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    CGREF1 cell growth regulator with EF-hand domain 1 [ Homo sapiens (human) ]

    Gene ID: 10669, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CGREF1provided by HGNC
    Official Full Name
    cell growth regulator with EF-hand domain 1provided by HGNC
    Primary source
    HGNC:HGNC:16962
    See related
    Ensembl:ENSG00000138028 MIM:606137; AllianceGenome:HGNC:16962
    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
    CGR11
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 22.2), small intestine (RPKM 16.6) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CGREF1 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27099353..27119128, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27141029..27160791, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27322221..27341996, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene AGBL carboxypeptidase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27300904-27301682 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15488 Neighboring gene elastin microfibril interfacer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene ketohexokinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27340928-27341428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27341429-27341929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11286 Neighboring gene abhydrolase domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27357261-27357917 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30

    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 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. The novel secretory protein CGREF1 inhibits the activation of AP-1 transcriptional activity and cell proliferation. Deng W, et al. Int J Biochem Cell Biol, 2015 Aug. PMID 26022276
    2. Induction of cell growth regulatory genes by p53. Madden SL, et al. Cancer Res, 1996 Dec 1. PMID 8968090
    3. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article
    4. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results clearly indicated that CGREF1 is a novel secretory protein, and plays an important role in regulation of AP-1 transcriptional activity and cell proliferation.
      Title: The novel secretory protein CGREF1 inhibits the activation of AP-1 transcriptional activity and cell proliferation.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of cell growth regulator with EF-hand domain 1 (CGREF1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cell growth regulator with EF hand domain protein 1
    Names
    cell growth regulatory gene 11 protein
    hydrophobestin

    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_001166239.2 → NP_001159711.1  cell growth regulator with EF hand domain protein 1 isoform a precursor

      See identical proteins and their annotated locations for NP_001159711.1

      Status: VALIDATED

      Description
      This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a) and both contain a 51-nucleotide tandem repeat in their 3' CDS. This tandem repeat is present in the reference genome sequence but is absent or shorter in other human genomes.
      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS33162.2
      UniProtKB/Swiss-Prot
      A6NHV7, B4DXY8, B5MCB7, B5MCC9, B5MCP5, E7EU99, Q8N4B7, Q99674
      Related
      ENSP00000386113.1, ENST00000405600.5
      Conserved Domains (2) summary
      TIGR00927
      Location:180 → 309
      2A1904; K+-dependent Na+/Ca+ exchanger
      pfam13499
      Location:71 → 142
      EF-hand_7; EF-hand domain pair

    2. NM_001166240.2 → NP_001159712.1  cell growth regulator with EF hand domain protein 1 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC013403, AK302185, BM849276, BX419588
      Consensus CDS
      CCDS54339.1
      UniProtKB/Swiss-Prot
      Q99674
      Related
      ENSP00000385103.1, ENST00000402550.5
      Conserved Domains (1) summary
      pfam13499
      Location:71 → 106
      EF-hand_7; EF-hand domain pair

    3. NM_001301324.2 → NP_001288253.1  cell growth regulator with EF hand domain protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains alternate 3' exon structure, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC013403, AK302185, AL536349, BM849276, BX419588
      UniProtKB/Swiss-Prot
      Q99674

    4. NM_006569.6 → NP_006560.3  cell growth regulator with EF hand domain protein 1 isoform a precursor

      See identical proteins and their annotated locations for NP_006560.3

      Status: VALIDATED

      Description
      This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform (a) and both contain a 51-nucleotide tandem repeat in their 3' CDS. This tandem repeat is present in the reference genome sequence but is absent or shorter in other human genomes.
      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS33162.2
      UniProtKB/Swiss-Prot
      A6NHV7, B4DXY8, B5MCB7, B5MCC9, B5MCP5, E7EU99, Q8N4B7, Q99674
      Related
      ENSP00000385452.1, ENST00000402394.6
      Conserved Domains (2) summary
      TIGR00927
      Location:180 → 309
      2A1904; K+-dependent Na+/Ca+ exchanger
      pfam13499
      Location:71 → 142
      EF-hand_7; EF-hand domain pair

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27099353..27119128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27141029..27160791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001166241.1: Suppressed sequence

      Description
      NM_001166241.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99674.3 GenPept UniProtKB/Swiss-Prot:Q99674

    Gene LinkOut

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