TAPBPL (TAP binding protein like)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55080
Gene name TAP binding protein like
Gene symbol TAPBPL
Synonyms (NCBI Gene)
TAPBP-RTAPBPR
Chromosome 12
Chromosome location 12p13.31
Summary Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulu
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT2345530 hsa-miR-3198 CLIP-seq
MIRT2345531 hsa-miR-323b-5p CLIP-seq
MIRT2345532 hsa-miR-3940-5p CLIP-seq
MIRT2345533 hsa-miR-4309 CLIP-seq
MIRT2345534 hsa-miR-4507 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0002376 Process Immune system process IEA
GO:0002502 Process Peptide antigen assembly with MHC class I protein complex IBA
GO:0002502 Process Peptide antigen assembly with MHC class I protein complex IDA 26869717
GO:0002590 Process Negative regulation of antigen processing and presentation of peptide antigen via MHC class I IDA 23401559
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607081 30683 ENSG00000139192
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BX59
Protein name Tapasin-related protein (TAPASIN-R) (TAP-binding protein-like) (TAP-binding protein-related protein) (TAPBP-R) (Tapasin-like)
Protein function Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). {ECO:0
PDB 5WER , 7RNO , 9C96
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 195 → 301 Immunoglobulin V-set domain Domain
PF07654 C1-set 303 → 389 Immunoglobulin C1-set domain Domain
Sequence 
MGTQEGWCLLLCLALSGAAETKPHPAEGQWRAVDVVLDCFLAKDGAHRGALASSEDRARA
SLVLKQVPVLDDGSLEDFTDFQGGTLAQDDPPIIFEASVDLVQIPQAEALLHADCSGKEV
TCEISRYFLQMTETTVKTAAWFMANMQVSGGGPSISLVMKTPRVTKNEALWHPTLNLPLS
PQGTVRTAVEFQVMTQTQSLSFLLGSSASLDCGFSMAPGLDLISVEWRLQHKGRGQLVYS
WTAGQGQAVRKGATLEPAQLGMARDASLTLPGLTIQDEGTYICQITTSLYRAQQIIQLNI
QASPKVRLSLANEALLPTLICDIAGYYPLDVVVTWTREELGGSPAQVSGASFSSLRQSVA
GTYSISSSLTAEPGSAGATYTCQVTHISLEEPLGASTQVVPPERRTALGVIFASSLFLLA
LMFLGLQRRQAPTGLGLLQAERWETTSCADTQSSHLHEDRTARVSQPS
Sequence length 468
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Marfanoid habitus and intellectual disability Uncertain significance rs1592129355 RCV000850430
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 18340469
Triple Negative Breast Neoplasms Associate 36358906