Tapbp Gene Detail

Summary

• Symbol
  Tapbp
• Name
  TAP binding protein
• Synonyms
  D17Wsu91e, tapasin, TPN

• Feature Type
  protein coding gene
• IDs
  MGI:1201689
  NCBI Gene: 21356
• Alliance
  gene page
• Transcription Start Sites
  29 TSS
• Candidate for QTL
  1 QTL

Location &
Maps

• Sequence Map
  Chr17:34138452-34148264 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 17, 17.98 cM
• Mapping Data
  8 experiments

Strain
Comparison

• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1201689	protein coding gene	Chr17:34134873-34148266 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023542	protein coding gene	Chr17:33865165-33878384 (+)
A/J	MGP_AJ_G0023503	protein coding gene	Chr17:32698420-32711814 (+)
AKR/J	MGP_AKRJ_G0023469	protein coding gene	Chr17:33094077-33107451 (+)
BALB/cJ	MGP_BALBcJ_G0023506	protein coding gene	Chr17:32871375-32884905 (+)
C3H/HeJ	MGP_C3HHeJ_G0023268	protein coding gene	Chr17:33449435-33462825 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023949	protein coding gene	Chr17:35122040-35131950 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021422	protein coding gene	Chr17:30200612-30214552 (+)
CAST/EiJ	MGP_CASTEiJ_G0022770	protein coding gene	Chr17:33520584-33536743 (+)
CBA/J	MGP_CBAJ_G0023245	protein coding gene	Chr17:36547516-36560830 (+)
DBA/2J	MGP_DBA2J_G0023373	protein coding gene	Chr17:32075997-32089278 (+)
FVB/NJ	MGP_FVBNJ_G0023342	protein coding gene	Chr17:31935259-31948634 (+)
LP/J	MGP_LPJ_G0023451	protein coding gene	Chr17:34139890-34154067 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023364	protein coding gene	Chr17:35599908-35613318 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023989	protein coding gene	Chr17:33420155-33435621 (+)
PWK/PhJ	MGP_PWKPhJ_G0022518	protein coding gene	Chr17:30989211-31003458 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022334	protein coding gene	Chr17:31382326-31397623 (+)
WSB/EiJ	MGP_WSBEiJ_G0022830	protein coding gene	Chr17:33460197-33473486 (+)

Homology

• Human Ortholog
  TAPBP, TAP binding protein

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  TAPBP, TAP binding protein
  
• Synonyms
  MHC1D3, NGS17, TAPA, TPN, TPSN
• Links
  HGNC:11566

  NCBI Gene ID: 6892

  neXtProt AC: NX_O15533

  UniProt: O15533

  
  
• Chr Location
  6p21.32; chr6:33299694-33314284 (-)  GRCh38

---

• MGI Vertebrate Homology
  Tapbp stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: TAPBP
• Gene Tree
  Tapbp
  

Human Diseases

• Diseases
  1 with human TAPBP associations

				Human Disease	Mouse Models
				severe combined immunodeficiency IDs severe combined immunodeficiency       DOID:627 MESH:D016511 NCI:C3472 UMLS_CUI:C0085110

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  10 phenotypes from 2 alleles in 3 genetic backgrounds
  5 phenotypes from multigenic genotypes
  17 phenotype references
  

• All Mutations and Alleles
  5
• Endonuclease-mediated
  2
• Gene trapped
  1
• Targeted
  2
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  24 strains or lines available

Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  28
• GO References
  10

Expression

• Assay Results
  780
• Tissues
  28
• cDNA Data
  20
• Literature Summary
  6

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase tapbp

Sequences &
Gene Models

• All Sequences
  84
• RefSeq
  4
• UniProt
  19
• CCDS
  CCDS37572.1, CCDS89072.1

• Ensembl
  ENSMUSG00000024308 (Evidence)
• NCBI Gene
  21356

Representative Sequences			Length	Strain/Species
genomic	21356	NCBI Gene Model | MGI Sequence Detail	9813	C57BL/6J
transcript	NM_001025313	RefSeq | MGI Sequence Detail	2750	ZRU/MplStud
polypeptide	Q9R233	UniProt | EBI | MGI Sequence Detail	465	Not Applicable

Protein
Information

• UniProt
  19 Sequences
• Protein Ontology
  PR:000016053 tapasin
  (term hierarchy)
• PDB
  6GB7
• InterPro Domains
  IPR050380 Immune Recognition and Response Modulators
  IPR003597 Immunoglobulin C1-set
  IPR007110 Immunoglobulin-like domain
  IPR036179 Immunoglobulin-like domain superfamily
  IPR013783 Immunoglobulin-like fold
  IPR003006 Immunoglobulin/major histocompatibility complex, conserved site
  IPR008056 Tapasin
• GlyGen
  Q9R233 2 sites, 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 29

  Genomic 4

  cDNA 23

  Primer pair 2

  
  

  Microarray probesets 5

Other
Accession IDs

MGD-MRK-33974, MGI:106282

References

• Summaries
  All 67

  Developmental Gene Expression 6

  Gene Ontology 10

  Phenotypes 17
• Earliest
  J:46195 Herberg JA, et al., Genomic analysis of the Tapasin gene, located close to the TAP loci in the MHC. Eur J Immunol. 1998 Feb;28(2):459-67
• Latest
  J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Tapbp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143822	Chr17:34138030-34138037 (+)	-418 bp
Tssr143823	Chr17:34138444-34138451 (+)	-4 bp
Tssr143824	Chr17:34138460-34138472 (+)	14 bp
Tssr143825	Chr17:34138537-34138553 (+)	93 bp
Tssr143826	Chr17:34138571-34138591 (+)	129 bp
Tssr143827	Chr17:34138593-34138602 (+)	146 bp
Tssr143828	Chr17:34138619-34138650 (+)	183 bp
Tssr143829	Chr17:34138653-34138664 (+)	207 bp
Tssr143830	Chr17:34138699-34138710 (+)	253 bp
Tssr143831	Chr17:34138801-34138807 (+)	352 bp
Tssr143832	Chr17:34138836-34138851 (+)	392 bp
Tssr143833	Chr17:34139216-34139311 (+)	812 bp
Tssr143834	Chr17:34139372-34139388 (+)	928 bp
Tssr143835	Chr17:34139464-34139488 (+)	1,024 bp
Tssr143836	Chr17:34139496-34139528 (+)	1,060 bp
Tssr143837	Chr17:34141778-34141826 (+)	3,350 bp
Tssr143838	Chr17:34144374-34144419 (+)	5,945 bp
Tssr143839	Chr17:34144443-34144465 (+)	6,002 bp
Tssr143840	Chr17:34144669-34144684 (+)	6,225 bp
Tssr143841	Chr17:34144706-34144738 (+)	6,270 bp
Tssr143842	Chr17:34144966-34145003 (+)	6,533 bp
Tssr143843	Chr17:34145139-34145165 (+)	6,700 bp
Tssr143844	Chr17:34145239-34145253 (+)	6,794 bp
Tssr143845	Chr17:34145286-34145300 (+)	6,841 bp
Tssr143846	Chr17:34145385-34145388 (+)	6,935 bp
Tssr143847	Chr17:34145391-34145403 (+)	6,945 bp
Tssr143848	Chr17:34145423-34145441 (+)	6,980 bp
Tssr143849	Chr17:34145593-34145611 (+)	7,150 bp
Tssr143850	Chr17:34145631-34145650 (+)	7,189 bp

Tapbp is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Pas2	Chr17, 17.98 cM	Chr17:35422141-35424327	J:78525	Microarray gene expression analysis was used to identify candidate genes for tumor resistant and tumor susceptibility QTLs Par8,2,3,4 and and Pas1-4, respectively. Transcripts found within the flanking markers of each QTL were identified and matched to transcripts from Affymetrix probe sets. RNA from A/J, BALB/cJ, C57BL/6J, and SM/J were used for analysis. Pas1 is located between 48.2 cM and 75 cM on mouse Chromosome 6 and was identified in a cross between A/J and C57BL/6J. Candidate oncogenic genes identified by microarray analysis are hes related protein (**Note- this gene is not found in MGD), Ppih (cyclophilin H **Note-this gene is positioned on mouse Chromosome 4 in MGD), Ptpro, Mglap, Recql, and Bcat1 (ECA39). Other candidate genes identified via differential expression are Ccnd2 (cyclin D2) and high mobility group protein 2A,4 (**Note-this gene is not found in MGD). K-ras, a positional candidate gene, did not show significantly different expression between A/J and C57BL/6J. Pas2 is located between 17 cMand 23.2 cM on mouse Chromosome 17 and was identified in crosses involving A/J and C57BL/6J. Candidate oncogenic genes identified by microarray analysis are Notch4, Hnrpk (**Note-this gene is positioned on mouse Chromosome 13 in MGD), and Enpp4. Other candidate genes identified via differential expression are Cdc5l, Tapbp (tapasin), H2-Ke2, Rbx1 (regulator of cullins 1 **Note- this gene is found on mouse Chromosome 15 in MGD), Psors1c2, H2-Ke6, and H2-M9. Positional candidate genes Tnf (Tnfa) and Lta (Tnfb) did not show significantly different expression between A/J and C57BL/6J. Pas3 is located between 2 cM and 25 cM on mouse Chromosome 19 and was identified in a cross between A/J and C57BL/6J. Candidate oncogenic genes identified by microarray analysis are golgi specific Gbf1 (brefeldin A resistance factor 1) and Sema4g. Other candidate genes identified via differential expression are Pdcd4, Adrb1, and Cdc25l. Pas4 is located between 42 cM and 72 cM on mouse Chromosome 9 and was identified in a cross between A/J and C57BL/6J. Candidate oncogenic genes identified by microarray analysis are Nck1, Pthr1, and Topbp1. Candidate tumor suppressor genes for Pas4 are G protein alpha I 2 (**Note-this gene is not found in MGD), Cdk5 (**Note-this gene is positioned on mouse Chromosome 5 in MGD), Smarcd3 (**Note-this gene is positioned on mouse Chromosome 5 in MGD), and Nckipsd. Another candidate gene identified via differential expression is Stag1. Par1 is located between 37 cM and 59 cM on mouse Chromosome 11 and was identified in a cross between A/J and SM/J. Candidate oncogenic genes identified by microarray analysis are Alox12 (12-lipoxygenase), Zfp617 (zinc finger protein s11-6), Grn, and Rpl29 (**Note-this gene is positioned on mouse Chromosome 9 in MGD). A tumor suppressor candidate gene for Par1 is Spop. 02.05.2016 Curator Note: Because Par1 was originally mapped in J:32079 using an (A/J x M. spretus) x C57BL/6J interspecific backcross, which differs from the cross used here, we have equated this QTL with Par8 which was mapped using A/J and SM/J mice, see J:41849. Par2 is located between 32 cM and 57 cM on mouse Chromosome 18 and was identified in a cross between A/J and BALB/cJ. Candidate oncogenic genes identified by microarray analysis are Adrb2, Mbd2, Htr4, Hmgb1-rs12, and Iigp1. Dcc is an expected candidate gene of Par2 but its expression pattern (A/J=high expression) is not consistent with its effect on tumor resistance/susceptibility. Mc2r is another candidate gene identified via differential gene expression between A/J and SM/J. Par3 is located between 13 cM and 44 cM on mouse Chromosome 12 and was identified in a cross between A/J and SM/J. Only one candidate oncogenic gene was identified for Par3. This is placental growth factor, Pgf. Par4 is located between 10.6 cM and 42.5 cM on mouse Chromosome 4 and was identified in a cross between A/J and BALB/cJ. Candidate tumor suppressor genes identified via differential gene expression are Cdkn2a, Egfl5, Ambp (bikunin), Pole3, Tyrp1, Ifnab, and Igfbpl1.Candidate oncogenes are T complex protein 1 alpha (**Note-this gene is not found in MGD) and Stmn1. Another candidate gene identified via differential expression between A/J and SM/J is Ptprd.

*cM position of peak correlated region/marker