TAPBP TAP binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAPBPprovided by HGNC
Official Full Name: TAP binding proteinprovided by HGNC
Primary source: HGNC:HGNC:11566
See related: Ensembl:ENSG00000231925 MIM:601962; AllianceGenome:HGNC:11566
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: TPN; TAPA; TPSN; NGS17; MHC1D3
Summary: This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 38.1), appendix (RPKM 25.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33299694..33314078, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33121056..33135440, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33267471..33281855, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing m[6]A modification.
Title: A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing m(6)A modification.
Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma.
Title: Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma.
The downregulation of Tapasin in dendritic cell regulates CD8[+] T cell autophagy to hamper hepatitis B viral clearance in the induced pluripotent stem cell-derived hepatocyte organoid.
Title: The downregulation of Tapasin in dendritic cell regulates CD8(+) T cell autophagy to hamper hepatitis B viral clearance in the induced pluripotent stem cell-derived hepatocyte organoid.
Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.
Title: Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.
The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing.
Title: The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing.
Exchange catalysis by tapasin exploits conserved and allele-specific features of MHC-I molecules.
Title: Exchange catalysis by tapasin exploits conserved and allele-specific features of MHC-I molecules.
HLA tapasin independence: broader peptide repertoire and HIV control.
Title: HLA tapasin independence: broader peptide repertoire and HIV control.
Atomistic structure and dynamics of the human MHC-I peptide-loading complex.
Title: Atomistic structure and dynamics of the human MHC-I peptide-loading complex.
The results demonstrated that the mRNA expression levels of tapasin were significantly downregulated in patients with chronic hepatitis B (CHB) compared with in healthy controls and patients with acute hepatitis B Furthermore, the apoptotic rate of CD8+ T cells was increased in patients with CHB compared with in the other two groups.
Title: Correlation between low tapasin expression and impaired CD8+ T‑cell function in patients with chronic hepatitis B.
The disruption of TAP1 and TAPBP generates pluripotent embryonic stem cells with reduced immunogenicity.
Title: Generating hESCs with reduced immunogenicity by disrupting TAP1 or TAPBP.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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

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
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with TAPBP; predicted interaction to be involved in antigenicity/immunity	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

RH37250 (e-PCR)
- UniSTS:66823

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D2S1254 (e-PCR)
- UniSTS:24950

D6S1534E (e-PCR)
- UniSTS:153979

RH93285 (e-PCR)
- UniSTS:84357

D11S3114 (e-PCR)
- UniSTS:152207

STS-W74659 (e-PCR)
- UniSTS:67479

D6S1891 (e-PCR)
- UniSTS:9656

L17971 (e-PCR)
- UniSTS:43966

RH98925 (e-PCR)
- UniSTS:84222

STS-H95651 (e-PCR)
- UniSTS:49663

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class I protein binding	TAS Traceable Author Statement more info	PubMed
enables MHC class I protein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables TAP complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables TAP complex binding	IDA Inferred from Direct Assay more info	PubMed
enables TAP1 binding	IDA Inferred from Direct Assay more info	PubMed
enables TAP1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables TAP1 binding	TAS Traceable Author Statement more info	PubMed
enables TAP2 binding	IDA Inferred from Direct Assay more info	PubMed
enables TAP2 binding	IPI Inferred from Physical Interaction more info	PubMed
enables TAP2 binding	TAS Traceable Author Statement more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide antigen binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in MHC class Ib protein complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA Inferred from Electronic Annotation more info
involved_in peptide antigen assembly with MHC class I protein complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide antigen assembly with MHC class I protein complex	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide antigen stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein complex stability	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
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 MHC class I peptide loading complex	NAS Non-traceable Author Statement more info	PubMed
part_of Tapasin-ERp57 complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in endoplasmic reticulum	IC Inferred by Curator more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in lumenal side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tapasin

Names: NGS-17; TAP binding protein (tapasin); TAP-associated protein

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_009876.1 RefSeqGene

Range

4826..19519

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_114

mRNA and Protein(s)

NM_001410875.1 → NP_001397804.1 tapasin isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL662820

Consensus CDS

CCDS93889.1

UniProtKB/TrEMBL

A0A8V8TQC5

Related

ENSP00000514506.1, ENST00000699657.1
NM_003190.5 → NP_003181.3 tapasin isoform 1 precursor

See identical proteins and their annotated locations for NP_003181.3

Status: REVIEWED

Description

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

Source sequence(s)

AB010639, AF029750, AL662820

Consensus CDS

CCDS34426.1

UniProtKB/Swiss-Prot

A2AB91, A2ABC0, B0V003, B0V0A6, B2ZUA4, E9PGM2, O15210, O15272, O15533, Q5STJ8, Q5STK6, Q5STQ5, Q5STQ6, Q66K65, Q96KK7, Q9HAN8, Q9UEE0, Q9UEE4, Q9UIZ6, Q9Y6K2

UniProtKB/TrEMBL

A0A024RCT1, A0A0G2JKZ1

Related

ENSP00000395701.2, ENST00000434618.7

Conserved Domains (1) summary

cl11960
Location:260 → 391

Ig; Immunoglobulin domain
NM_172208.3 → NP_757345.2 tapasin isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

AL662820, AU117273, AW028178, BC080574

Consensus CDS

CCDS34428.2

UniProtKB/TrEMBL

A0A0A0MSV9, A0A0G2JKZ1

Related

ENSP00000404833.2, ENST00000426633.6

Conserved Domains (1) summary

cl11960
Location:255 → 391

Ig; Immunoglobulin domain
NM_172209.3 → NP_757346.2 tapasin isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.

Source sequence(s)

AF029750, AL662820, AU117273, EU693375

Consensus CDS

CCDS34427.2

UniProtKB/TrEMBL

A0A0A0MT98, A0A0G2JKZ1

Related

ENSP00000419659.1, ENST00000489157.6

Conserved Domains (1) summary

cl11960
Location:168 → 304

Ig; Immunoglobulin domain