CALY calcyon neuron specific vesicular protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALYprovided by HGNC
Official Full Name: calcyon neuron specific vesicular proteinprovided by HGNC
Primary source: HGNC:HGNC:17938
See related: Ensembl:ENSG00000130643 MIM:604647; AllianceGenome:HGNC:17938
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: NSG3; DRD1IP
Summary: The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 10.6), adrenal (RPKM 3.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133324072..133336896, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134278597..134292046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135137576..135150400, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

This review focuses on two closely related, neuron-enriched endosomal proteins: NEEP21 and Calcyon which perform distinct roles in regulating receptor endocytosis, recycling, and degradation--{REVIEW}
Title: Complementary roles of the neuron-enriched endosomal proteins NEEP21 and calcyon in neuronal vesicle trafficking.
Calcyon forms a novel ternary complex with dopamine D1 receptor through PSD-95 protein and plays a role in dopamine receptor internalization
Title: Calcyon forms a novel ternary complex with dopamine D1 receptor through PSD-95 protein and plays a role in dopamine receptor internalization.
Association of the calcyon neuron-specific vesicular protein gene (CALY) with adolescent smoking initiation.
Title: Association of the calcyon neuron-specific vesicular protein gene (CALY) with adolescent smoking initiation in China and California.
Observational study of gene-disease association. (HuGE Navigator)
Title: Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
mobility and storage properties of calcyon-containing vesicles imply that they play a role in brain plasticity
Title: Intracellular dynamics of calcyon, a neuron-specific vesicular protein.
Quantitative trait analyses of most common haplotype, designated C1, showed significant relationships with both the inattentive and hyperactive/impulsive dimensions of the disorder.
Title: Association of the calcyon gene (DRD1IP) with attention deficit/hyperactivity disorder.
Using the calcyon cytosolic domain as bait, we isolated clathrin light chain in a yeast two-hybrid screen. The interaction domain was mapped to the heavy chain binding domain and C-terminal regions of light chain.
Title: Calcyon, a novel partner of clathrin light chain, stimulates clathrin-mediated endocytosis.
Genetic variants in the CALCYON gene do not play a major role in predisposition to either schizophrenia or cocaine dependence i
Title: CALCYON gene variation, schizophrenia, and cocaine dependence.
CaMKII is a key effector in the Ca2+ and microtubule-dependent delivery of calcyon to the cell surface.
Title: Elevated intracellular calcium triggers recruitment of the receptor cross-talk accessory protein calcyon to the plasma membrane.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables clathrin light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin light chain binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of clathrin coat assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of retrograde axon cargo transport	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic endocytic zone	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic endocytic zone	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: neuron-specific vesicular protein calcyon

Names: D1 dopamine receptor-interacting protein; calcyon D1 dopamine receptor-interacting protein (CALCYON); calcyon protein; dopamine receptor D1 interacting 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.

mRNA and Protein(s)

NM_001321617.2 → NP_001308546.1 neuron-specific vesicular protein calcyon isoform 2

Status: VALIDATED

Source sequence(s)

AL360181

Conserved Domains (1) summary

pfam06387
Location:38 → 99

Calcyon; D1 dopamine receptor-interacting protein (calcyon)
NM_015722.4 → NP_056537.1 neuron-specific vesicular protein calcyon isoform 1

See identical proteins and their annotated locations for NP_056537.1

Status: VALIDATED

Source sequence(s)

AL360181, BC038978, BI914942, BP392207

Consensus CDS

CCDS7678.1

UniProtKB/Swiss-Prot

Q5VWX3, Q5VWY5, Q5VWY6, Q9NYX4

Related

ENSP00000252939.4, ENST00000252939.9

Conserved Domains (1) summary

pfam06387
Location:1 → 181

Calcyon; D1 dopamine receptor-interacting protein (calcyon)