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

Gene ID: 84455, updated on 5-Mar-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 ciliary membrane. Predicted to be extrinsic component of membrane. Predicted to be part of plasma membrane protein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 4.0), ovary (RPKM 1.9) and 23 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63523525..63585370)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63399112..63465319)
105.20220307 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 (18) 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)

Genotypes

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_2023_10

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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