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    PVALB parvalbumin [ Homo sapiens (human) ]

    Gene ID: 5816, updated on 10-Dec-2024

    Summary

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    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

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    See PVALB in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36800703..36819499, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37256575..37275349, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37196747..37215543, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CACNG2 divergent transcript Neighboring gene uncharacterized LOC124905112 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13671 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37171863-37172426 Neighboring gene intraflagellar transport 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37172992-37173555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37194619-37195541 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37203445-37204171 Neighboring gene NCF4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37267835-37268373 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37275012-37275204 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene uncharacterized LOC105373022

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Ultrastructural analysis of parvalbumin synapses in human dorsolateral prefrontal cortex. Glausier JR, et al. J Comp Neurol, 2017 Jun 15. PMID 28074478, Free PMC Article
    2. Gene expression deficits in a subclass of GABA neurons in the prefrontal cortex of subjects with schizophrenia. Hashimoto T, et al. J Neurosci, 2003 Jul 16. PMID 12867516, Free PMC Article
    3. PVALB, a new Hürthle adenoma diagnostic marker identified through gene expression. Cerutti JM, et al. J Clin Endocrinol Metab, 2011 Jan. PMID 20926528, Free PMC Article
    4. Parvalbumin: Targeting calcium handling in cardiac diastolic dysfunction. Wang W, et al. Gen Physiol Biophys, 2009. PMID 20093724
    5. Calbindin and parvalbumin immunoreactivity in the developing and adult human retina. Nag TC, et al. Brain Res Dev Brain Res, 1996 May 31. PMID 8804689

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevations in the Mitochondrial Matrix Protein Cyclophilin D Correlate With Reduced Parvalbumin Expression in the Prefrontal Cortex of Patients With Schizophrenia.
      Title: Elevations in the Mitochondrial Matrix Protein Cyclophilin D Correlate With Reduced Parvalbumin Expression in the Prefrontal Cortex of Patients With Schizophrenia.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    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
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    Clone Names

    • MGC116759

    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)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      36800703..36819499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187631.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      21490..40286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37256575..37275349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20472.2 GenPept UniProtKB/Swiss-Prot:P20472

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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