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Protein

ATP-binding cassette sub-family A member 6

Gene

ABCA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi514 – 521ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1320 – 1327ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Protein family/group databases

TCDBi3.A.1.211.15 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 6
Gene namesi
Name:ABCA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000154262.12
HGNCiHGNC:36 ABCA6
MIMi612504 gene
neXtProtiNX_Q8N139

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei31 – 51HelicalSequence analysisAdd BLAST21
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Transmembranei327 – 347HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei397 – 417HelicalSequence analysisAdd BLAST21
Transmembranei854 – 874HelicalSequence analysisAdd BLAST21
Transmembranei1007 – 1027HelicalSequence analysisAdd BLAST21
Transmembranei1062 – 1082HelicalSequence analysisAdd BLAST21
Transmembranei1094 – 1114HelicalSequence analysisAdd BLAST21
Transmembranei1127 – 1147HelicalSequence analysisAdd BLAST21
Transmembranei1150 – 1170HelicalSequence analysisAdd BLAST21
Transmembranei1194 – 1214HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23460
OpenTargetsiENSG00000154262
PharmGKBiPA24381

Polymorphism and mutation databases

BioMutaiABCA6
DMDMi115503764

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002506721 – 1617ATP-binding cassette sub-family A member 6Add BLAST1617

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi940N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N139
PaxDbiQ8N139
PeptideAtlasiQ8N139
PRIDEiQ8N139
ProteomicsDBi71545
71546 [Q8N139-2]
71547 [Q8N139-3]
TopDownProteomicsiQ8N139-3 [Q8N139-3]

PTM databases

iPTMnetiQ8N139
PhosphoSitePlusiQ8N139

Expressioni

Tissue specificityi

Widely expressed with higher expression in liver.2 Publications

Developmental stagei

Expressed in fetal kidney, lung and liver.1 Publication

Inductioni

Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.1 Publication

Gene expression databases

BgeeiENSG00000154262 Expressed in 153 organ(s), highest expression level in right lung
CleanExiHS_ABCA6
GenevisibleiQ8N139 HS

Organism-specific databases

HPAiHPA064878
HPA067180

Interactioni

Protein-protein interaction databases

BioGridi117023, 1 interactor
IntActiQ8N139, 1 interactor
STRINGi9606.ENSP00000284425

Structurei

3D structure databases

ProteinModelPortaliQ8N139
SMRiQ8N139
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini478 – 713ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1288 – 1513ABC transporter 2PROSITE-ProRule annotationAdd BLAST226

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000231057
HOVERGENiHBG079884
InParanoidiQ8N139
KOiK05649
OMAiCFQHQRT
OrthoDBiEOG091G00AG
PhylomeDBiQ8N139
TreeFamiTF105192

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR026082 ABCA
IPR030368 ABCA6
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF13 PTHR19229:SF13, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N139-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MNMKQKSVYQ QTKALLCKNF LKKWRMKRES LLEWGLSILL GLCIALFSSS
60 70 80 90 100
MRNVQFPGMA PQNLGRVDKF NSSSLMVVYT PISNLTQQIM NKTALAPLLK
110 120 130 140 150
GTSVIGAPNK THMDEILLEN LPYAMGIIFN ETFSYKLIFF QGYNSPLWKE
160 170 180 190 200
DFSAHCWDGY GEFSCTLTKY WNRGFVALQT AINTAIIEIT TNHPVMEELM
210 220 230 240 250
SVTAITMKTL PFITKNLLHN EMFILFFLLH FSPLVYFISL NVTKERKKSK
260 270 280 290 300
NLMKMMGLQD SAFWLSWGLI YAGFIFIISI FVTIIITFTQ IIVMTGFMVI
310 320 330 340 350
FILFFLYGLS LVALVFLMSV LLKKAVLTNL VVFLLTLFWG CLGFTVFYEQ
360 370 380 390 400
LPSSLEWILN ICSPFAFTTG MIQIIKLDYN LNGVIFPDPS GDSYTMIATF
410 420 430 440 450
SMLLLDGLIY LLLALYFDKI LPYGDERHYS PLFFLNSSSC FQHQRTNAKV
460 470 480 490 500
IEKEIDAEHP SDDYFEPVAP EFQGKEAIRI RNVKKEYKGK SGKVEALKGL
510 520 530 540 550
LFDIYEGQIT AILGHSGAGK SSLLNILNGL SVPTEGSVTI YNKNLSEMQD
560 570 580 590 600
LEEIRKITGV CPQFNVQFDI LTVKENLSLF AKIKGIHLKE VEQEVQRILL
610 620 630 640 650
ELDMQNIQDN LAKHLSEGQK RKLTFGITIL GDPQILLLDE PTTGLDPFSR
660 670 680 690 700
DQVWSLLRER RADHVILFST QSMDEADILA DRKVIMSNGR LKCAGSSMFL
710 720 730 740 750
KRRWGLGYHL SLHRNEICNP EQITSFITHH IPDAKLKTEN KEKLVYTLPL
760 770 780 790 800
ERTNTFPDLF SDLDKCSDQG VTGYDISMST LNEVFMKLEG QSTIEQDFEQ
810 820 830 840 850
VEMIRDSESL NEMELAHSSF SEMQTAVSDM GLWRMQVFAM ARLRFLKLKR
860 870 880 890 900
QTKVLLTLLL VFGIAIFPLI VENIMYAMLN EKIDWEFKNE LYFLSPGQLP
910 920 930 940 950
QEPRTSLLII NNTESNIEDF IKSLKHQNIL LEVDDFENRN GTDGLSYNGA
960 970 980 990 1000
IIVSGKQKDY RFSVVCNTKR LHCFPILMNI ISNGLLQMFN HTQHIRIESS
1010 1020 1030 1040 1050
PFPLSHIGLW TGLPDGSFFL FLVLCSISPY ITMGSISDYK KNAKSQLWIS
1060 1070 1080 1090 1100
GLYTSAYWCG QALVDVSFFI LILLLMYLIF YIENMQYLLI TSQIVFALVI
1110 1120 1130 1140 1150
VTPGYAASLV FFIYMISFIF RKRRKNSGLW SFYFFFASTI MFSITLINHF
1160 1170 1180 1190 1200
DLSILITTMV LVPSYTLLGF KTFLEVRDQE HYREFPEANF ELSATDFLVC
1210 1220 1230 1240 1250
FIPYFQTLLF VFVLRCMELK CGKKRMRKDP VFRISPQSRD AKPNPEEPID
1260 1270 1280 1290 1300
EDEDIQTERI RTATALTTSI LDEKPVIIAS CLHKEYAGQK KSCFSKRKKK
1310 1320 1330 1340 1350
IAARNISFCV QEGEILGLLG PNGAGKSSSI RMISGITKPT AGEVELKGCS
1360 1370 1380 1390 1400
SVLGHLGYCP QENVLWPMLT LREHLEVYAA VKGLRKADAR LAIARLVSAF
1410 1420 1430 1440 1450
KLHEQLNVPV QKLTAGITRK LCFVLSLLGN SPVLLLDEPS TGIDPTGQQQ
1460 1470 1480 1490 1500
MWQAIQAVVK NTERGVLLTT HNLAEAEALC DRVAIMVSGR LRCIGSIQHL
1510 1520 1530 1540 1550
KNKLGKDYIL ELKVKETSQV TLVHTEILKL FPQAAGQERY SSLLTYKLPV
1560 1570 1580 1590 1600
ADVYPLSQTF HKLEAVKHNF NLEEYSLSQC TLEKVFLELS KEQEVGNFDE
1610
EIDTTMRWKL LPHSDEP
Length:1,617
Mass (Da):184,286
Last modified:October 3, 2006 - v2
Checksum:i73940D8050B0A3CA
GO
Isoform 2 (identifier: Q8N139-2) [UniParc]FASTAAdd to basket
Also known as: ABCA6delta-139

The sequence of this isoform differs from the canonical sequence as follows:
     636-637: LL → EK
     638-1617: Missing.

Show »
Length:637
Mass (Da):72,522
Checksum:i22EAA0CCC530DB75
GO
Isoform 3 (identifier: Q8N139-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     154-185: AHCWDGYGEFSCTLTKYWNRGFVALQTAINTA → GDFPYQISLWNFSCFQHKEQRRLGNRDAFNDT
     186-1617: Missing.

Note: No experimental confirmation available.
Show »
Length:185
Mass (Da):21,356
Checksum:i6B47A3A9A8EAE2A4
GO

Sequence cautioni

The sequence AAM77557 differs from that shown. Reason: Frameshift at positions 998 and 1000.Curated
The sequence AAM77558 differs from that shown. Reason: Frameshift at positions 998 and 1000.Curated
The sequence BAC04994 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51M → L in AAH70125 (PubMed:15489334).Curated1
Sequence conflicti147L → R in AAH70125 (PubMed:15489334).Curated1
Sequence conflicti812E → G in BAC04994 (PubMed:14702039).Curated1
Sequence conflicti875 – 876MY → IH in BAC04994 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027576282V → I1 PublicationCorresponds to variant dbSNP:rs4968839Ensembl.1
Natural variantiVAR_027577610N → Y. Corresponds to variant dbSNP:rs9282554Ensembl.1
Natural variantiVAR_027578698M → I. Corresponds to variant dbSNP:rs9282553Ensembl.1
Natural variantiVAR_027579875M → I1 PublicationCorresponds to variant dbSNP:rs7212506Ensembl.1
Natural variantiVAR_0275801322N → S2 PublicationsCorresponds to variant dbSNP:rs2302134Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020695154 – 185AHCWD…AINTA → GDFPYQISLWNFSCFQHKEQ RRLGNRDAFNDT in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_020696186 – 1617Missing in isoform 3. 1 PublicationAdd BLAST1432
Alternative sequenceiVSP_020697636 – 637LL → EK in isoform 2. Curated2
Alternative sequenceiVSP_020698638 – 1617Missing in isoform 2. CuratedAdd BLAST980

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11683.1 [Q8N139-1]
RefSeqiNP_525023.2, NM_080284.2 [Q8N139-1]
XP_016879893.1, XM_017024404.1 [Q8N139-1]
XP_016879894.1, XM_017024405.1 [Q8N139-1]
UniGeneiHs.709514

Genome annotation databases

EnsembliENST00000284425; ENSP00000284425; ENSG00000154262 [Q8N139-1]
ENST00000590645; ENSP00000466862; ENSG00000154262 [Q8N139-3]
GeneIDi23460
KEGGihsa:23460
UCSCiuc002jhw.2 human [Q8N139-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11683.1 [Q8N139-1]
RefSeqiNP_525023.2, NM_080284.2 [Q8N139-1]
XP_016879893.1, XM_017024404.1 [Q8N139-1]
XP_016879894.1, XM_017024405.1 [Q8N139-1]
UniGeneiHs.709514

3D structure databases

ProteinModelPortaliQ8N139
SMRiQ8N139
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117023, 1 interactor
IntActiQ8N139, 1 interactor
STRINGi9606.ENSP00000284425

Protein family/group databases

TCDBi3.A.1.211.15 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ8N139
PhosphoSitePlusiQ8N139

Polymorphism and mutation databases

BioMutaiABCA6
DMDMi115503764

Proteomic databases

EPDiQ8N139
PaxDbiQ8N139
PeptideAtlasiQ8N139
PRIDEiQ8N139
ProteomicsDBi71545
71546 [Q8N139-2]
71547 [Q8N139-3]
TopDownProteomicsiQ8N139-3 [Q8N139-3]

Protocols and materials databases

DNASUi23460
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284425; ENSP00000284425; ENSG00000154262 [Q8N139-1]
ENST00000590645; ENSP00000466862; ENSG00000154262 [Q8N139-3]
GeneIDi23460
KEGGihsa:23460
UCSCiuc002jhw.2 human [Q8N139-1]

Organism-specific databases

CTDi23460
DisGeNETi23460
EuPathDBiHostDB:ENSG00000154262.12
GeneCardsiABCA6
H-InvDBiHIX0014121
HGNCiHGNC:36 ABCA6
HPAiHPA064878
HPA067180
MIMi612504 gene
neXtProtiNX_Q8N139
OpenTargetsiENSG00000154262
PharmGKBiPA24381
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000231057
HOVERGENiHBG079884
InParanoidiQ8N139
KOiK05649
OMAiCFQHQRT
OrthoDBiEOG091G00AG
PhylomeDBiQ8N139
TreeFamiTF105192

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Miscellaneous databases

ChiTaRSiABCA6 human
GenomeRNAii23460
PROiPR:Q8N139
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154262 Expressed in 153 organ(s), highest expression level in right lung
CleanExiHS_ABCA6
GenevisibleiQ8N139 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR026082 ABCA
IPR030368 ABCA6
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF13 PTHR19229:SF13, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiABCA6_HUMAN
AccessioniPrimary (citable) accession number: Q8N139
Secondary accession number(s): Q6NSH9, Q8N856, Q8WWZ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: September 12, 2018
This is version 128 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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