PVALB parvalbumin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PVALBprovided by HGNC
Official Full Name: parvalbuminprovided by HGNC
Primary source: HGNC:HGNC:9704
See related: Ensembl:ENSG00000100362 MIM:168890; AllianceGenome:HGNC:9704
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D22S749
Summary: The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Expression: Biased expression in kidney (RPKM 20.1) and brain (RPKM 2.2) See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36800703..36819499, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37256575..37275349, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37196747..37215543, complement)

Chromosome 22 - NC_000022.11 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
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?

The Nature of Prefrontal Cortical GABA Neuron Alterations in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene Expression Without Missing Neurons.
Title: The Nature of Prefrontal Cortical GABA Neuron Alterations in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene Expression Without Missing Neurons.
Strontium Binding to alpha-Parvalbumin, a Canonical Calcium-Binding Protein of the ""EF-Hand"" Family.
Title: Strontium Binding to α-Parvalbumin, a Canonical Calcium-Binding Protein of the "EF-Hand" Family.
Age-related changes in the number of cresyl-violet-stained, parvalbumin and NMDAR 2B expressing neurons in the human spiral ganglion.
Title: Age-related changes in the number of cresyl-violet-stained, parvalbumin and NMDAR 2B expressing neurons in the human spiral ganglion.
Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney.
Title: Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney.
Propofol sedation-induced alterations in brain connectivity reflect parvalbumin interneurone distribution in human cerebral cortex.
Title: Propofol sedation-induced alterations in brain connectivity reflect parvalbumin interneurone distribution in human cerebral cortex.
Transcriptional and imaging-genetic association of cortical interneurons, brain function, and schizophrenia risk.
Title: Transcriptional and imaging-genetic association of cortical interneurons, brain function, and schizophrenia risk.
GluN2D-mediated excitatory drive onto medial prefrontal cortical PV+ fast-spiking inhibitory interneurons.
Title: GluN2D-mediated excitatory drive onto medial prefrontal cortical PV+ fast-spiking inhibitory interneurons.
PVALB promoter methylation in major depressive disorder and its correlation with major depressive disorder severity indicating a role for epigenetics in this psychiatric disorder.
Title: Parvalbumin Promoter Methylation Altered in Major Depressive Disorder.
These results provide the first evidence that PVALB promoter methylation is abnormal in schizophrenia and suggest that this epigenetic finding may relate to the reduction of PV expression seen in the disease.
Title: Parvalbumin promoter hypermethylation in postmortem brain in schizophrenia.
the Calreticulin deficiency-mediated increase in cell death was not prevented by calbindin-D28k or Parvalbumin.
Title: Calretinin Functions in Malignant Mesothelioma Cells Cannot Be Replaced by the Closely Related Ca(2+)-Binding Proteins Calbindin-D28k and Parvalbumin.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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

EBI GWAS Catalog

Description
A genome-wide association study of female sexual dysfunction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of parvalbumin (PVALB) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483851

SGC30938 (e-PCR)
- UniSTS:19994

NoName (e-PCR)
- UniSTS:481411

GDB:187324 (e-PCR)
- UniSTS:155544

SHGC-11984 (e-PCR)
- UniSTS:39078

GDB:190931 (e-PCR)
- UniSTS:155636

D22S1030 (e-PCR)
- UniSTS:6907

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in excitatory chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in inhibitory chemical synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: parvalbumin alpha

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_001315532.2 → NP_001302461.1 parvalbumin alpha

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AV724364, DA054941, DA392417

Consensus CDS

CCDS13933.1

UniProtKB/Swiss-Prot

B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9

UniProtKB/TrEMBL

B8ZZ19

Related

ENSP00000400247.2, ENST00000417718.7

Conserved Domains (1) summary

cd16254
Location:9 → 109

EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin
NM_002854.3 → NP_002845.1 parvalbumin alpha

See identical proteins and their annotated locations for NP_002845.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA771973, AI262242, BC069300, Z82185

Consensus CDS

CCDS13933.1

UniProtKB/Swiss-Prot

B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9

UniProtKB/TrEMBL

B8ZZ19

Related

ENSP00000216200.5, ENST00000216200.9

Conserved Domains (1) summary

cd16254
Location:9 → 109

EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin