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

    Gene ID: 90141, updated on 27-Nov-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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 2.8), thyroid (RPKM 1.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EFCAB11 in Genome Data Viewer
    Location:
    14q32.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (89794669..89954777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84018846..84178973, complement)
    RS_2024_09 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 (14) 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)

    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 enzyme regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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