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EFHC1 EF-hand domain (C-terminal) containing 1 [ Homo sapiens (human) ]

Gene ID: 114327, updated on 23-Oct-2014
Official Symbol
EFHC1provided by HGNC
Official Full Name
EF-hand domain (C-terminal) containing 1provided by HGNC
Primary source
HGNC:HGNC:16406
See related
Ensembl:ENSG00000096093; HPRD:10583; MIM:608815; Vega:OTTHUMG00000014848
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EJM1; dJ304B14.2
Summary
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
See EFHC1 in Epigenomics, MapViewer
Location:
6p12.3
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (52420196..52495785)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (52284994..52360583)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance complex component 3 Neighboring gene progestin and adipoQ receptor family member VIII Neighboring gene translocation associated membrane protein 2 Neighboring gene TRAM2 antisense RNA 1 (head to head)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: PAQR8

Homology

Clone Names

  • FLJ10466, FLJ37290

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
EF-hand domain-containing protein 1
Names
EF-hand domain-containing protein 1
myoclonin-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.

Genomic

  1. NG_016760.1 

    Range
    5001..80590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172420.1NP_001165891.1  EF-hand domain-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK297632, AL049611, AY608689, BQ268404, EU520261
    Consensus CDS
    CCDS55021.1
    UniProtKB/TrEMBL
    B2CKC5
    UniProtKB/Swiss-Prot
    Q5JVL4
    Related
    ENSP00000444521, ENST00000538167
    Conserved Domains (3) summary
    smart00676
    Location:74179
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    cd00051
    Location:560620
    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:565619
    EF-hand_7; EF-hand domain pair
  2. NM_018100.3NP_060570.2  EF-hand domain-containing protein 1 isoform 1

    See proteins identical to NP_060570.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) encodes the longer isoform (1).
    Source sequence(s)
    AK001328, AL049611, BC020210, BQ270560, DA906669
    Consensus CDS
    CCDS4942.1
    UniProtKB/TrEMBL
    B2CKC5
    UniProtKB/Swiss-Prot
    Q5JVL4
    Related
    ENSP00000360107, OTTHUMP00000016605, ENST00000371068, OTTHUMT00000040905
    Conserved Domains (3) summary
    smart00676
    Location:93198
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    cd00051
    Location:579639
    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:584638
    EF-hand_7; EF-hand domain pair

RNA

  1. NR_033327.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) contains an alternate segment, compared to variant A. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant A, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK001328, AK225543, AL049611, AL122084, BQ268404, DA906669

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    52420196..52495785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    52116296..52191906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    52287207..52362796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)