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

Gene ID: 90141, updated on 5-Aug-2022

Summary

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

See EFCAB11 in Genome Data Viewer
Location:
14q32.11
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (89794669..89954777, complement)
110 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 Sharpr-MPRA regulatory region 15055 Neighboring gene uncharacterized LOC124903358 Neighboring gene RAB42, member RAS oncogene family, pseudogene 1 Neighboring gene tyrosyl-DNA phosphodiesterase 1 Neighboring gene uncharacterized LOC124903406

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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

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_001284266.2NP_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/Swiss-Prot
    Q9BUY7
    Related
    ENSP00000438072.2, ENST00000538485.6
    Conserved Domains (1) summary
    cl25352
    Location:14138
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001284267.2NP_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:47104
    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_001284268.2NP_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/Swiss-Prot
    Q9BUY7
    Related
    ENSP00000452143.1, ENST00000556005.1
    Conserved Domains (1) summary
    pfam13499
    Location:160
    EF-hand_7; EF-hand domain pair
  4. NM_001284269.2NP_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/Swiss-Prot
    Q9BUY7
    Related
    ENSP00000452320.1, ENST00000555872.5
    Conserved Domains (1) summary
    cl25352
    Location:2128
    EFh_PEF; The penta-EF hand (PEF) family
  5. NM_145231.4NP_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
    Q8NDQ1, Q9BUY7
    Related
    ENSP00000326267.7, ENST00000316738.12
    Conserved Domains (1) summary
    cl25352
    Location:14152
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)