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

Pathways

KEGG:

ABC transporters
Phagosome
Antigen processing and presentation
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Primary immunodeficiency

Reactome:

ER-Phagosome pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19217216

Unknown
Disease name	Disease term	dbSNP ID	References
Bare lymphocyte syndrome	Bare Lymphocyte Syndrome, Type I, Immunodeficiency by defective expression of MHC class I		10074494
Bronchiolitis	Bronchiolitis
Bronchitis	Recurrent bronchitis
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	23266558
Myocardial ischemia	Myocardial Ischemia		16214533
Nasal polyposis	Nasal Polyps
Oral ulcer	Oral Ulcer		30837455
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Prostatic neoplasms	Prostatic Neoplasms		29610475
Sinusitis	Chronic sinusitis