Creld1 MGI Mouse Gene Detail - MGI:2152539 - cysteine-rich with EGF-like domains 1

Symbol

Creld1
Name

cysteine-rich with EGF-like domains 1

Feature Type

protein coding gene
IDs

MGI:2152539
NCBI Gene: 171508
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr6:113460317-113470304 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 52.77 cM
Mapping Data

2 experiments

SNPs within 2kb

316 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2152539	protein coding gene	Chr6:113460258-113470304 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031127	protein coding gene	Chr6:116006206-116016149 (+)
A/J	MGP_AJ_G0031096	protein coding gene	Chr6:111560351-111570387 (+)
AKR/J	MGP_AKRJ_G0031027	protein coding gene	Chr6:114554218-114563951 (+)
BALB/cJ	MGP_BALBcJ_G0031107	protein coding gene	Chr6:111506375-111516447 (+)
C3H/HeJ	MGP_C3HHeJ_G0030601	protein coding gene	Chr6:69732483-69742527 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031566	protein coding gene	Chr6:119008979-119019041 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028730	protein coding gene	Chr6:108588272-108597817 (+)
CAST/EiJ	MGP_CASTEiJ_G0030214	protein coding gene	Chr6:115000193-115011936 (+)
CBA/J	MGP_CBAJ_G0030793	protein coding gene	Chr6:123703207-123713246 (+)
DBA/2J	MGP_DBA2J_G0030946	protein coding gene	Chr6:110639720-110649771 (+)
FVB/NJ	MGP_FVBNJ_G0030900	protein coding gene	Chr6:109641824-109651838 (+)
LP/J	MGP_LPJ_G0031026	protein coding gene	Chr6:116040065-116050124 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030934	protein coding gene	Chr6:127967616-127981087 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031593	protein coding gene	Chr6:114568549-114579241 (+)
PWK/PhJ	MGP_PWKPhJ_G0029930	protein coding gene	Chr6:109596084-109606421 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029758	protein coding gene	Chr6:113387115-113397109 (+)
WSB/EiJ	MGP_WSBEiJ_G0030298	protein coding gene	Chr6:114943175-114954519 (+)

Human Ortholog

CRELD1, cysteine rich with EGF like domains 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CRELD1, cysteine rich with EGF like domains 1
Synonyms

AVSD2, CIRRIN, JELANS
Links

HGNC:14630

NCBI Gene ID: 78987

neXtProt AC: NX_Q96HD1

UniProt: Q96HD1
Chr Location

3p25.3; chr3:9933793-9945413 (+) GRCh38

MGI Vertebrate Homology

Creld1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CRELD1
Gene Tree

Creld1

Diseases

2 with human CRELD1 associations

				Human Disease	Mouse Models
				atrioventricular septal defect IDs atrioventricular septal defect DOID:0050651 ICD10CM:Q21.2 ICD9CM:745.6 ICD9CM:745.60 MESH:D004694 OMIM:606215 OMIM:614430 OMIM:614474 ORDO:98722 UMLS_CUI:C0014116
				heart septal defect IDs heart septal defect DOID:1681 ICD10CM:Q21.9 MESH:D006343 NCI:C84482 UMLS_CUI:C0018816

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

21 phenotypes from 2 alleles in 5 genetic backgrounds
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Endonuclease-mediated

2
Gene trapped

10
Spontaneous

1
Targeted

6
Genomic Mutations

1 involving Creld1
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5.

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All GO Annotations

8
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

764
Tissues

13
cDNA Data

81
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase creld1

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All Sequences

69
RefSeq

3
UniProt

5
CCDS

CCDS20423.1

Ensembl

ENSMUSG00000030284 (Evidence)
NCBI Gene

171508

			Length	Strain/Species	Flank
genomic	171508	NCBI Gene Model \| MGI Sequence Detail	9988	C57BL/6J	± kb
transcript	NM_133930	RefSeq \| MGI Sequence Detail	2264	ZRU/MplStud
polypeptide	Q91XD7	UniProt \| EBI \| MGI Sequence Detail	420	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000031551 protein disulfide isomerase CRELD1

(term hierarchy)
EC

5.3.4.1
InterPro Domains

IPR021852 Domain of unknown function DUF3456

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR006212 Furin-like repeat

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR002049 Laminin-type EGF domain

IPR049883 NOTCH1 EGF-like calcium-binding domain

IPR051146 Phosphatidylserine Receptors and Protein Disulfide Isomerases
GlyGen

Q91XD7 3 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (2 sites)

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All nucleic 82

cDNA 81

Other 1

Microarray probesets 2

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MGI:2141490

Summaries

All 47

Developmental Gene Expression 4

Gene Ontology 5

Phenotypes 20
Earliest

J:78392 Rupp PA, et al., Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Gene. 2002 Jun 26;293(1-2):47-57
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Creld1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58220	Chr6:113460259-113460277 (+)	-49 bp
Tssr58221	Chr6:113460290-113460327 (+)	-8 bp
Tssr58222	Chr6:113460373-113460396 (+)	68 bp
Tssr58223	Chr6:113460410-113460434 (+)	105 bp
Tssr58224	Chr6:113460474-113460485 (+)	163 bp
Tssr58225	Chr6:113460489-113460532 (+)	194 bp
Tssr58226	Chr6:113460545-113460579 (+)	245 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24