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  2. TAPBPL - TAP binding protein like Gene

TAPBPL - TAP binding protein like Gene

Homo sapiens

Also known as TAPBPR; TAPBP-R

Gene ID: 55080 | Gene type: protein coding

About TAPBPL

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,451,649-6,472,006 (from NCBI)

This gene has 8 transcripts (splice variants), 182 orthologues and 2 paralogues. Ubiquitous expression in duodenum (RPKM 8.1), small intestine (RPKM 7.3) and 25 other tissues.

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 reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]

TAPBPL Products(2)

mRNA Protein Name
NM_001351355.2 NP_001338284.1 tapasin-related protein isoform 2
NM_018009.5 NP_060479.3 tapasin-related protein isoform 1 precursor

TAPBPL Protein Structure

V-set

V-set: Immunoglobulin V-set domain (194 - 294)

C1-set

C1-set: Immunoglobulin C1-set domain (317 - 392)

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  • 468 a.a.
Protein Preferred Names Protein Names

tapasin-related protein

TAP binding protein related

Related Diseases

Diseases Alias
Spastic Ataxia 1, Autosomal Dominant

SPAX1

Ataxia, Spastic, 1, Autosomal Dominant

Autosomal Dominant Spastic Ataxia Type 1

Ataxia, Spastic, Type 1, Autosomal Dominant

Spastic Ataxia 1
Myasthenic Syndrome, Congenital, 25, Presynaptic

CMS25

Myasthenic Syndrome, Congenital, 25

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TAPBPL MGD MGI:2384853
Felis catus TAPBPL VGNC VGNC:65953
Rattus norvegicus TAPBPL RGD RGD:1307893
Canis familiaris TAPBPL VGNC VGNC:47107
Bos taurus TAPBPL VGNC VGNC:35600
Macaca mulatta TAPBPL NCBI
Others TAPBPL NCBI