TAP1 - transporter 1, ATP binding cassette subfamily B member Gene

Also Known as APT1; PSF1; ABC17; ABCB2; PSF-1; RING4; TAP1N; D6S114E; TAP1*0102N

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6890

About TAP1

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,845,209-32,853,704 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 217 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 57.6), appendix (RPKM 54.1) and 24 other tissues.

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]

TAP1 Products (2)

mRNA Protein Name
NM_000593.6 NP_000584.3 antigen peptide transporter 1 isoform 1
NM_001292022.2 NP_001278951.1 antigen peptide transporter 1 isoform 2
Molecular Function GO Annotation Evidence Verweise Source
enables ABC-type peptide antigen transporter activity IDA
IDA: Inferred from direct assay
11133832 GOA
enables ABC-type peptide antigen transporter activity IMP
IMP: Inferred from mutant phenotype
25656091 GOA
enables ADP binding IDA
IDA: Inferred from direct assay
11532960 GOA
enables ATP binding IDA
IDA: Inferred from direct assay
7673167 GOA
enables ATP binding IMP
IMP: Inferred from mutant phenotype
15793001 GOA
enables MHC class Ib protein binding IPI
IPI: Inferred from physical interaction
10605026 GOA
enables TAP2 binding IPI
IPI: Inferred from physical interaction
1538751 GOA
enables peptide antigen binding IDA
IDA: Inferred from direct assay
7500034 GOA
contributes to peptide transmembrane transporter activity IGI
IGI: Inferred from genetic interaction
7673167 GOA
enables peptide transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
17418234 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12213826 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in antigen processing and presentation of endogenous peptide antigen via MHC class I IDA
IDA: Inferred from direct assay
11133832 GOA
involved in antigen processing and presentation of endogenous peptide antigen via MHC class I IMP
IMP: Inferred from mutant phenotype
11133832 GOA
involved in cytosol to endoplasmic reticulum transport IMP
IMP: Inferred from mutant phenotype
7538543 GOA
involved in peptide transport IMP
IMP: Inferred from mutant phenotype
11133832 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of MHC class I peptide loading complex IDA
IDA: Inferred from direct assay
17947644 GOA
part of TAP complex IDA
IDA: Inferred from direct assay
11133832 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
7673167 GOA
located in membrane IDA
IDA: Inferred from direct assay
8955196 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TAP1 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (249 - 518)

ABC_tran

ABC_tran: ABC transporter (581 - 731)

  • 0
  • 200
  • 400
  • 600
  • 808 a.a.
Protein Preferred Names Protein Names

antigen peptide transporter 1

  • ABC transporter, MHC 1

TAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TAP1 Q03518 CALR Homo sapiens P27797 17055437
Intra
TAP1 Q03518 LCE2C Homo sapiens Q5TA81 32296183
Intra
TAP1 Q03518 LCE2C Homo sapiens Q5TA81 32296183
Intra
TAP1 Q03518 LCE2C Homo sapiens Q5TA81 32296183
Intra
TAP1 Q03518 AQP6 Homo sapiens Q13520 32296183
Intra
TAP1 Q03518 AQP6 Homo sapiens Q13520 32296183
Intra
TAP1 Q03518 AQP6 Homo sapiens Q13520 32296183
Intra
TAP1 Q03518 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TAP1 Q03518 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TAP1 Q03518 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TAP1 Q03518 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
TAP1 Q03518 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
TAP1 Q03518 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
TAP1 Q03518 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TAP1 Q03518 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TAP1 Q03518 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TAP1 Q03518 ERVFRD-1 Homo sapiens P60508 32296183
Intra
TAP1 Q03518 ERVFRD-1 Homo sapiens P60508 32296183
Intra
TAP1 Q03518 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TAP1 Q03518 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TAP1 Q03518 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TAP1 Q03518 RNF19B Homo sapiens Q6ZMZ0 32296183
Intra
TAP1 Q03518 RNF19B Homo sapiens Q6ZMZ0 32296183
Intra
TAP1 Q03518 RNF19B Homo sapiens Q6ZMZ0 32296183
Intra
TAP1 Q03518 GEMIN4 Homo sapiens P57678 32296183
Intra
TAP1 Q03518 GEMIN4 Homo sapiens P57678 32296183
Intra
TAP1 Q03518 SLC10A1 Homo sapiens Q14973 32296183
Intra
TAP1 Q03518 SLC10A1 Homo sapiens Q14973 32296183
Intra
TAP1 Q03518 SLC10A1 Homo sapiens Q14973 32296183
Intra
TAP1 Q03518 P4HB Homo sapiens P07237 17055437
Intra
TAP1 Q03518 THOC5 Homo sapiens Q13769
Y2H
19165146
Intra
TAP1 Q03518 THOC5 Homo sapiens Q13769 19165146
Intra
TAP1 Q03518 TAP2 Homo sapiens Q03519 19201886
Intra
TAP1 Q03518 TAP2 Homo sapiens Q03519 19297616
Intra
TAP1 Q03518 TAP2 Homo sapiens Q03519 17055437
Intra
TAP1 Q03518 TAP2 Homo sapiens Q03519 18802093
Intra
TAP1 Q03518 TAP2 Homo sapiens Q03519 26789246
Intra
TAP1 Q03518 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
TAP1 Q03518 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
TAP1 Q03518 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
TAP1 Q03518 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TAP1 Q03518 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TAP1 Q03518 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TAP1 Q03518 TAPBP Homo sapiens O15533 18802093
Intra
TAP1 Q03518 TAPBP Homo sapiens O15533 19201886
Intra
TAP1 Q03518 TAPBP Homo sapiens O15533 17055437
Intra
TAP1 Q03518 PDIA3 Homo sapiens P30101 17055437
Intra
TAP1 Q03518 PDIA3 Homo sapiens P30101 30833792
Cross
TAP1 Q03518 gN Bovine herpesvirus 1.1 Q77CE4 18802093
Cross
TAP1 Q03518 gN Bovine herpesvirus 1.1 Q77CE4 18802093
Cross
TAP1 Q03518 bnl2a_ebvb9 Epstein-Barr virus P0C739 19201886
Cross
TAP1 Q03518 bnl2a_ebvb9 Epstein-Barr virus P0C739
IF
19201886
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Bare Lymphocyte Syndrome, Type I
  • Hla Class I Deficiency

  • Mhc Class I Deficiency

  • Bls, Type I

  • Bare Lymphocyte Syndrome Type I

  • Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

  • Blsi

  • Mhc Class 1 Deficiency

  • Major Histocompatibility Complex Class 1 Deficiency

  • Bare Lymphocyte Syndrome 1

  • BLS1

  • Bls I

  • Bls Type I

  • Bl-1

  • Bare Lymphocyte Syndrome Type 1

  • Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

  • Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

  • Bls - [Bare Lymphocyte Syndrome] Nos

Immunodeficiency By Defective Expression Of Mhc Class I
  • Bare Lymphocyte Syndrome Type 1

  • Mhc Class I Deficiency

Spondylitis
Herpes Simplex
  • Herpes Simplex Infections

  • Herpesvirus Hominis Disease

  • Herpes Simplex Disease

  • Herpesviral Infection Due To Herpes Simplex

  • Infections Due To Simplex Virus

  • Herpes Nos

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Diabetes Mellitus
  • Diabetes

Suppressor Of Tumorigenicity 3
  • Cervical Carcinoma

  • ST3

  • Tumor-Suppressor Gene, Hela Cell Type

  • Tshl

  • Cervical Carcinoma, Tumor-Suppressor Gene Involved In

  • Ccts

  • Cervix Carcinoma

Autoimmune Disease
  • Autoimmune Diseases

  • Autoimmune Hypersensitivity Disease

  • Hypersensitivity Reaction Type Ii Disease

  • Type Ii Hypersensitivity Reaction Disease

Cervical Cancer
  • Cervical Cancer, Somatic

  • Neoplasm Of Uterine Cervix

  • Cervix Cancer

  • Uterine Cervical Neoplasm

  • Cervical Neoplasm

  • Cervix Uteri Cancer

  • Tumor Of The Cervix Uteri

  • CERCA

  • Uterine Cervical Cancer

  • Neoplasms Cervical

  • Uterine Cervical Neoplasms

  • Cervical Cancers

  • Cancer, Cervical, Somatic

  • Malignant Tumor Of Cervix

  • Cervix Carcinoma

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus TAP1 VGNC VGNC:35598
Mus musculus TAP1 MGD MGI:98483
Rattus norvegicus TAP1 RGD RGD:3817
Canis familiaris TAP1 VGNC VGNC:47105
Others TAP1 NCBI