Q8N139 (ABCA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family A member 6

Gene names

Name:

ABCA6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1617 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1617	1617	ATP-binding cassette sub-family A member 6		PRO_0000250672
Regions
	Transmembrane	31 – 51	21	Helical; Potential
	Transmembrane	222 – 242	21	Helical; Potential
	Transmembrane	268 – 288	21	Helical; Potential
	Transmembrane	297 – 317	21	Helical; Potential
	Transmembrane	327 – 347	21	Helical; Potential
	Transmembrane	355 – 375	21	Helical; Potential
	Transmembrane	397 – 417	21	Helical; Potential
	Transmembrane	854 – 874	21	Helical; Potential
	Transmembrane	1007 – 1027	21	Helical; Potential
	Transmembrane	1062 – 1082	21	Helical; Potential
	Transmembrane	1094 – 1114	21	Helical; Potential
	Transmembrane	1127 – 1147	21	Helical; Potential
	Transmembrane	1150 – 1170	21	Helical; Potential
	Transmembrane	1194 – 1214	21	Helical; Potential
	Domain	478 – 713	236	ABC transporter 1
	Domain	1288 – 1513	226	ABC transporter 2
	Nucleotide binding	514 – 521	8	ATP 1 Potential
	Nucleotide binding	1320 – 1327	8	ATP 2 Potential
Amino acid modifications
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	109	1	N-linked (GlcNAc...) Potential
	Glycosylation	940	1	N-linked (GlcNAc...) Ref.6
Natural variations
	Alternative sequence	154 – 185	32	AHCWD…AINTA → GDFPYQISLWNFSCFQHKEQ RRLGNRDAFNDT in isoform 3.		VSP_020695
	Alternative sequence	186 – 1617	1432	Missing in isoform 3.		VSP_020696
	Alternative sequence	636 – 637	2	LL → EK in isoform 2.		VSP_020697
	Alternative sequence	638 – 1617	980	Missing in isoform 2.		VSP_020698
	Natural variant	282	1	V → I. Ref.2 Corresponds to variant rs4968839 [ dbSNP | Ensembl ].		VAR_027576
	Natural variant	610	1	N → Y. Corresponds to variant rs9282554 [ dbSNP | Ensembl ].		VAR_027577
	Natural variant	698	1	M → I. Corresponds to variant rs9282553 [ dbSNP | Ensembl ].		VAR_027578
	Natural variant	875	1	M → I. Ref.2 Corresponds to variant rs7212506 [ dbSNP | Ensembl ].		VAR_027579
	Natural variant	1322	1	N → S. Ref.2 Ref.4 Corresponds to variant rs2302134 [ dbSNP | Ensembl ].		VAR_027580
Experimental info
	Sequence conflict	51	1	M → L in AAH70125. Ref.3
	Sequence conflict	147	1	L → R in AAH70125. Ref.3
	Sequence conflict	812	1	E → G in BAC04994. Ref.4
	Sequence conflict	875 – 876	2	MY → IH in BAC04994. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 3, 2006. Version 2. Checksum: 73940D8050B0A3CA	FASTA	1,617	184,286
	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
	Isoform 2 (ABCA6delta-139) [UniParc]. Checksum: 22EAA0CCC530DB75	FASTA	637	72,522
	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 ELDMQNIQDN LAKHLSEGQK RKLTFGITIL GDPQIEK
	Isoform 3 [UniParc]. Checksum: 6B47A3A9A8EAE2A4	FASTA	185	21,356
	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 DFSGDFPYQI SLWNFSCFQH KEQRRLGNRD AFNDT

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. 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 , 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.
IPI	IPI00295640. IPI00787668. IPI00787757.
RefSeq	NP_525023.2. NM_080284.2.
UniGene	Hs.709514.
3D structure databases
ProteinModelPortal	Q8N139.
SMR	Q8N139. Positions 477-706, 1275-1508.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N139. 1 interaction.
STRING	9606.ENSP00000284425.
PTM databases
PhosphoSite	Q8N139.
Polymorphism databases
DMDM	115503764.
Proteomic databases
PaxDb	Q8N139.
PRIDE	Q8N139.
Protocols and materials databases
DNASU	23460.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284425; ENSP00000284425; ENSG00000154262. ENST00000590645; ENSP00000466862; ENSG00000154262.
GeneID	23460.
KEGG	hsa:23460.
UCSC	uc002jhw.1. human. uc002jhy.3. human.
Organism-specific databases
CTD	23460.
GeneCards	GC17M067074.
H-InvDB	HIX0014121.
HGNC	HGNC:36. ABCA6.
MIM	612504. gene.
neXtProt	NX_Q8N139.
PharmGKB	PA24381.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000231057.
HOVERGEN	HBG079884.
InParanoid	Q8N139.
KO	K05649.
OMA	CFQHQRT.
OrthoDB	EOG40P45W.
PhylomeDB	Q8N139.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q8N139.
Bgee	Q8N139.
CleanEx	HS_ABCA6.
Genevestigator	Q8N139.
GermOnline	ENSG00000154262. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. [Graphical view]
PANTHER	PTHR19229. PTHR19229. 1 hit.
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. False negative. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ABCA6. human.
GenomeRNAi	23460.
NextBio	45761.
SOURCE	Search...

Entry information

Entry name

ABCA6_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.