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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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