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

Gene ID: 84455, updated on 4-Oct-2020

Summary

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
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
Expression
Broad expression in testis (RPKM 4.0), ovary (RPKM 1.9) and 23 other tissues See more
Orthologs

Genomic context

See EFCAB7 in Genome Data Viewer
Location:
1p31.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (63523321..63585401)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63989013..64051041)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ALG6 alpha-1,3-glucosyltransferase Neighboring gene integrin subunit beta 3 binding protein Neighboring gene uncharacterized LOC102724319 Neighboring gene RNA, 7SL, cytoplasmic 488, pseudogene Neighboring gene RNA, U7 small nuclear 123 pseudogene Neighboring gene deleted in lymphocytic leukemia 2 like Neighboring gene phosphoglucomutase 1 Neighboring gene uncharacterized LOC105378771 Neighboring gene RNA, 7SL, cytoplasmic 130, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1799, DKFZp666D225

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of protein import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein localization to ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium TAS
Traceable Author Statement
more info
 
extrinsic component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032437.4NP_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
    Related
    ENSP00000360129.4, ENST00000371088.5
    Conserved Domains (2) summary
    COG5126
    Location:17168
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:106166
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    63523321..63585401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542301.2XP_011540603.1  EF-hand calcium-binding domain-containing protein 7 isoform X3

    Conserved Domains (2) summary
    COG5126
    Location:30181
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:119179
    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_006710976.3XP_006711039.1  EF-hand calcium-binding domain-containing protein 7 isoform X1

    Conserved Domains (2) summary
    COG5126
    Location:30181
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:119179
    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_006710977.1XP_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
    Conserved Domains (2) summary
    COG5126
    Location:17168
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:106166
    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_005271274.4XP_005271331.1  EF-hand calcium-binding domain-containing protein 7 isoform X4

    UniProtKB/Swiss-Prot
    A8K855
    Conserved Domains (2) summary
    COG5126
    Location:17168
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:106166
    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 ...
  5. XM_017002548.1XP_016858037.1  EF-hand calcium-binding domain-containing protein 7 isoform X5

RNA

  1. XR_002957809.1 RNA Sequence

  2. XR_001737486.2 RNA Sequence

  3. XR_001737487.2 RNA Sequence

  4. XR_946779.3 RNA Sequence

  5. XR_001737488.1 RNA Sequence

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