TAP1 transporter 1, ATP binding cassette subfamily B member [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAP1provided by HGNC
Official Full Name: transporter 1, ATP binding cassette subfamily B memberprovided by HGNC
Primary source: HGNC:HGNC:43
See related: Ensembl:ENSG00000168394 MIM:170260; AllianceGenome:HGNC:43
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APT1; PSF1; ABC17; ABCB2; PSF-1; RING4; TAP1N; MHC1D1; D6S114E; TAP1*0102N
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 subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Expression: Ubiquitous expression in spleen (RPKM 57.6), appendix (RPKM 54.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32845209..32853704, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32666584..32675079, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32812986..32821481, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pan-cancer analysis: predictive role of TAP1 in cancer prognosis and response to immunotherapy.
Title: Pan-cancer analysis: predictive role of TAP1 in cancer prognosis and response to immunotherapy.
TAP1, a potential immune-related prognosis biomarker with functional significance in uveal melanoma.
Title: TAP1, a potential immune-related prognosis biomarker with functional significance in uveal melanoma.
Antigen Peptide Transporter 1 (TAP1) Promotes Resistance to MEK Inhibitors in Pancreatic Cancers.
Title: Antigen Peptide Transporter 1 (TAP1) Promotes Resistance to MEK Inhibitors in Pancreatic Cancers.
Association study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China.
Title: Association study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China.
The association of TAP polymorphisms with non-small-cell lung cancer in the Han Chinese population.
Title: The association of TAP polymorphisms with non-small-cell lung cancer in the Han Chinese population.
Spotlight on TAP and its vital role in antigen presentation and cross-presentation.
Title: Spotlight on TAP and its vital role in antigen presentation and cross-presentation.
Transporter associated with antigen processing 1 (TAP1) expression and prognostic analysis in breast, lung, liver, and ovarian cancer.
Title: Transporter associated with antigen processing 1 (TAP1) expression and prognostic analysis in breast, lung, liver, and ovarian cancer.
Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western Mexico: A pilot study.
Title: Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western Mexico: A pilot study.
Association of TAP1 1177A>G and 2090A>G gene polymorphisms with latent tuberculosis infections in sheltered populations, in the metropolitan area of Guadalajara, Mexico: a pilot study.
Title: Association of TAP1 1177A>G and 2090A>G gene polymorphisms with latent tuberculosis infections in sheltered populations, in the metropolitan area of Guadalajara, Mexico: a pilot study.
Polymorphisms in transporter associated with antigen presenting are associated with cervical intraepithelial neoplasia and cervical cancer in a Chinese Han population.
Title: Polymorphisms in transporter associated with antigen presenting are associated with cervical intraepithelial neoplasia and cervical cancer in a Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (152)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
MHC class I deficiency MedGen: C1858266 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including RING4, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70842 (e-PCR)
- UniSTS:4353

D11S2921 (e-PCR)
- UniSTS:152074

D6S2820 (e-PCR)
- UniSTS:464398

PMC156606P3 (e-PCR)
- UniSTS:271410

D6S2042 (e-PCR)
- UniSTS:21567

RH46725 (e-PCR)
- UniSTS:9288

L18426 (e-PCR)
- UniSTS:34648

GDB:362795 (e-PCR)
- UniSTS:156766

BARC0051 (e-PCR)
- UniSTS:255331

RH69680 (e-PCR)
- UniSTS:35689

GDB:365643 (e-PCR)
- UniSTS:156808

GDB:250900 (e-PCR)
- UniSTS:156302

PMC115886P1 (e-PCR)
- UniSTS:270304

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type peptide antigen transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type peptide antigen transporter activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to ABC-type peptide antigen transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables ABC-type peptide antigen transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	IEA Inferred from Electronic Annotation more info
enables MHC class Ib protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables TAP1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables TAP1 binding	ISS Inferred from Sequence or Structural Similarity more info
enables TAP2 binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables peptide antigen binding	NAS Non-traceable Author Statement more info	PubMed
enables peptide transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytosol to endoplasmic reticulum transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response	IEA Inferred from Electronic Annotation more info
involved_in peptide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of MHC class I peptide loading complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MHC class I peptide loading complex	IDA Inferred from Direct Assay more info	PubMed
part_of TAP complex	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: antigen peptide transporter 1

Names: 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 in antigen processing 1; really interesting new gene 4 protein; transporter 1 ATP-binding cassette sub-family B; transporter 1, ATP-binding cassette, sub-family B (MDR/TAP); transporter associated with antigen processing; transporter, ATP-binding cassette, major histocompatibility complex, 1

NP_000584.3

EC 7.4.2.14

NP_001278951.1

EC 7.4.2.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011759.1 RefSeqGene

Range

5268..13763

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_166

mRNA and Protein(s)

NM_000593.6 → NP_000584.3 antigen peptide transporter 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL669918, KU178346

Consensus CDS

CCDS4758.2

UniProtKB/Swiss-Prot

Q03518, Q16149, Q96CP4

UniProtKB/TrEMBL

Q6QWC0, X5CKB3

Related

ENSP00000346206.5, ENST00000354258.5

Conserved Domains (1) summary

TIGR00958
Location:18 → 740

3a01208; Conjugate Transporter-2 (CT2) Family protein
NM_001292022.2 → NP_001278951.1 antigen peptide transporter 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK302340, BC014081, DC354917

UniProtKB/TrEMBL

B7Z7P4

Related

ENST00000645078.1

Conserved Domains (3) summary

cd03248
Location:291 → 519

ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C

COG1132
Location:1 → 541

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

pfam00664
Location:1 → 257

ABC_membrane; ABC transporter transmembrane region