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

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. 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, Dec 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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Creld1 regulates myocardial development and function.
Title: Creld1 regulates myocardial development and function.
Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling.
Title: Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling.

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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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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

EC 5.3.4.1

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)

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

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