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EFCAB11 EF-hand calcium binding domain 11 [ Homo sapiens (human) ]

Gene ID: 90141, updated on 5-Mar-2024

Summary

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Official Symbol
EFCAB11provided by HGNC
Official Full Name
EF-hand calcium binding domain 11provided by HGNC
Primary source
HGNC:HGNC:20357
See related
Ensembl:ENSG00000140025 AllianceGenome:HGNC:20357
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
C14orf143
Summary
Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.8), thyroid (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q32.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (89794669..89954777, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84018846..84178973, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90261013..90421121, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 255 Neighboring gene cysteine and histidine rich domain containing 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90239644-90240256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90359151-90359706 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90377489-90378106 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90378107-90378722 Neighboring gene Sharpr-MPRA regulatory region 15055 Neighboring gene uncharacterized LOC124903358 Neighboring gene RAB42, member RAS oncogene family, pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90420803-90421303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90424329-90424837 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90429220-90430419 Neighboring gene tyrosyl-DNA phosphodiesterase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:90473008-90473175 Neighboring gene uncharacterized LOC124903406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90527279-90527780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90527781-90528280

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Replication the association of 2q32.2-q32.3 and 14q32.11 with hepatocellular carcinoma. Chen W, et al. Gene, 2015 Apr 25. PMID 25665738
  2. Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma. Clifford RJ, et al. Hepatology, 2010 Dec. PMID 21105107, Free PMC Article
  3. Decoding the fine-scale structure of a breast cancer genome and transcriptome. Volik S, et al. Genome Res, 2006 Mar. PMID 16461635, Free PMC Article
  4. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
  5. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: FOXN3

Homology

Clone Names

  • FLJ51529, DKFZp547I1415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
EF-hand calcium-binding domain-containing protein 11
Names
EF-hand domain-containing protein C14orf143

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_001284266.2 → NP_001271195.1  EF-hand calcium-binding domain-containing protein 11 isoform 2

    See identical proteins and their annotated locations for NP_001271195.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks the 3' terminal exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK298930, BG494945, BX161414, DN919194
    Consensus CDS
    CCDS61525.1
    UniProtKB/TrEMBL
    H0YJX4
    Related
    ENSP00000438072.2, ENST00000538485.6
    Conserved Domains (1) summary
    cl25352
    Location:14 → 138
    EFh_PEF; The penta-EF hand (PEF) family

  2. NM_001284267.2 → NP_001271196.1  EF-hand calcium-binding domain-containing protein 11 isoform 3

    See identical proteins and their annotated locations for NP_001271196.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL137230, BP371056, CF593330
    Consensus CDS
    CCDS61522.1
    UniProtKB/Swiss-Prot
    Q9BUY7
    Related
    ENSP00000452335.1, ENST00000556609.5
    Conserved Domains (1) summary
    cd00051
    Location:47 → 104
    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. NM_001284268.2 → NP_001271197.1  EF-hand calcium-binding domain-containing protein 11 isoform 4

    See identical proteins and their annotated locations for NP_001271197.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the UTRs and coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (4) is shorter and has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137128, BX161414, DN919194
    Consensus CDS
    CCDS61524.1
    UniProtKB/TrEMBL
    H0YJX4
    Related
    ENSP00000452143.1, ENST00000556005.1
    Conserved Domains (1) summary
    pfam13499
    Location:1 → 60
    EF-hand_7; EF-hand domain pair

  4. NM_001284269.2 → NP_001271198.1  EF-hand calcium-binding domain-containing protein 11 isoform 5

    See identical proteins and their annotated locations for NP_001271198.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL137128, AL137230, AL832321
    Consensus CDS
    CCDS61523.1
    UniProtKB/TrEMBL
    H0YJX4
    Related
    ENSP00000452320.1, ENST00000555872.5
    Conserved Domains (1) summary
    cl25352
    Location:2 → 128
    EFh_PEF; The penta-EF hand (PEF) family

  5. NM_145231.4 → NP_660274.1  EF-hand calcium-binding domain-containing protein 11 isoform 1

    See identical proteins and their annotated locations for NP_660274.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL137230, CF593330
    Consensus CDS
    CCDS9887.1
    UniProtKB/Swiss-Prot
    B3KT10, B7Z5G9, G3V5G1, Q86T09, Q86TV7, Q8NDQ1, Q9BUY7
    Related
    ENSP00000326267.7, ENST00000316738.12
    Conserved Domains (1) summary
    cl25352
    Location:14 → 152
    EFh_PEF; The penta-EF hand (PEF) family

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    89794669..89954777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    84018846..84178973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUY7.1 GenPept UniProtKB/Swiss-Prot:Q9BUY7

Gene LinkOut

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