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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs 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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glioma susceptibility 1	Pathogenic	rs1336232266	RCV005927011	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MHC class I deficiency 1	Pathogenic	rs143800384	RCV005630333	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (41)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARE LYMPHOCYTE SYNDROME, TYPE I	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIECTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRINSIC ALLERGIC ALVEOLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAP1 deficiency, somatic	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAP1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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