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

Gene ID: 6890, updated on 6-Sep-2021

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
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; 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
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Genomic context

See TAP1 in Genome Data Viewer
Location:
6p21.32
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32845209..32853704, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32812986..32821481, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transporter 2, ATP binding cassette subfamily B member Neighboring gene meiotic recombination hotspot TAP2 Neighboring gene proteasome 20S subunit beta 8 Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene proteasome 20S subunit beta 9 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bare lymphocyte syndrome type 1
MedGen: C1858266 OMIM: 604571 GeneReviews: Not available
Compare labs
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26666, FLJ41500

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
PubMed 
enables ABC-type peptide antigen transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ABC-type peptide antigen transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ABC-type peptide transporter activity IBA
Inferred from Biological aspect of Ancestor
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 ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 
contributes_to peptide transmembrane transporter activity IGI
Inferred from Genetic Interaction
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_011759.1 RefSeqGene

    Range
    5268..13763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_166

mRNA and Protein(s)

  1. NM_000593.6NP_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
    CCDS4758.1
    Related
    ENSP00000346206.5, ENST00000354258.5
    Conserved Domains (1) summary
    TIGR00958
    Location:18740
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  2. NM_001292022.2NP_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/Swiss-Prot
    Q03518
    UniProtKB/TrEMBL
    B7Z7P4
    Related
    ENST00000645078.1
    Conserved Domains (3) summary
    cd03248
    Location:291519
    ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C
    COG1132
    Location:1541
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:1257
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32845209..32853704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    4150074..4158569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4257408..4265903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    4088779..4097274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    4264562..4273057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    4144278..4152773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    4039497..4047992 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    4244461..4252956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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