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Protein

ATP-binding cassette sub-family A member 5

Gene

ABCA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi514 – 521ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1333 – 1340ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • cholesterol efflux Source: BHF-UCL
  • high-density lipoprotein particle remodeling Source: BHF-UCL
  • lipid transport Source: GO_Central
  • negative regulation of macrophage derived foam cell differentiation Source: BHF-UCL
  • reverse cholesterol transport Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000154265-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Protein family/group databases

TCDBi3.A.1.211.9. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 5
Gene namesi
Name:ABCA5
Synonyms:KIAA1888
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:35. ABCA5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Transmembranei220 – 240HelicalSequence analysisAdd BLAST21
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei396 – 416HelicalSequence analysisAdd BLAST21
Transmembranei866 – 886HelicalSequence analysisAdd BLAST21
Transmembranei967 – 987HelicalSequence analysisAdd BLAST21
Transmembranei1021 – 1041HelicalSequence analysisAdd BLAST21
Transmembranei1071 – 1091HelicalSequence analysisAdd BLAST21
Transmembranei1102 – 1122HelicalSequence analysisAdd BLAST21
Transmembranei1139 – 1159HelicalSequence analysisAdd BLAST21
Transmembranei1169 – 1189HelicalSequence analysisAdd BLAST21
Transmembranei1207 – 1227HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • intracellular membrane-bounded organelle Source: GO_Central
  • late endosome Source: BHF-UCL
  • late endosome membrane Source: UniProtKB-SubCell
  • lysosomal membrane Source: UniProtKB-SubCell
  • lysosome Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Golgi apparatus, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23461.
MalaCardsiABCA5.
OpenTargetsiENSG00000154265.
Orphaneti2026. Gingival fibromatosis-hypertrichosis syndrome.
PharmGKBiPA24380.

Chemistry databases

DrugBankiDB00864. Tacrolimus.

Polymorphism and mutation databases

BioMutaiABCA5.
DMDMi115503762.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002506691 – 1642ATP-binding cassette sub-family A member 5Add BLAST1642

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi86N-linked (GlcNAc...)Sequence analysis1
Glycosylationi458N-linked (GlcNAc...)Sequence analysis1
Glycosylationi996N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8WWZ7.
MaxQBiQ8WWZ7.
PaxDbiQ8WWZ7.
PeptideAtlasiQ8WWZ7.
PRIDEiQ8WWZ7.

PTM databases

iPTMnetiQ8WWZ7.
PhosphoSitePlusiQ8WWZ7.

Expressioni

Tissue specificityi

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

Developmental stagei

Expressed in fetal liver, kidney and brain.1 Publication

Gene expression databases

BgeeiENSG00000154265.
CleanExiHS_ABCA5.
ExpressionAtlasiQ8WWZ7. baseline and differential.
GenevisibleiQ8WWZ7. HS.

Organism-specific databases

HPAiHPA022032.
HPA062904.

Interactioni

Protein-protein interaction databases

BioGridi117024. 2 interactors.
IntActiQ8WWZ7. 2 interactors.
STRINGi9606.ENSP00000376443.

Structurei

3D structure databases

ProteinModelPortaliQ8WWZ7.
SMRiQ8WWZ7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini478 – 713ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1290 – 1533ABC transporter 2PROSITE-ProRule annotationAdd BLAST244

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000231057.
HOVERGENiHBG079884.
InParanoidiQ8WWZ7.
KOiK05648.
OMAiYIDRYCA.
OrthoDBiEOG091G00AG.
PhylomeDBiQ8WWZ7.
TreeFamiTF105192.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030367. ABCA5.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PTHR19229:SF100. PTHR19229:SF100. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WWZ7-1) [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
MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS
60 70 80 90 100
MMHPNKKYEE VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL
110 120 130 140 150
PDVIITEEYT NEKEMLTSSL SKPSNFVGVV FKDSMSYELR FFPDMIPVSS
160 170 180 190 200
IYMDSRAGCS KSCEAAQYWS SGFTVLQASI DAAIIQLKTN VSLWKELEST
210 220 230 240 250
KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI VAEKEKKIKE
260 270 280 290 300
FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF
310 320 330 340 350
LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES
360 370 380 390 400
FPKSLVWLFS PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI
410 420 430 440 450
IMLTLNSIFY VLLAVYLDQV IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL
460 470 480 490 500
SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI SGIQKTYRKK GENVEALRNL
510 520 530 540 550
SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI YGHRVSEIDE
560 570 580 590 600
MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL
610 620 630 640 650
DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR
660 670 680 690 700
HIVWNLLKYR KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL
710 720 730 740 750
KSKWGIGYRL SMYIDKYCAT ESLSSLVKQH IPGATLLQQN DQQLVYSLPF
760 770 780 790 800
KDMDKFSGLF SALDSHSNLG VISYGVSMTT LEDVFLKLEV EAEIDQADYS
810 820 830 840 850
VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW KQQMYTIAKF
860 870 880 890 900
HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY
910 920 930 940 950
FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV
960 970 980 990 1000
APHSAALNVM HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET
1010 1020 1030 1040 1050
IQIWSTPFFQ EITDIVFKIE LYFQAALLGI IVTAMPPYFA MENAENHKIK
1060 1070 1080 1090 1100
AYTQLKLSGL LPSAYWIGQA VVDIPLFFII LILMLGSLLA FHYGLYFYTV
1110 1120 1130 1140 1150
KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI YSVAALACIA
1160 1170 1180 1190 1200
ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT
1210 1220 1230 1240 1250
YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS
1260 1270 1280 1290 1300
KNRKLPEPPD NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD
1310 1320 1330 1340 1350
DKKDFLLSRK VKKVATKYIS FCVKKGEILG LLGPNGAGKS TIINILVGDI
1360 1370 1380 1390 1400
EPTSGQVFLG DYSSETSEDD DSLKCMGYCP QINPLWPDTT LQEHFEIYGA
1410 1420 1430 1440 1450
VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK LCFALSMLGN
1460 1470 1480 1490 1500
PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC
1510 1520 1530 1540 1550
DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI
1560 1570 1580 1590 1600
QYIFPNASRQ ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF
1610 1620 1630 1640
SQATLEQVFV ELTKEQEEED NSCGTLNSTL WWERTQEDRV VF
Length:1,642
Mass (Da):186,508
Last modified:October 3, 2006 - v2
Checksum:i608809E8539804BF
GO
Isoform 2 (identifier: Q8WWZ7-2) [UniParc]FASTAAdd to basket
Also known as: V20+16

The sequence of this isoform differs from the canonical sequence as follows:
     922-925: DSDI → GESV
     926-1642: Missing.

Show »
Length:925
Mass (Da):104,364
Checksum:iEF5D6A281832CE47
GO
Isoform 3 (identifier: Q8WWZ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-777: Missing.

Note: No experimental confirmation available.
Show »
Length:865
Mass (Da):99,273
Checksum:iF0A7BF87007E321F
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1215Y → H in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1357V → I in CAB93535 (PubMed:12504089).Curated1
Sequence conflicti1366T → S in CAB93535 (PubMed:12504089).Curated1
Sequence conflicti1371D → G in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1419A → G in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1523K → R in BAB71208 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02757193Q → K.Corresponds to variant rs12383dbSNPEnsembl.1
Natural variantiVAR_048128178A → T.1 PublicationCorresponds to variant rs11544715dbSNPEnsembl.1
Natural variantiVAR_027572484Q → R.1 PublicationCorresponds to variant rs17686569dbSNPEnsembl.1
Natural variantiVAR_027573753M → V.Corresponds to variant rs9898003dbSNPEnsembl.1
Natural variantiVAR_027574832A → S.3 PublicationsCorresponds to variant rs536009dbSNPEnsembl.1
Natural variantiVAR_027575960M → V.1 PublicationCorresponds to variant rs557491dbSNPEnsembl.1
Natural variantiVAR_0481291260D → G.Corresponds to variant rs11544716dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0206901 – 777Missing in isoform 3. 1 PublicationAdd BLAST777
Alternative sequenceiVSP_020691922 – 925DSDI → GESV in isoform 2. 1 Publication4
Alternative sequenceiVSP_020692926 – 1642Missing in isoform 2. 1 PublicationAdd BLAST717

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11685.1. [Q8WWZ7-1]
RefSeqiNP_061142.2. NM_018672.4. [Q8WWZ7-1]
NP_758424.1. NM_172232.3. [Q8WWZ7-1]
UniGeneiHs.731824.

Genome annotation databases

EnsembliENST00000392676; ENSP00000376443; ENSG00000154265. [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265. [Q8WWZ7-1]
GeneIDi23461.
KEGGihsa:23461.
UCSCiuc002jif.3. human. [Q8WWZ7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11685.1. [Q8WWZ7-1]
RefSeqiNP_061142.2. NM_018672.4. [Q8WWZ7-1]
NP_758424.1. NM_172232.3. [Q8WWZ7-1]
UniGeneiHs.731824.

3D structure databases

ProteinModelPortaliQ8WWZ7.
SMRiQ8WWZ7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117024. 2 interactors.
IntActiQ8WWZ7. 2 interactors.
STRINGi9606.ENSP00000376443.

Chemistry databases

DrugBankiDB00864. Tacrolimus.

Protein family/group databases

TCDBi3.A.1.211.9. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiQ8WWZ7.
PhosphoSitePlusiQ8WWZ7.

Polymorphism and mutation databases

BioMutaiABCA5.
DMDMi115503762.

Proteomic databases

EPDiQ8WWZ7.
MaxQBiQ8WWZ7.
PaxDbiQ8WWZ7.
PeptideAtlasiQ8WWZ7.
PRIDEiQ8WWZ7.

Protocols and materials databases

DNASUi23461.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392676; ENSP00000376443; ENSG00000154265. [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265. [Q8WWZ7-1]
GeneIDi23461.
KEGGihsa:23461.
UCSCiuc002jif.3. human. [Q8WWZ7-1]

Organism-specific databases

CTDi23461.
DisGeNETi23461.
GeneCardsiABCA5.
HGNCiHGNC:35. ABCA5.
HPAiHPA022032.
HPA062904.
MalaCardsiABCA5.
MIMi612503. gene.
neXtProtiNX_Q8WWZ7.
OpenTargetsiENSG00000154265.
Orphaneti2026. Gingival fibromatosis-hypertrichosis syndrome.
PharmGKBiPA24380.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000231057.
HOVERGENiHBG079884.
InParanoidiQ8WWZ7.
KOiK05648.
OMAiYIDRYCA.
OrthoDBiEOG091G00AG.
PhylomeDBiQ8WWZ7.
TreeFamiTF105192.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000154265-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSiABCA5. human.
GenomeRNAii23461.
PROiQ8WWZ7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154265.
CleanExiHS_ABCA5.
ExpressionAtlasiQ8WWZ7. baseline and differential.
GenevisibleiQ8WWZ7. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030367. ABCA5.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PTHR19229:SF100. PTHR19229:SF100. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCA5_HUMAN
AccessioniPrimary (citable) accession number: Q8WWZ7
Secondary accession number(s): Q8IVJ2
, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: November 2, 2016
This is version 114 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.