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    EFCAB7 EF-hand calcium binding domain 7 [ Homo sapiens (human) ]

    Gene ID: 84455, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EFCAB7provided by HGNC
    Official Full Name
    EF-hand calcium binding domain 7provided by HGNC
    Primary source
    HGNC:HGNC:29379
    See related
    Ensembl:ENSG00000203965 MIM:617632; AllianceGenome:HGNC:29379
    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
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in positive regulation of protein import into nucleus; positive regulation of protein localization to ciliary membrane; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 4.0), ovary (RPKM 1.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EFCAB7 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63523525..63585370)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63399112..63465319)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63989196..64038364)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1125 Neighboring gene ALG6 alpha-1,3-glucosyltransferase Neighboring gene integrin subunit beta 3 binding protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63939727-63940644 Neighboring gene uncharacterized LOC102724319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63988295-63988918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1126 Neighboring gene RNA, 7SL, cytoplasmic 488, pseudogene Neighboring gene RNA, U7 small nuclear 123 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:64038344-64038938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64039532-64040125 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64040126-64040718 Neighboring gene deleted in lymphocytic leukemia 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1128 Neighboring gene phosphoglucomutase 1 Neighboring gene uncharacterized LOC105378771 Neighboring gene RNA, 7SL, cytoplasmic 130, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:64140637-64141138 Neighboring gene NANOG hESC enhancer GRCh37_chr1:64179745-64180246 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:64187597-64188096

    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. Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. Nguyen TQN, et al. Congenit Anom (Kyoto), 2019 Mar. PMID 29845660
    2. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. Nguyen TQ, et al. Congenit Anom (Kyoto), 2016 Sep. PMID 26748586
    3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    4. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • KIAA1799, DKFZp666D225

    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 positive regulation of protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein localization to ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein localization to ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of plasma membrane protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of plasma membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 7

    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_032437.4 → NP_115813.2  EF-hand calcium-binding domain-containing protein 7

      See identical proteins and their annotated locations for NP_115813.2

      Status: VALIDATED

      Source sequence(s)
      AK315850, AL833720
      Consensus CDS
      CCDS30737.1
      UniProtKB/Swiss-Prot
      A8K855, Q658P0, Q96B95, Q96JM6
      Related
      ENSP00000360129.4, ENST00000371088.5
      Conserved Domains (2) summary
      COG5126
      Location:17 → 168
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:106 → 166
      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 ...

    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
      63523525..63585370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542301.3 → XP_011540603.1  EF-hand calcium-binding domain-containing protein 7 isoform X3

      Conserved Domains (2) summary
      COG5126
      Location:30 → 181
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:119 → 179
      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 ...

    2. XM_006710977.2 → XP_006711040.1  EF-hand calcium-binding domain-containing protein 7 isoform X2

      See identical proteins and their annotated locations for XP_006711040.1

      UniProtKB/Swiss-Prot
      A8K855, Q658P0, Q96B95, Q96JM6
      Conserved Domains (2) summary
      COG5126
      Location:17 → 168
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:106 → 166
      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 ...

    3. XM_006710976.4 → XP_006711039.1  EF-hand calcium-binding domain-containing protein 7 isoform X1

      Conserved Domains (2) summary
      COG5126
      Location:30 → 181
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:119 → 179
      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 ...

    4. XM_047432129.1 → XP_047288085.1  EF-hand calcium-binding domain-containing protein 7 isoform X4

    RNA

    1. XR_946779.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      63399112..63465319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339199.1 → XP_054195174.1  EF-hand calcium-binding domain-containing protein 7 isoform X3

    2. XM_054339197.1 → XP_054195172.1  EF-hand calcium-binding domain-containing protein 7 isoform X1

    3. XM_054339200.1 → XP_054195175.1  EF-hand calcium-binding domain-containing protein 7 isoform X4

    4. XM_054339198.1 → XP_054195173.1  EF-hand calcium-binding domain-containing protein 7 isoform X2

      UniProtKB/Swiss-Prot
      A8K855, Q658P0, Q96B95, Q96JM6

    RNA

    1. XR_008486179.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8K855.1 GenPept UniProtKB/Swiss-Prot:A8K855

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