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    Creld1 cysteine-rich with EGF-like domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 171508, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Creld1provided by MGI
    Official Full Name
    cysteine-rich with EGF-like domains 1provided by MGI
    Primary source
    MGI:MGI:2152539
    See related
    Ensembl:ENSMUSG00000030284 AllianceGenome:MGI:2152539
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    i11E7
    Summary
    Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be an extracellular matrix structural constituent. Is active in glutamatergic synapse. Is expressed in branchial arch; heart; and nervous system. Human ortholog(s) of this gene implicated in atrioventricular septal defect and heart septal defect. Orthologous to human CRELD1 (cysteine rich with EGF like domains 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 14.0), subcutaneous fat pad adult (RPKM 13.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Creld1 in Genome Data Viewer
    Location:
    6 E3; 6 52.77 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (113460317..113470304)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (113483356..113493343)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor E Neighboring gene predicted gene, 52872 Neighboring gene interleukin 17 receptor C Neighboring gene STARR-positive B cell enhancer ABC_E684 Neighboring gene STARR-seq mESC enhancer starr_17041 Neighboring gene proline-rich transmembrane protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:113467707-113467969 Neighboring gene ER membrane protein complex subunit 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. CRELD1 modulates homeostasis of the immune system in mice and humans. Bonaguro L, et al. Nat Immunol, 2020 Dec. PMID 33169013
    2. Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier. Li H, et al. Genetics, 2016 Jun. PMID 27029737, Free PMC Article
    3. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Robinson SW, et al. Am J Hum Genet, 2003 Apr. PMID 12632326, Free PMC Article
    4. Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. Redig JK, et al. AIMS Genet, 2014. PMID 25328912, Free PMC Article
    5. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Rupp PA, et al. Gene, 2002 Jun 26. PMID 12137942

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Creld1 regulates myocardial development and function.
      Title: Creld1 regulates myocardial development and function.
    2. Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling.
      Title: Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    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 MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein disulfide isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein disulfide isomerase Creld1
    Names
    cysteine-rich with EGF-like domain protein 1
    NP_598691.1

    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_133930.2 → NP_598691.1  protein disulfide isomerase Creld1 precursor

      See identical proteins and their annotated locations for NP_598691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC153910, AK077726, AK155777, BQ573596
      Consensus CDS
      CCDS20423.1
      UniProtKB/Swiss-Prot
      Q8BGJ8, Q91XD7
      UniProtKB/TrEMBL
      A0A9L6KDX8, A8C1T7
      Related
      ENSMUSP00000032422.6, ENSMUST00000032422.6
      Conserved Domains (4) summary
      smart00179
      Location:305 → 337
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210 → 245
      FU; Furin-like repeats
      pfam11938
      Location:46 → 100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245 → 272
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RNA

    1. NR_145485.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC153910, AK077726, AK155777, BQ573596
      Related
      ENSMUST00000249329.1

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      113460317..113470304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91XD7.1 GenPept UniProtKB/Swiss-Prot:Q91XD7

    Gene LinkOut

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

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