• Gene id: 23461

Gene Summary

• Gene Symbol: ABCA5   Gene   UCSC   Ensembl
• Aliases: ABC13, EST90625, HTC3
• Gene name: ATP binding cassette subfamily A member 5
• Alternate names: ATP-binding cassette sub-family A member 5, ATP-binding cassette A5, ATP-binding cassette, sub-family A (ABC1), member 5,
• Gene location: 17q24.3 (69327132: 69244310)     Exons: 39     NC_000017.11
• Gene summary(Entrez): 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 s
• OMIM: 612503

Protein Summary

• Protein general information: Q8WWZ7  
  • Name: ATP binding cassette sub family A member 5
  • Length: 1642  
  • Mass: 186508
  • Tissue specificity: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. {ECO
• Sequence:

  MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEEVPNIELNPMDKFTLS
  NLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSLSKPSNFVGVVFKDSMSYELRFFPDMIPVSS
  IYMDSRAGCSKSCEAAQYWSSGFTVLQASIDAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYL
  VIAFSPFGYFLAIHIVAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIF
  LLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFSPFCHCTFVIGIAQVM
  HLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQVIPGEFGLRRSSLYFLKPSYWSKSKRNYEEL
  SEGNVNGNISFSEIIEPVSSEFVGKEAIRISGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMN
  ILCGLCPPSDGFASIYGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLL
  DLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYRKANRVTVFSTHFMDE
  ADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCATESLSSLVKQHIPGATLLQQNDQQLVYSLPF
  KDMDKFSGLFSALDSHSNLGVISYGVSMTTLEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLI
  LSETKAALVSTMSLWKQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLY
  FLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVMHSEKDYVFAAVFNST
  MVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIELYFQAALLGIIVTAMPPYFAMENAENHKIK
  AYTQLKLSGLLPSAYWIGQAVVDIPLFFIILILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASF
  TFKKILNTKEFWSFIYSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDT
  YNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPDNEDEDEDVKAERLKV
  KELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYISFCVKKGEILGLLGPNGAGKSTIINILVGDI
  EPTSGQVFLGDYSSETSEDDDSLKCMGYCPQINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEH
  LQKTVKKLPAGIKRKLCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVC
  DRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQESFSSILAYKIPKED
  VQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEEDNSCGTLNSTLWWERTQEDRVVF

• Structural information:
  • Protein Domains: (478..71-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (1290..153-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR030367   IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000376443
• Other Databases: GeneCards:  ABCA5  Malacards:  ABCA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005770	late endosome	IBA	cellular component
GO:0006869	lipid transport	IBA	biological process
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0030301	cholesterol transport	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0034375	high-density lipoprotein particle remodeling	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0043691	reverse cholesterol transport	IC	biological process
GO:0005764	lysosome	ISS	cellular component
GO:0010745	negative regulation of macrophage derived foam cell differentiation	ISS	biological process
GO:0033344	cholesterol efflux	ISS	biological process
GO:0034375	high-density lipoprotein particle remodeling	ISS	biological process
GO:0005770	late endosome	ISS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Gingival fibromatosis with hypertrichosis	KEGG:H02417
Gingival fibromatosis with hypertrichosis	KEGG:H02417
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881