TESPA1 (thymocyte expressed, positive selection associated 1)

Gene

• Entrez ID: 9840
• Gene name: Thymocyte expressed, positive selection associated 1
• Gene symbol: TESPA1
• Synonyms (NCBI Gene): HSPC257, ITPRID3, KIAA0748
• Chromosome: 12
• Chromosome location: 12q13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017883	hsa-miR-335-5p	Microarray	18185580
MIRT642980	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT642979	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT642978	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT642977	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT642976	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT642975	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT642974	hsa-miR-8063	HITS-CLIP	23824327
MIRT642973	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT642972	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT642971	hsa-miR-6071	HITS-CLIP	23824327
MIRT642980	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT642979	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT642978	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT642977	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT642976	hsa-miR-2681-3p	HITS-CLIP	23824327
MIRT642975	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT642974	hsa-miR-8063	HITS-CLIP	23824327
MIRT642973	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT642972	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT642971	hsa-miR-6071	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008180	Component	COP9 signalosome	IDA	22561606
GO:0008180	Component	COP9 signalosome	IEA
GO:0010387	Process	COP9 signalosome assembly	IEA
GO:0010387	Process	COP9 signalosome assembly	ISS
GO:0016020	Component	Membrane	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0036398	Component	TCR signalosome	IEA
GO:0036399	Process	TCR signalosome assembly	IEA
GO:0043274	Function	Phospholipase binding	IEA
GO:0050856	Process	Regulation of T cell receptor signaling pathway	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IBA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	ISS

Other IDs

• MIM: 615664
• HGNC: 29109
• e!Ensembl: ENSG00000135426

Protein

• UniProt ID: A2RU30
• Protein name: Protein TESPA1 (Thymocyte-expressed positive selection-associated protein 1)
• Protein function: Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pa
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14722	KRAP_IP3R_bind	128 → 291	Ki-ras-induced actin-interacting protein-IP3R-interacting domain	Family

• Sequence:

  MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINK
  IEDWLQDCGYSEEGFSEEAGQFIYNGFCSHGTSFEDDLTLGAEATLLAANGKLFSRSFLE
  TARPCQLLDLGCSLASSSMTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSR
  IPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSY
  VSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRP
  PPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPC
  VFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATN
  TETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQ
  PQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKDS

• Sequence length: 521

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24893580		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36029471	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25736038		★☆☆☆☆ Found in Text Mining only