TAP1
Antigen peptide transporter 1
Also known as: ABCB2, D6S114E, PSF1, RING4, TAP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q03518
- Gene
- TAP1
- Ensembl
- ENSG00000168394
- Chromosome
- 6
- Canonical length
- 748 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum,Centriolar satellite
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
748 residues, UniProt reviewed canonical sequence.
>Q03518|TAP1
1 MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
61 GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
121 APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
181 GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
241 LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
301 ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
361 AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSISGM
421 LLKVGILYIG GQLVTSGAVS SGNLVTFVLY QMQFTQAVEV LLSIYPRVQK AVGSSEKIFE
481 YLDRTPRCPP SGLLTPLHLE GLVQFQDVSF AYPNRPDVLV LQGLTFTLRP GEVTALVGPN
541 GSGKSTVAAL LQNLYQPTGG QLLLDGKPLP QYEHRYLHRQ VAAVGQEPQV FGRSLQENIA
601 YGLTQKPTME EITAAAVKSG AHSFISGLPQ GYDTEVDEAG SQLSGGQRQA VALARALIRK
661 PCVLILDDAT SALDANSQLQ VEQLLYESPE RYSRSVLLIT QHLSLVEQAD HILFLEGGAI
721 REGGTHQQLM EKKGCYWAMV QAPADAPELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 10
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 82 nTPM
Expression across tissuesHPA
Tissue
- spleen: 82 nTPM
- lung: 61 nTPM
- skin: 57 nTPM
- lymph node: 50 nTPM
- small intestine: 46 nTPM
- appendix: 38 nTPM
Single-cell type
- podocytes: 16 nCPM
- oligodendrocyte progenitor cells: 12 nCPM
- astrocytes: 11 nCPM
- papillary tip epithelial cells: 9.8 nCPM
- nk-cells: 8.4 nCPM
- bergmann glia: 8.3 nCPM
Immune cell
- neutrophil: 318 nTPM
- eosinophil: 308 nTPM
- total PBMC: 228 nTPM
- T-reg: 219 nTPM
- basophil: 213 nTPM
- gdT-cell: 155 nTPM
Brain region
- medulla oblongata: 24 nTPM
- pons: 17 nTPM
- thalamus: 15 nTPM
- spinal cord: 13 nTPM
- white matter: 10 nTPM
- amygdala: 8.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TAP1.
Disease | AllUniProt
Conditions TAP1 is implicated in, by any mechanism.
- MHC class I deficiency 1 (MHC1D1) MIM:604571
Disease | GeneticClinVar
29 pathogenic / likely-pathogenic of 518 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- MHC class I deficiency
- MHC class I deficiency 1
- Glioma susceptibility 1
Disease | ImmuneIEDB
Conditions an epitope on TAP1 was assayed in.
- type 1 diabetes mellitus T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.66
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.77
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- antigen processing and presentation of endogenous peptide antigen via MHC class I
- cytosol to endoplasmic reticulum transport
- defense response
- peptide transport
- protein transport
- transmembrane transport
Molecular functions
- ABC-type peptide antigen transporter activity
- ADP binding
- ATP binding
- ATP hydrolysis activity
- metal ion binding
- MHC class I protein binding
- MHC class Ib protein binding
- peptide antigen binding
- peptide transmembrane transporter activity
- protein homodimerization activity
- TAP1 binding
- TAP2 binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ABC transporter-like, ATP-binding domain
- AAA+ ATPase domain
- ABC transporter type 1, transmembrane domain
- ABC transporter Tap-like
- ABC transporter-like, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- ABC transporter type 1, transmembrane domain superfamily
- Type 1 protein exporter
- ABC transporter
- ABC transporter transmembrane region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TAP1 as an antibody target. Whether an autoantibody or antibody against TAP1 could matter depends on whether native TAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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