TAP1

Chr 6

transporter 1, ATP binding cassette subfamily B member

Also known as: ABC17, ABCB2, APT1, D6S114E, MHC1D1, PSF-1, PSF1, RING4

NCBI Gene: 6890ENSG00000168394UniProt: Q03518

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMHC class I deficiency 1

Clinical highlights

Gene-disease validity (ClinGen)
MHC class I deficiency · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
71
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.66
LOEUF
LOF
Mechanism· G2P
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GeneReview available — TAP1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.000
Z-score 3.16
OE 0.43 (0.28–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.77Z-score
OE missense 0.76 (0.69–0.83)
327 obs / 430.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.28–0.66)
0≤0.351.4
Missense OE?0.76 (0.69–0.83)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 15 / 35.2Missense obs/exp: 327 / 430.0Syn Z: 1.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TAP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients