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EFCAB13 EF-hand calcium binding domain 13 [ Homo sapiens (human) ]

Gene ID: 124989, updated on 23-Nov-2021

Summary

Official Symbol
EFCAB13provided by HGNC
Official Full Name
EF-hand calcium binding domain 13provided by HGNC
Primary source
HGNC:HGNC:26864
See related
Ensembl:ENSG00000178852
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
Also known as
C17orf57
Expression
Broad expression in testis (RPKM 5.5), thyroid (RPKM 2.8) and 21 other tissues See more
Orthologs
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Genomic context

See EFCAB13 in Genome Data Viewer
Location:
17q21.32
Exon count:
25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (47323955..47441312)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45401321..45518678)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2033 Neighboring gene integrin subunit beta 3 Neighboring gene EFCAB13 divergent transcript Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 pseudogene Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 2 Neighboring gene mitochondrial ribosomal protein L45 pseudogene 2 Neighboring gene aminopeptidase puromycin sensitive Neighboring gene KPNB1 divergent transcript

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

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ITGB3

Homology

Clone Names

  • FLJ36110, FLJ40342, FLJ58126

General protein information

Preferred Names
EF-hand calcium-binding domain-containing protein 13
Names
EF-hand domain-containing protein C17orf57

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_001195192.2NP_001182121.1  EF-hand calcium-binding domain-containing protein 13 isoform B

    See identical proteins and their annotated locations for NP_001182121.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (B) contains an alternate segment in the 3' UTR and lacks two internal in-frame exons and the last exon, compared to variant A. The resulting protein (isoform B) is shorter than isoform A.
    Source sequence(s)
    AC040934, AC068234, BC036407, BC037876, BX471329
    Consensus CDS
    CCDS56034.1
    UniProtKB/Swiss-Prot
    Q8IY85
    Related
    ENSP00000430048.1, ENST00000517484.5
    Conserved Domains (2) summary
    COG5126
    Location:440566
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cl08302
    Location:375422
    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. NM_152347.5NP_689560.3  EF-hand calcium-binding domain-containing protein 13 isoform A

    See identical proteins and their annotated locations for NP_689560.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    AC040934, AC068234, BC036407, BX471329
    Consensus CDS
    CCDS11512.1
    UniProtKB/Swiss-Prot
    Q8IY85
    Related
    ENSP00000332111.2, ENST00000331493.7
    Conserved Domains (3) summary
    PTZ00184
    Location:448592
    PTZ00184; calmodulin; Provisional
    COG5126
    Location:536662
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cl08302
    Location:471518
    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 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    47323955..47441312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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