Information on TAP1
Alt. symbols: ABCB2 | PSF1 | RING4 | D6S114E
Approved name: transporter 1, ATP binding cassette subfamily B member
Alt. names: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Location: 6p21.32: 32845209 - 32853816 (-)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.086500 | pLI: 0.28665016 | LOEUF: 0.656
Gene Ontology (GO)
- Molecular function: TAP1 binding [GO:0046978]; MHC class I protein binding [GO:0042288]; ABC-type peptide antigen transporter activity [GO:0015433]
- Cell component: MHC class I peptide loading complex [GO:0042824]
- Biological process: peptide transport [GO:0015833]; transmembrane transport [GO:0055085]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]
Normal function
Dysfunction and disease
Bare lymphocyte syndrome, type I [MIM:604571] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BLS1A |
Bare lymphocyte syndrome type 1A | AR |
604571 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TAP1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000354258.5 | 1 | CCDS4758 | Select | protein_coding | 11 | Yes | 2959 | NM_000593,NM_001292022 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TAP1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|