• Gene id: 6890

Gene Summary

• Gene Symbol: TAP1   Gene   UCSC   Ensembl
• Aliases: ABC17, ABCB2, APT1, D6S114E, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N
• Gene name: transporter 1, ATP binding cassette subfamily B member
• Alternate names: antigen peptide transporter 1, ABC transporter, MHC 1, ATP-binding cassette sub-family B member 2, ATP-binding cassette, sub-family B (MDR/TAP), member 2, peptide supply factor 1, peptide transporter PSF1, peptide transporter TAP1, peptide transporter involved i,
• Gene location: 6p21.32 (32853970: 32845208)     Exons: 12     NC_000006.12
• 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 intra-cellular membranes. ABC genes are divided into seven distinct
• OMIM: 170260

Protein Summary

• Protein general information: Q03518  
  • Name: Antigen peptide transporter 1 (APT1) (ATP binding cassette sub family B member 2) (Peptide supply factor 1) (Peptide transporter PSF1) (PSF 1) (Peptide transporter TAP1) (Peptide transporter involved in antigen processing 1) (Really interesting new gene 4
  • Length: 808  
  • Mass: 87218
• Sequence:

  MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVPMASSRCPAPRGCRCL
  PGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATVGSKSENAGAQ
  GWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVPGG
  QGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
  LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLC
  LLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKF
  REKLQEIKTLNQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIY
  PRVQKAVGSSEKIFEYLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPN
  GSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAYGLTQKPTMEEITAA
  AVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQVEQLLYESPE
  RYSRSVLLITQHLSLVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE

• Structural information:
  • Protein Domains: (247..53-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (563..80-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR013305  IPR003439   IPR017871  IPR027417  IPR013306  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 1JJ7 5U1D
  • PDBsum: 1JJ7 5U1D
  • DIP: 35626
  • STRING: ENSP00000346206
• Other Databases: GeneCards:  TAP1  Malacards:  TAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015433	ATPase-coupled peptide antigen transmembrane transporter activity	IBA	molecular function
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IBA	molecular function
GO:0015833	peptide transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0042824	MHC class I peptide loading complex	IBA	cellular component
GO:0046979	TAP2 binding	IBA	molecular function
GO:0042288	MHC class I protein binding	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	IEA	biological process
GO:0015433	ATPase-coupled peptide antigen transmembrane transporter activity	IEA	molecular function
GO:0015833	peptide transport	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0042825	TAP complex	IEA	cellular component
GO:0046979	TAP2 binding	IEA	molecular function
GO:1904680	peptide transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0042287	MHC protein binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0015833	peptide transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006952	defense response	IEA	biological process
GO:0042288	MHC class I protein binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0042825	TAP complex	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0042825	TAP complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0042825	TAP complex	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0042824	MHC class I peptide loading complex	IDA	cellular component
GO:0043531	ADP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0046979	TAP2 binding	IPI	molecular function
GO:0046979	TAP2 binding	IPI	molecular function
GO:0046979	TAP2 binding	IPI	molecular function
GO:0046967	cytosol to endoplasmic reticulum transport	IMP	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0042605	peptide antigen binding	NAS	molecular function
GO:0015833	peptide transport	IMP	biological process
GO:1904680	peptide transmembrane transporter activity	IGI	contributes to
GO:0023029	MHC class Ib protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP	biological process
GO:0015833	peptide transport	IMP	biological process
GO:1904680	peptide transmembrane transporter activity	IMP	molecular function
GO:0046978	TAP1 binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa04145	Phagosome
hsa04612	Antigen processing and presentation
hsa02010	ABC transporters
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type1	KEGG:H00984
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type1	KEGG:H00984
open-angle glaucoma	PMID:15887980
Diffuse scleroderma	PMID:16112028
Asthma	PMID:12640628
Esophagus squamous cell carcinoma	PMID:19492245
cervical cancer	PMID:12648582
cervical cancer	PMID:18248301
Schizophrenia	PMID:19217216
Reactive arthritis	PMID:7748224
Ankylosing spondylitis	PMID:19480848
Psoriasis	PMID:11194890
Bronchiectasis	PMID:17245734
type 1 diabetes mellitus	PMID:9129974
type 1 diabetes mellitus	PMID:9458110
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)