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    EFCAB14 EF-hand calcium binding domain 14 [ Homo sapiens (human) ]

    Gene ID: 9813, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EFCAB14provided by HGNC
    Official Full Name
    EF-hand calcium binding domain 14provided by HGNC
    Primary source
    HGNC:HGNC:29051
    See related
    Ensembl:ENSG00000159658 MIM:619559; AllianceGenome:HGNC:29051
    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
    KIAA0494
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in stomach (RPKM 36.1), fat (RPKM 35.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EFCAB14 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46675159..46719114, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46552399..46596351, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47140831..47184786, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47131482-47132011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47132012-47132540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47133653-47133823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1007 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene uncharacterized LOC105378698 Neighboring gene testis expressed 38 Neighboring gene Sharpr-MPRA regulatory region 7632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47193413-47194254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47194255-47195096 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47210608-47210835 Neighboring gene uncharacterized LOC105378699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47256389-47256889 Neighboring gene cytochrome P450 family 4 subfamily B member 1

    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. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. Lange CM, et al. Hepatology, 2012 Apr. PMID 22095909
    2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484
    3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. Szafranski K, et al. Genome Biol, 2007. PMID 17672918, Free PMC Article
    4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. So J, et al. Sci Signal, 2015 Apr 7. PMID 25852190
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. occurrence of an unusual TG 3' splice site in intron 1
      Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
    Submit: New GeneRIF Correction

    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
    Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0494

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 14

    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_014774.3 → NP_055589.1  EF-hand calcium-binding domain-containing protein 14

      See identical proteins and their annotated locations for NP_055589.1

      Status: VALIDATED

      Source sequence(s)
      AA974135, AB007963, AL593856, BC002525
      Consensus CDS
      CCDS30706.1
      UniProtKB/Swiss-Prot
      D3DQ23, O75071, Q5SXB8
      UniProtKB/TrEMBL
      A0A804H3B5
      Related
      ENSP00000361001.3, ENST00000371933.8
      Conserved Domains (2) summary
      cl08302
      Location:438 → 489
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl25732
      Location:98 → 387
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46675159..46719114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46552399..46596351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75071.1 GenPept UniProtKB/Swiss-Prot:O75071

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