GeneCardsGC17M067074.
H-InvDBHIX0014121.
HGNCHGNC:36. ABCA6.
MIM612504. gene.
neXtProtNX_Q8N139.
PharmGKBPA24381.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000231057.
HOVERGENHBG079884.
InParanoidQ8N139.
KOK05649.
OMACFQHQRT.
OrthoDBEOG73Z2SB.
PhylomeDBQ8N139.
TreeFamTF105192.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ8N139.
CleanExHS_ABCA6.
GenevestigatorQ8N139.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
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.
PROSITEPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA6. human.
GenomeRNAi23460.
NextBio45761.
PROQ8N139.
SOURCESearch...

Entry information

Entry nameABCA6_HUMAN
AccessionPrimary (citable) accession number: Q8N139
Secondary accession number(s): Q6NSH9, Q8N856, Q8WWZ6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 98 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