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
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

Genomic context

Location:: 10q26.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (133324072..133336896, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135138928..135150482, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat'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.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Dopaminergic synapse, organism-specific biosystem (from KEGG)
Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
Dopaminergic synapse, conserved biosystem (from KEGG)
Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Homology

Homologs of the CALY gene: The CALY gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 136 organisms have orthologs with human gene CALY
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
dopamine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
endosomal transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info

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

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

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

Q9NYX4

Related

ENSP00000252939.4, ENST00000252939.9

Conserved Domains (1) summary

pfam06387
Location:1 → 181

Calcyon; D1 dopamine receptor-interacting protein (calcyon)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p13 Primary Assembly

Range

133324072..133336896 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005252685.4 → XP_005252742.2 neuron-specific vesicular protein calcyon isoform X1

See identical proteins and their annotated locations for XP_005252742.2

Conserved Domains (1) summary

pfam06387
Location:1 → 214

Calcyon; D1 dopamine receptor-interacting protein (calcyon)
XM_011539836.3 → XP_011538138.1 neuron-specific vesicular protein calcyon isoform X1

See identical proteins and their annotated locations for XP_011538138.1

Conserved Domains (1) summary

pfam06387
Location:1 → 214

Calcyon; D1 dopamine receptor-interacting protein (calcyon)
XM_011539838.2 → XP_011538140.1 neuron-specific vesicular protein calcyon isoform X2

Conserved Domains (1) summary

pfam06387
Location:1 → 94

Calcyon; D1 dopamine receptor-interacting protein (calcyon)