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

Gene ID: 388428, updated on 5-Mar-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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Location:
17q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81165507..81183166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82073848..82091517)
105.20220307 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
  • 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_2023_10

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

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