• Gene id: 340273

Gene Summary

• Gene Symbol: ABCB5   Gene   UCSC   Ensembl
• Aliases: ABCB5alpha, ABCB5beta, EST422562
• Gene name: ATP binding cassette subfamily B member 5
• Alternate names: ATP-binding cassette sub-family B member 5, ABCB5 P-gp, ATP-binding cassette protein, ATP-binding cassette, sub-family B (MDR/TAP), member 5, P-glycoprotein ABCB5,
• Gene location: 7p21.1 (20615666: 20757007)     Exons: 11     NC_000007.14
• Gene summary(Entrez): ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to m
• OMIM: 611785

Protein Summary

• Protein general information: Q2M3G0  
  • Name: ATP binding cassette sub family B member 5 (ABCB5 P gp) (P glycoprotein ABCB5)
  • Length: 1257  
  • Mass: 138641
  • Tissue specificity: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues
• Sequence:

  MENSERAEEMQENYQRNGTAEEQPKLRKEAVGSIEIFRFADGLDITLMILGILASLVNGACLPLMPLVLGEMSDN
  LISGCLVQTNTTNYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIFGYIQISLWIITAARQTKRIRKQFFHSVLAQ
  DIGWFDSCDIGELNTRMTDDIDKISDGIGDKIALLFQNMSTFSIGLAVGLVKGWKLTLVTLSTSPLIMASAAACS
  RMVISLTSKELSAYSKAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNG
  TYGLAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIFQVIDKKPSIDNFSTA
  GYKPESIEGTVEFKNVSFNYPSRPSIKILKGLNLRIKSGETVALVGLNGSGKSTVVQLLQRLYDPDDGFIMVDEN
  DIRALNVRHYRDHIGVVSQEPVLFGTTISNNIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQM
  SGGQKQRIAIARALVRNPKILILDEATSALDSESKSAVQAALEKASKGRTTIVVAHRLSTIRSADLIVTLKDGML
  AEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAEESTQSKEISLPE
  VSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILGVICFVSY
  FMQGLFYGRAGEILTMRLRHLAFKAMLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGL
  SVIISFIYGWEMTFLILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMY
  EEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEGMFIVFTAIAYGAMAIGETLVLA
  PEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFFYPCRPDVFILRGLSLSIERGKTVAFVG
  SSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEI
  KEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDK
  ARTGRTCLVVTHRLSAIQNADLIVVLHNGKIKEQGTHQELLRNRDIYFKLVNAQSVQ

• Structural information:
  • Protein Domains: (49..35-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (386..62-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (693..98-)
    type-1 (/note="ABC-transmembrane)
    (-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000384881
• Other Databases: GeneCards:  ABCB5  Malacards:  ABCB5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055085	transmembrane transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0001654	eye development	ISS	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:0030154	cell differentiation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0001654	eye development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0015562	efflux transmembrane transporter activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)