TPRG1L tumor protein p63 regulated 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPRG1Lprovided by HGNC
Official Full Name: tumor protein p63 regulated 1 likeprovided by HGNC
Primary source: HGNC:HGNC:27007
See related: Ensembl:ENSG00000158109 MIM:611460; AllianceGenome:HGNC:27007
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: TPRGL; mover; FAM79A; SVAP30; h-mover
Summary: Predicted to enable calmodulin binding activity and identical protein binding activity. Predicted to be involved in presynaptic modulation of chemical synaptic transmission; regulation of glutamatergic synaptic transmission; and regulation of synaptic vesicle exocytosis. Predicted to act upstream of or within calcineurin-NFAT signaling cascade; negative regulation of synaptic transmission; and synaptic vesicle docking. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 35.5), kidney (RPKM 30.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (3625015..3630127)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (3135110..3140200)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (3541579..3546691)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

mover may act in concert with generally expressed scaffolding proteins in distinct sets of presynaptic terminals
Title: Mover is a novel vertebrate-specific presynaptic protein with differential distribution at subsets of CNS synapses.

Submit: New GeneRIF Correction

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

G20693 (e-PCR)
- UniSTS:40250

A006C08 (e-PCR)
- UniSTS:40251

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcineurin-NFAT signaling cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle docking	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in calyx of Held	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tumor protein p63-regulated gene 1-like protein

Names: RP11-46F15.3; family with sequence similarity 79, member A; mossy fiber terminal-associated vertebrate-specific presynaptic protein

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.