Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6890
Gene name	Transporter 1, ATP binding cassette subfamily B member
Gene symbol	TAP1
Synonyms (NCBI Gene)	ABC17ABCB2APT1D6S114EMHC1D1PSF-1PSF1RING4TAP1*0102NTAP1N
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

Show/Hide all (4)

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

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006669	hsa-miR-346	ImmunocytochemistryIn situ hybridizationqRT-PCRWestern blot	22002058
MIRT735979	hsa-miR-200a-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	32923135
MIRT756196	hsa-miR-330-3p	Luciferase reporter assayqRT-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

Show/Hide all (6)

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

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	36104323
GO:0005515	Function	Protein binding	IPI	12213826, 15793001, 16828748, 17055437, 18802093, 19165146, 19201886, 19297616, 22810586, 26789246, 28514442, 30833792, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	7673167, 11133832
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	15793001
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	7673167, 11133832, 15577206, 22638925
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
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
GO:0015433	Function	ABC-type peptide antigen transporter activity	IDA	11133832, 25377891
GO:0015433	Function	ABC-type peptide antigen transporter activity	IGI	7673167
GO:0015433	Function	ABC-type peptide antigen transporter activity	IMP	17418234, 25656091
GO:0015440	Function	ABC-type peptide transporter activity	IEA
GO:0015833	Process	Peptide transport	IEA
GO:0015833	Process	Peptide transport	IMP	11133832, 17418234
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	8955196
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IBA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	8496691, 11133832
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	11133832
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP	11133832
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	NAS	12748171
GO:0023029	Function	MHC class Ib protein binding	IPI	10605026
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031090	Component	Organelle membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034451	Component	Centriolar satellite	IDA
GO:0042287	Function	MHC protein binding	IEA
GO:0042288	Function	MHC class I protein binding	IEA
GO:0042605	Function	Peptide antigen binding	IDA	7500034
GO:0042605	Function	Peptide antigen binding	NAS	11133832
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042824	Component	MHC class I peptide loading complex	IBA
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:0046872	Function	Metal ion binding	IEA
GO:0046967	Process	Cytosol to endoplasmic reticulum transport	IMP	7538543
GO:0046978	Function	TAP1 binding	IBA
GO:0046978	Function	TAP1 binding	ISS
GO:0046979	Function	TAP2 binding	IPI	1538751, 11133832, 15518576
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IMP	17418234

MIM	HGNC	e!Ensembl
170260	43	ENSG00000168394

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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in professional APCs monocytes and dendritic cells as well as in lymphocyte subsets T cells, B cells and NK cells. {ECO:0000269|PubMed:25656091, ECO:0000269|PubMed:9310490}.

Sequence

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

Sequence length

808

Interactions

View interactions

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

442

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glioma susceptibility 1	Pathogenic	rs1336232266	RCV005927011
MHC class I deficiency	Pathogenic; Likely pathogenic	rs1354641607, rs770072323, rs1336232266, rs2483190241, rs2483185391, rs2483168330, rs2483162654, rs1770853358, rs2483139752, rs2483177125, rs759163719, rs2483142817, rs1331472742, rs2483139594, rs2483121020 View all (4 more)	RCV001387585 RCV001942158 RCV003112278 RCV002928031 RCV003016342 RCV003314306 RCV003508072 RCV000014735 RCV003506822 RCV003619925 RCV003619889 RCV003620131 RCV003620071 RCV003621268 RCV004556115 RCV000795496 RCV001041667 RCV001206562 RCV001206266
MHC class I deficiency 1	Pathogenic	rs143800384	RCV005630333

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs55967815, rs56366814	RCV005914160 RCV005900221
Cervical cancer	Benign; Likely benign	rs55967815, rs56366814	RCV005914163 RCV005900224
Cholangiocarcinoma	Benign; Likely benign	rs55967815, rs1135216	RCV005914170 RCV005887520
Clear cell carcinoma of kidney	Likely benign	rs56366814	RCV005900225
Colon adenocarcinoma	Likely benign	rs758374418	RCV005909112
Familial cancer of breast	Benign; Likely benign	rs1135216, rs56366814	RCV005887516 RCV005900220
Gastric cancer	Benign; Likely benign	rs55967815, rs56366814	RCV005914166 RCV005900228
Hepatocellular carcinoma	Benign	rs55967815	RCV005914161
Lung cancer	Likely benign	rs371544893, rs56366814	RCV005926112 RCV005900231
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs1135216	RCV005887517
Malignant tumor of esophagus	Benign; Likely benign	rs55967815, rs56366814	RCV005914162 RCV005900222
Melanoma	Likely benign	rs56366814	RCV005900230
Nonpapillary renal cell carcinoma	Likely benign	rs56366814	RCV005900223
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs55967815, rs144951468, rs56366814, rs746757726	RCV005914167 RCV005900219 RCV005900229 RCV005909019
PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	Benign; Likely benign	rs1057141, rs1135216	RCV000014732 RCV000014733
Sarcoma	Benign; Likely benign	rs55967815, rs56366814	RCV005914165 RCV005900227
TAP1 deficiency, somatic	Likely benign	rs121917702	RCV000014734
TAP1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs757944776, rs372643992, rs746615939, rs149701253, rs2228106, rs2228109, rs144037908, rs147255912, rs55767910	RCV003948444 RCV003893291 RCV003951149 RCV003981008 RCV003928092 RCV003918038 RCV003980246 RCV003943242 RCV003955938
Thymoma	Benign; Likely benign	rs55967815, rs1135216	RCV005914169 RCV005887519
Uterine carcinosarcoma	Benign; Likely benign	rs55967815, rs1135216	RCV005914168 RCV005887518
Uterine corpus endometrial carcinoma	Benign	rs55967815	RCV005914171
Uveal melanoma	Benign; Likely benign	rs55967815, rs144951468, rs56366814	RCV005914164 RCV005900218 RCV005900226

Show/Hide Text Mining Associations (97)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia Areata	Associate	26782532
Aneuploidy	Associate	36619767
Asthma	Associate	12640628, 32867763
Autoimmune Diseases	Associate	24175803, 28700671
Bare Lymphocyte Syndrome Type I	Associate	10074495, 18668571
Basal Ganglia Diseases	Associate	8611711
Biliary Atresia	Associate	33128234
Breast Neoplasms	Stimulate	11513878
Breast Neoplasms	Associate	29091951, 31883395
Breast Neoplasms	Inhibit	34313250
Calcinosis Cutis	Inhibit	10079252
Cancer Pain	Associate	33507546
Carcinogenesis	Associate	24803408, 26205887
Carcinoma	Inhibit	15205239
Carcinoma Hepatocellular	Associate	12918137, 32108992
Carcinoma Pancreatic Ductal	Associate	35806187
Carcinoma Squamous Cell	Associate	23024775
Celiac Disease	Associate	1570316, 28934294
Cognitive Dysfunction	Associate	17903520
Colonic Neoplasms	Associate	35593226
Colorectal Neoplasms	Associate	24803408
Common Variable Immunodeficiency	Associate	32038658
Communicable Diseases	Associate	33507546
Diabetes Mellitus	Associate	36769056
Diabetes Mellitus Type 1	Associate	1570316, 8248212
Drug Hypersensitivity Syndrome	Associate	37306379
Epilepsy Tonic Clonic	Associate	1570316
Esophageal Neoplasms	Associate	22320985, 26205887
Esophageal Squamous Cell Carcinoma	Associate	22631645, 29073155
Glioblastoma	Inhibit	23526983
Glioblastoma	Associate	26313662
Glioblastoma	Stimulate	36759763
Graft vs Host Disease	Associate	30280423
Head and Neck Neoplasms	Associate	21207025, 22507853
Heart Failure	Associate	36204659
Hematologic Neoplasms	Associate	24175803
Hereditary Breast and Ovarian Cancer Syndrome	Associate	34047812
Hereditary leiomyomatosis and renal cell cancer	Associate	9680372, 9746788
HIV Infections	Associate	31732831
Hodgkin Disease	Associate	11781255
Hypoxia	Inhibit	29155844
Ichthyosis Vulgaris	Associate	25548428
Infections	Associate	15207616
Inflammatory Bowel Diseases	Associate	36029471
Influenza Human	Associate	33138079
Interferon gamma receptor 1 deficiency	Associate	23683877
Laryngeal papillomatosis	Associate	10618282
Leukemia	Associate	20820776
Lichen Planus	Associate	37317627
Lichen Planus Oral	Associate	37317627
Lung Diseases	Associate	10074495
Lung Neoplasms	Associate	40091029, 8546899
Lupus Erythematosus Systemic	Associate	30280423
Lymphatic Metastasis	Associate	8198988
Mastitis	Associate	35331909
Medulloblastoma	Associate	18473730
Melanoma	Associate	10079252, 12582163, 32923135, 8833913, 9632673
Melanoma	Inhibit	18385764
Multiple Myeloma	Associate	24175803, 9266943
Neoplasm Metastasis	Stimulate	15205239, 36774490
Neoplasm Metastasis	Associate	27497761, 8198988
Neoplasms	Inhibit	15205239, 16855371
Neoplasms	Associate	15265880, 18519766, 18694960, 24154688, 26205887, 29091951, 32552875, 32867395, 32923135, 33507546, 34047812, 34410967, 35806187, 36521927, 36759763, 36774490, 8198988, 8270878, 8833913 View all (4 more)
Nerve Sheath Neoplasms	Associate	16406348
Neuroblastoma	Associate	36521927
Neurodegenerative Diseases	Associate	27098790
Nevus	Inhibit	10079252
Osteosarcoma	Associate	26300407
Ovarian Neoplasms	Associate	27206315
Pancreatic Neoplasms	Associate	35806187
Papilloma	Associate	10618282
Papillomavirus Infections	Associate	26205887
Primary Immunodeficiency Diseases	Stimulate	36774490
Prodromal Symptoms	Inhibit	29091951
Prostatic Neoplasms	Inhibit	19820934
Pyruvate Carboxylase Deficiency Disease	Associate	27497761
Recurrent respiratory papillomatosis	Associate	10618282, 33507546
Rhinitis Allergic	Associate	17982230
Sarcoma Kaposi	Associate	25008864
Severe Combined Immunodeficiency	Associate	10074494
Sjogren's Syndrome	Associate	27332624
Skin Diseases	Associate	10074495
Small Cell Lung Carcinoma	Associate	29020964
Spondylitis Ankylosing	Associate	1570316
Squamous Cell Carcinoma of Head and Neck	Associate	21207025, 32867395
Stomach Neoplasms	Associate	11513878, 34410967, 34773716
Tuberculosis	Associate	37340462
Tuberculosis Multidrug Resistant	Associate	34047812, 37340462
Tuberculosis Pulmonary	Associate	26996113, 33736739
Tuberculosis Spinal	Associate	37340462
Urinary Bladder Neoplasms	Associate	34112144, 34329197
Uterine Cervical Dysplasia	Associate	19188174, 23024775
Uterine Cervical Neoplasms	Associate	11673561, 17622526, 19188174, 19263211, 23024775, 7640226, 8198988, 8270878
Uterine Cervicitis	Associate	8198988
Uveal melanoma	Associate	15205239, 36774490
Virus Diseases	Associate	33507546
Vitiligo	Associate	25548428, 28129744

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