TAP1 (transporter 1, ATP binding cassette subfamily B member)

Gene

• Entrez ID: 6890
• Gene name: Transporter 1, ATP binding cassette subfamily B member
• Gene symbol: TAP1
• Synonyms: ABC17, ABCB2, APT1, D6S114E, MHC1D1, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N
• Chromosome: 6
• Chromosome location: 6p21.32
• 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 intra-cellular membranes. ABC genes are divided into seven distinct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228106	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs56366814	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs121917702	C>T	Pathogenic, likely-benign	Missense variant, coding sequence variant
rs1470217821	G>C	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006669	hsa-miR-346	Immunocytochemistry, In situ hybridization, qRT-PCR, Western blot	22002058
MIRT735979	hsa-miR-200a-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32923135
MIRT756196	hsa-miR-330-3p	Luciferase reporter assay, qRT-PCR	36119061
MIRT1411097	hsa-miR-1253	CLIP-seq
MIRT1411098	hsa-miR-1321	CLIP-seq
MIRT1411099	hsa-miR-4419a	CLIP-seq
MIRT1411100	hsa-miR-4510	CLIP-seq
MIRT1411101	hsa-miR-4728-5p	CLIP-seq
MIRT1411102	hsa-miR-4739	CLIP-seq
MIRT1411103	hsa-miR-4756-5p	CLIP-seq
MIRT2123442	hsa-miR-3145-5p	CLIP-seq
MIRT2123443	hsa-miR-508-5p	CLIP-seq
MIRT2123444	hsa-miR-665	CLIP-seq
MIRT2345486	hsa-miR-151-5p	CLIP-seq
MIRT2345487	hsa-miR-151b	CLIP-seq
MIRT2345488	hsa-miR-28-5p	CLIP-seq
MIRT2345489	hsa-miR-3139	CLIP-seq
MIRT2345490	hsa-miR-3173-3p	CLIP-seq
MIRT2345491	hsa-miR-3922-5p	CLIP-seq
MIRT2345492	hsa-miR-3942-3p	CLIP-seq
MIRT2345493	hsa-miR-3978	CLIP-seq
MIRT2345494	hsa-miR-4264	CLIP-seq
MIRT2345495	hsa-miR-4328	CLIP-seq
MIRT2345496	hsa-miR-4453	CLIP-seq
MIRT2345497	hsa-miR-4538	CLIP-seq
MIRT2345498	hsa-miR-4701-5p	CLIP-seq
MIRT2345499	hsa-miR-4797-3p	CLIP-seq
MIRT2345500	hsa-miR-512-3p	CLIP-seq
MIRT2345501	hsa-miR-588	CLIP-seq
MIRT2345502	hsa-miR-603	CLIP-seq
MIRT2345503	hsa-miR-708	CLIP-seq
MIRT2345504	hsa-miR-759	CLIP-seq
MIRT2440893	hsa-miR-1184	CLIP-seq
MIRT2440894	hsa-miR-1205	CLIP-seq
MIRT1411097	hsa-miR-1253	CLIP-seq
MIRT2440895	hsa-miR-1273f	CLIP-seq
MIRT2440896	hsa-miR-1273g	CLIP-seq
MIRT2440897	hsa-miR-1297	CLIP-seq
MIRT2440898	hsa-miR-1301	CLIP-seq
MIRT1411098	hsa-miR-1321	CLIP-seq
MIRT2440899	hsa-miR-140-3p	CLIP-seq
MIRT2440900	hsa-miR-1827	CLIP-seq
MIRT2440901	hsa-miR-22	CLIP-seq
MIRT2440902	hsa-miR-26a	CLIP-seq
MIRT2440903	hsa-miR-26b	CLIP-seq
MIRT2440904	hsa-miR-3158-5p	CLIP-seq
MIRT2440905	hsa-miR-3612	CLIP-seq
MIRT2440906	hsa-miR-3664-5p	CLIP-seq
MIRT2440907	hsa-miR-3690	CLIP-seq
MIRT2345491	hsa-miR-3922-5p	CLIP-seq
MIRT2440908	hsa-miR-4254	CLIP-seq
MIRT1411099	hsa-miR-4419a	CLIP-seq
MIRT2440909	hsa-miR-4443	CLIP-seq
MIRT2440910	hsa-miR-4465	CLIP-seq
MIRT1411100	hsa-miR-4510	CLIP-seq
MIRT2440911	hsa-miR-4534	CLIP-seq
MIRT2440912	hsa-miR-4660	CLIP-seq
MIRT2440913	hsa-miR-4714-5p	CLIP-seq
MIRT1411101	hsa-miR-4728-5p	CLIP-seq
MIRT1411102	hsa-miR-4739	CLIP-seq
MIRT1411103	hsa-miR-4756-5p	CLIP-seq
MIRT2440914	hsa-miR-4793-5p	CLIP-seq
MIRT2440915	hsa-miR-498	CLIP-seq
MIRT2440916	hsa-miR-5047	CLIP-seq
MIRT2440917	hsa-miR-513a-3p	CLIP-seq
MIRT2440918	hsa-miR-515-5p	CLIP-seq
MIRT2440919	hsa-miR-650	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Activation	18694960
IRF1	Unknown	9632673
IRF2	Activation	15778351
NFKB1	Unknown	18694960
RELA	Unknown	18694960
STAT1	Unknown	15778351;9632673

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0005515	Function	Protein binding	IPI	12213826, 15793001, 16828748, 17055437, 18802093, 19165146, 19201886, 19297616, 22810586, 26789246, 28514442, 30833792, 32296183
GO:0005524	Function	ATP binding	IDA	7673167, 11133832
GO:0005524	Function	ATP binding	IMP	15793001
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006952	Process	Defense response	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015433	Function	ABC-type peptide antigen transporter activity	IBA	21873635
GO:0015433	Function	ABC-type peptide antigen transporter activity	IDA	25377891
GO:0015433	Function	ABC-type peptide antigen transporter activity	IMP	25656091
GO:0015440	Function	ABC-type peptide transporter activity	IBA	21873635
GO:0015833	Process	Peptide transport	IBA	21873635
GO:0015833	Process	Peptide transport	IMP	11133832, 17418234
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	8955196
GO:0016032	Process	Viral process	IEA
GO:0016887	Function	ATPase activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IBA	21873635
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP	11133832
GO:0023029	Function	MHC class Ib protein binding	IPI	10605026
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	7673167, 11133832, 15577206, 22638925
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034451	Component	Centriolar satellite	IDA
GO:0042288	Function	MHC class I protein binding	IBA	21873635
GO:0042605	Function	Peptide antigen binding	IDA	7500034
GO:0042605	Function	Peptide antigen binding	NAS	11133832
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042824	Component	MHC class I peptide loading complex	IBA	21873635
GO:0042824	Component	MHC class I peptide loading complex	IDA	17947644
GO:0042825	Component	TAP complex	IDA	11133832, 15518576, 17947644
GO:0043531	Function	ADP binding	IDA	11532960
GO:0046967	Process	Cytosol to endoplasmic reticulum transport	IMP	7538543
GO:0046978	Function	TAP1 binding	IBA	21873635
GO:0046978	Function	TAP1 binding	ISS
GO:0046979	Function	TAP2 binding	IPI	1538751, 11133832, 15518576
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0098656	Process	Anion transmembrane transport	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IGI	7673167
GO:1904680	Function	Peptide transmembrane transporter activity	IMP	17418234
GO:1990668	Process	Vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS

Other IDs

• MIM: 170260
• HGNC: 43
• e!Ensembl: ENSG00000168394

Protein

• UniProt ID: Q03518
• Protein name: Antigen peptide transporter 1 (APT1) (EC 7.4.2.14) (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 interest
• Protein function: ABC transporter associated with antigen processing. In complex with TAP2 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25377891, PubMed:
• PDB: 1JJ7, 5U1D, 8T46, 8T4E, 8T4F, 8T4G, 8T4H, 8T4I, 8T4J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	247 → 518	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	581 → 731	ABC transporter	Domain

• Sequence:

  MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVP
  MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAV
  GLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWG
  APGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVPGGQGGSGNPVRRLLGCL
  GSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
  LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLS
  ENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESL
  AKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGM
  LLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
  YLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPN
  GSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIA
  YGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRK
  PCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
  REGGTHQQLMEKKGCYWAMVQAPADAPE

• Sequence length: 808