TESPA1 thymocyte expressed, positive selection associated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TESPA1provided by HGNC
Official Full Name: thymocyte expressed, positive selection associated 1provided by HGNC
Primary source: HGNC:HGNC:29109
See related: Ensembl:ENSG00000135426 MIM:615664; AllianceGenome:HGNC:29109
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSPC257; ITPRID3; KIAA0748
Summary: Predicted to enable phospholipase binding activity and signaling receptor binding activity. Predicted to be involved in COP9 signalosome assembly; positive regulation of T cell differentiation in thymus; and positive regulation of T cell receptor signaling pathway. Predicted to act upstream of or within TCR signalosome assembly. Located in cytosol. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lymph node (RPKM 4.0), brain (RPKM 4.0) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54948015..54985188, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54914643..54951806, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (55341799..55378546, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.
Title: Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.
Thymic-specific regulation of TCR signaling by Tespa1.
Title: Thymic-specific regulation of TCR signaling by Tespa1.
Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1
Title: Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.
Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China
Title: Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.
The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population.
Title: Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.
Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes.
Title: Tespa1 protein is phosphorylated in response to store-operated calcium entry.
Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.
Title: Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16263 (e-PCR)
- UniSTS:2922

RH92746 (e-PCR)
- UniSTS:89478

D12S1221E (e-PCR)
- UniSTS:151471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipase binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in COP9 signalosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in TCR signalosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
part_of TCR signalosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein TESPA1

Names: thymocyte-expressed positive selection-associated protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001098815.3 → NP_001092285.1 protein TESPA1 isoform 1

See identical proteins and their annotated locations for NP_001092285.1

Status: VALIDATED

Description

Transcript Variant: This variant (2), as well as variants 1 and 6, encodes the longest isoform (1).

Source sequence(s)

AC079842, BC132732

Consensus CDS

CCDS44913.1

UniProtKB/Swiss-Prot

A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

Related

ENSP00000312679.8, ENST00000316577.12

Conserved Domains (1) summary

pfam14722
Location:128 → 286

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001136030.3 → NP_001129502.1 protein TESPA1 isoform 1

See identical proteins and their annotated locations for NP_001129502.1

Status: VALIDATED

Description

Transcript Variant: This variant (1), as well as variants 2 and 6, encodes the longest isoform (1).

Source sequence(s)

AC079842, AK303223, AW967924

Consensus CDS

CCDS44913.1

UniProtKB/Swiss-Prot

A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

Related

ENSP00000400892.1, ENST00000449076.6

Conserved Domains (1) summary

pfam14722
Location:128 → 286

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001261844.1 → NP_001248773.1 protein TESPA1 isoform 2

See identical proteins and their annotated locations for NP_001248773.1

Status: VALIDATED

Description

Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform 2.

Source sequence(s)

AB018291, AC079842, AK315972

Consensus CDS

CCDS58240.1

Related

ENSP00000433098.1, ENST00000531122.5

Conserved Domains (1) summary

pfam14722
Location:2 → 148

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001351148.1 → NP_001338077.1 protein TESPA1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform 2.

Source sequence(s)

AC079842

Consensus CDS

CCDS58240.1

Related

ENSP00000432030.1, ENST00000532804.5

Conserved Domains (1) summary

pfam14722
Location:2 → 148

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001351149.2 → NP_001338078.1 protein TESPA1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (6), as well as variants 1 and 2, encodes the longest isoform (1).

Source sequence(s)

AC079842

Consensus CDS

CCDS44913.1

UniProtKB/Swiss-Prot

A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

Conserved Domains (1) summary

pfam14722
Location:128 → 286

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001351150.1 → NP_001338079.1 protein TESPA1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (7) encodes isoform 3.

Source sequence(s)

AC079842

Conserved Domains (1) summary

pfam14722
Location:1 → 77

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
NM_001351151.1 → NP_001338080.1 protein TESPA1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (8), as well as variants 9-12, encodes isoform 4.

Source sequence(s)

AC079842

UniProtKB/TrEMBL

B4DHC1
NM_001351152.1 → NP_001338081.1 protein TESPA1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (9), as well as variants 8 and 10-12, encodes isoform 4.

Source sequence(s)

AC079842

UniProtKB/TrEMBL

B4DHC1
NM_001351153.1 → NP_001338082.1 protein TESPA1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (10), as well as variants 8, 9, 11, and 12, encodes isoform 4.

Source sequence(s)

AC079842

UniProtKB/TrEMBL

B4DHC1
NM_001351154.1 → NP_001338083.1 protein TESPA1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (11), as well as variants 8-10 and 12, encodes isoform 4.

Source sequence(s)

AC079842

UniProtKB/TrEMBL

B4DHC1
NM_001351155.1 → NP_001338084.1 protein TESPA1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (12), as well as variants 8-11, encodes isoform 4.

Source sequence(s)

AC079842

UniProtKB/TrEMBL

B4DHC1
NM_014796.2 → NP_055611.1 protein TESPA1 isoform 2

See identical proteins and their annotated locations for NP_055611.1

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variants 4 and 5, encodes isoform 2.

Source sequence(s)

AB018291, AC079842

Consensus CDS

CCDS58240.1

Related

ENSP00000435622.1, ENST00000524622.5

Conserved Domains (1) summary

pfam14722
Location:2 → 148

KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain