ABCA5 (ATP binding cassette subfamily A member 5)

Gene

• Entrez ID: 23461
• Gene name: ATP binding cassette subfamily A member 5
• Gene symbol: ABCA5
• Synonyms: ABC13, EST90625, HTC3
• Chromosome: 17
• Chromosome location: 17q24.3
• Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199753304	C>A,G,T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017298	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	ISS	15870284
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005770	Component	Late endosome	IBA	21873635
GO:0005770	Component	Late endosome	ISS	15870284
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	ISS	20382126
GO:0016021	Component	Integral component of membrane	IEA
GO:0016887	Function	ATPase activity	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0033344	Process	Cholesterol efflux	ISS	20382126
GO:0034375	Process	High-density lipoprotein particle remodeling	ISS	20382126
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043691	Process	Reverse cholesterol transport	IC	20382126
GO:0055085	Process	Transmembrane transport	TAS

Other IDs

• MIM: 612503
• HGNC: 35
• e!Ensembl: ENSG00000154265

Protein

• UniProt ID: Q8WWZ7
• Protein name: Cholesterol transporter ABCA5 (EC 7.6.2.-) (ATP-binding cassette sub-family A member 5)
• Protein function: Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport (PubMed:25125465). May play a role in the processing of autolysosomes (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	29 → 416		Family
  PF00005	ABC_tran	497 → 643	ABC transporter	Domain
  PF12698	ABC2_membrane_3	850 → 1226		Family
  PF00005	ABC_tran	1316 → 1461	ABC transporter	Domain

• Sequence:

  MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEE
  VPNIELNPMDKFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSL
  SKPSNFVGVVFKDSMSYELRFFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASI
  DAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYLVIAFSPFGYFLAIHI
  VAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIF
  LLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFS
  PFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQV
  IPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRI
  SGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASI
  YGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLL
  DLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYR
  KANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCAT
  ESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLGVISYGVSMTT
  LEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLW
  KQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLY
  FLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVM
  HSEKDYVFAAVFNSTMVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIE
  LYFQAALLGIIVTAMPPYFAMENAENHKIKAYTQLKLSGLLPSAYWIGQAVVDIPLFFII
  LILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASFTFKKILNTKEFWSFI
  YSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDT
  YNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPD
  NEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYIS
  FCVKKGEILGLLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCP
  QINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRK
  LCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVC
  DRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQ
  ESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEED
  NSCGTLNSTLWWERTQEDRVVF

• Sequence length: 1642