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EFCAB1 EF-hand calcium binding domain 1 [ Homo sapiens (human) ]

Gene ID: 79645, updated on 3-Apr-2018
Official Symbol
EFCAB1provided by HGNC
Official Full Name
EF-hand calcium binding domain 1provided by HGNC
Primary source
HGNC:HGNC:25678
See related
Ensembl:ENSG00000034239 Vega:OTTHUMG00000164203
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
Biased expression in testis (RPKM 3.0), lung (RPKM 2.5) and 9 other tissues See more
Orthologs
Location:
8q11.21
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (48709593..48735843, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (49627474..49647870, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929268 Neighboring gene VISTA enhancer hs1431 Neighboring gene uncharacterized LOC105375823 Neighboring gene uncharacterized LOC101929217 Neighboring gene uncharacterized LOC105375825 Neighboring gene snail family transcriptional repressor 2

  • 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 Jun 15 11:32:44 2016

NHGRI GWAS Catalog

Description
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • FLJ11767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
EF-hand calcium-binding domain-containing protein 1

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_001142857.1NP_001136329.1  EF-hand calcium-binding domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_001136329.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC022915, AK299659, DB204697, DC336596
    Consensus CDS
    CCDS47853.1
    UniProtKB/Swiss-Prot
    Q9HAE3
    UniProtKB/TrEMBL
    A0A024R7U7
    Related
    ENSP00000400873.1, ENST00000433756.1
    Conserved Domains (1) summary
    cl25352
    Location:19118
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_024593.3NP_078869.1  EF-hand calcium-binding domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_078869.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    BC025676, CB250588, DB204697, DB536362
    Consensus CDS
    CCDS6145.1
    UniProtKB/Swiss-Prot
    Q9HAE3
    UniProtKB/TrEMBL
    A0A024R7U5
    Related
    ENSP00000262103.3, OTTHUMP00000226175, ENST00000262103.7, OTTHUMT00000377778
    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family

RNA

  1. NR_024605.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, uses an alternate splice site in the central region and includes an additional splice junction in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as in variant 1, would result in nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC025676, BP375493, CB250588, DA174619, DB204697, DB552638

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    48709593..48735843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447272.1XP_024303040.1  EF-hand calcium-binding domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family
  2. XM_024447271.1XP_024303039.1  EF-hand calcium-binding domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family
  3. XM_011517589.1XP_011515891.1  EF-hand calcium-binding domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011515891.1

    UniProtKB/Swiss-Prot
    Q9HAE3
    UniProtKB/TrEMBL
    A0A024R7U5
    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family
  4. XM_024447270.1XP_024303038.1  EF-hand calcium-binding domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family
  5. XM_017013826.1XP_016869315.1  EF-hand calcium-binding domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A024R7U7
    Related
    ENSP00000430765.1, OTTHUMP00000226177, ENST00000523092.5, OTTHUMT00000377781
    Conserved Domains (1) summary
    cl25352
    Location:19118
    EFh_PEF; The penta-EF hand (PEF) family
  6. XM_011517591.2XP_011515893.1  EF-hand calcium-binding domain-containing protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011515893.1

    Conserved Domains (2) summary
    cd00051
    Location:968
    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 ...
    pfam13499
    Location:40113
    EF-hand_7; EF-hand domain pair
  7. XM_017013827.1XP_016869316.1  EF-hand calcium-binding domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    cd00051
    Location:968
    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 ...
    pfam13499
    Location:40113
    EF-hand_7; EF-hand domain pair
  8. XM_005251303.1XP_005251360.1  EF-hand calcium-binding domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005251360.1

    UniProtKB/Swiss-Prot
    Q9HAE3
    UniProtKB/TrEMBL
    A0A024R7U5
    Conserved Domains (1) summary
    cl25352
    Location:48170
    EFh_PEF; The penta-EF hand (PEF) family
  9. XM_024447274.1XP_024303042.1  EF-hand calcium-binding domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    cd00051
    Location:968
    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 ...
    pfam13499
    Location:40113
    EF-hand_7; EF-hand domain pair
  10. XM_024447273.1XP_024303041.1  EF-hand calcium-binding domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    cd00051
    Location:968
    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 ...
    pfam13499
    Location:40113
    EF-hand_7; EF-hand domain pair
  11. XM_017013828.1XP_016869317.1  EF-hand calcium-binding domain-containing protein 1 isoform X4

RNA

  1. XR_002956645.1 RNA Sequence

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