Gene

tapbp.1

ID
ZDB-GENE-010110-2
Name
TAP binding protein (tapasin), tandem duplicate 1
Symbol
tapbp.1 Nomenclature History
Previous Names
  • tapbp (1)
  • tpsn (1)
  • zgc:109814
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to be involved in antigen processing and presentation of endogenous peptide antigen via MHC class I. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in MHC class I deficiency and severe combined immunodeficiency. Is expressed in primordial germ cell. Orthologous to human TAPBP (TAP binding protein).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tapbp.1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
MHC class I deficiency Alliance Bare lymphocyte syndrome, type I 604571
Associated With tapbp.1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003599 Immunoglobulin subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013106 Immunoglobulin V-set domain
Family IPR008056 Tapasin
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin V-set domain Tapasin
UniProtKB:Q1LUU3 442
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations