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EFCAB14 EF-hand calcium binding domain 14 [ Homo sapiens (human) ]

Gene ID: 9813, updated on 10-Oct-2023

Summary

Official Symbol
EFCAB14provided by HGNC
Official Full Name
EF-hand calcium binding domain 14provided by HGNC
Primary source
HGNC:HGNC:29051
See related
Ensembl:ENSG00000159658 MIM:619559; AllianceGenome:HGNC:29051
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
KIAA0494
Summary
Predicted to enable calcium ion binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in stomach (RPKM 36.1), fat (RPKM 35.6) and 25 other tissues See more
Orthologs
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Genomic context

See EFCAB14 in Genome Data Viewer
Location:
1p33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46675159..46719114, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46552399..46596351, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47140831..47184786, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47131482-47132011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47132012-47132540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47133653-47133823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1007 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene uncharacterized LOC105378698 Neighboring gene testis expressed 38 Neighboring gene Sharpr-MPRA regulatory region 7632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47193413-47194254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47194255-47195096 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47210608-47210835 Neighboring gene uncharacterized LOC105378699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47256389-47256889 Neighboring gene cytochrome P450 family 4 subfamily B member 1

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

EBI GWAS Catalog

Description
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
EF-hand calcium-binding domain-containing protein 14

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_014774.3NP_055589.1  EF-hand calcium-binding domain-containing protein 14

    See identical proteins and their annotated locations for NP_055589.1

    Status: VALIDATED

    Source sequence(s)
    AA974135, AB007963, AL593856, BC002525
    Consensus CDS
    CCDS30706.1
    UniProtKB/Swiss-Prot
    D3DQ23, O75071, Q5SXB8
    UniProtKB/TrEMBL
    A0A804H3B5
    Related
    ENSP00000361001.3, ENST00000371933.8
    Conserved Domains (2) summary
    cl08302
    Location:438489
    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 ...
    cl25732
    Location:98387
    SMC_N; RecF/RecN/SMC N terminal domain

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
    46675159..46719114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46552399..46596351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)