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

Gene ID: 171508, updated on 5-Apr-2024

Summary

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. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in 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, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 14.0), subcutaneous fat pad adult (RPKM 13.2) and 28 other tissues See more
Orthologs
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Genomic context

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

Expression

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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 isomerase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_133930.2NP_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:305337
    EGF_CA; Calcium-binding EGF-like domain
    smart00261
    Location:210245
    FU; Furin-like repeats
    pfam11938
    Location:46100
    DUF3456; TLR4 regulator and MIR-interacting MSAP
    cl21504
    Location:245272
    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)