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    PVALEF parvalbumin like EF-hand containing [ Homo sapiens (human) ]

    Gene ID: 388428, updated on 17-Sep-2024

    Summary

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    Official Symbol
    PVALEFprovided by HGNC
    Official Full Name
    parvalbumin like EF-hand containingprovided by HGNC
    Primary source
    HGNC:HGNC:40053
    See related
    Ensembl:ENSG00000225180 AllianceGenome:HGNC:40053
    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
    AATK-AS1
    Summary
    Predicted to enable actin filament binding activity; calcium ion binding activity; and calcium-dependent protein binding activity. Predicted to be involved in regulation of muscle contraction and skeletal muscle contraction. Predicted to be part of troponin complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See PVALEF in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81165507..81183166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82073848..82091517)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79139307..79156966)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904079 Neighboring gene apoptosis associated tyrosine kinase Neighboring gene microRNA 1250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79116907-79117407 Neighboring gene uncharacterized LOC124904080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138075-79138818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138819-79139562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79161487-79162058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79166719-79167436 Neighboring gene centrosomal protein 131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79195126-79195796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79195797-79196466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79196467-79197136 Neighboring gene uncharacterized LOC105371925 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein

    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 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • FLJ44861

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of troponin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    parvalbumin-like EF-hand-containing protein
    Names
    AATK antisense RNA 1 (non-protein coding)

    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_001354639.2 → NP_001341568.1  parvalbumin-like EF-hand-containing protein

      Status: VALIDATED

      Source sequence(s)
      AC027601, AC115099
      Consensus CDS
      CCDS86647.1
      UniProtKB/Swiss-Prot
      A0A1B0GWK0
      Related
      ENSP00000490956.1, ENST00000637878.2
      Conserved Domains (2) summary
      cd16251
      Location:22 → 51
      EFh_parvalbumin_like; EF-hand motif [structural motif]
      cl25356
      Location:22 → 124
      EFh_parvalbumin_like; EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81165507..81183166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82073848..82091517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207389.1: Suppressed sequence

      Description
      NM_207389.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NR_027255.1: Suppressed sequence

      Description
      NR_027255.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GWK0.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GWK0

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials