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

Homo sapiens

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

Gene ID: 6890 | Gene type: protein coding

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

TAP1 Protein Structure

ABC_membrane

ABC_tran

0
200
400
600
808 a.a.

Protein Preferred Names

Protein Names

antigen peptide transporter 1

ABC transporter, MHC 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P5865	Tap1a	Inhibitor	/	Unkown
HY-RS14201	TAP1 Human Pre-designed siRNA Set A		/	Unkown

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

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