TAPBPL (TAP binding protein like)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55080
Gene name Gene Name - the full gene name approved by the HGNC.
TAP binding protein like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAPBPL
Synonyms (NCBI Gene) Gene synonyms aliases
TAPBP-R, TAPBPR
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
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
GO:0005515 Function Protein binding IPI 23401559, 26439010, 26869717, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 23401559
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607081 30683 ENSG00000139192
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Ataxia ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986
View all (52 more)
Myasthenic syndrome Myasthenic Syndromes, Congenital rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
Spastic paraplegia Spastic Paraplegia rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520
View all (368 more)
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 18340469
Triple Negative Breast Neoplasms Associate 36358906