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Aliases for CRELD1 Gene

Aliases for CRELD1 Gene

  • Cysteine-Rich With EGF-Like Domains 1 2 3
  • CIRRIN 3 4
  • AVSD2 3 6
  • Cysteine-Rich With EGF-Like Domain Protein 1 3
  • Atrioventricular Septal Defect 2 2

External Ids for CRELD1 Gene

Previous Symbols for CRELD1 Gene

  • AVSD2

Summaries for CRELD1 Gene

Entrez Gene Summary for CRELD1 Gene

  • This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

GeneCards Summary for CRELD1 Gene

CRELD1 (Cysteine-Rich With EGF-Like Domains 1) is a Protein Coding gene. Diseases associated with CRELD1 include atrioventricular septal defect 2 and atrioventricular septal defect. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD2.

Gene Wiki entry for CRELD1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRELD1 Gene

Genomics for CRELD1 Gene

Genomic Location for CRELD1 Gene

Start:
9,933,800 bp from pter
End:
9,945,413 bp from pter
Size:
11,614 bases
Orientation:
Plus strand

Genomic View for CRELD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRELD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRELD1 Gene

Regulatory Elements for CRELD1 Gene

Proteins for CRELD1 Gene

  • Protein details for CRELD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HD1-CREL1_HUMAN
    Recommended name:
    Cysteine-rich with EGF-like domain protein 1
    Protein Accession:
    Q96HD1
    Secondary Accessions:
    • A8MX90
    • B2RAA9
    • Q6I9X5
    • Q8NFT4
    • Q9Y409

    Protein attributes for CRELD1 Gene

    Size:
    420 amino acids
    Molecular mass:
    45440 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CRELD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRELD1 Gene

Proteomics data for CRELD1 Gene at MOPED

Post-translational modifications for CRELD1 Gene

  • Glycosylation at Asn79 and Asn205

Other Protein References for CRELD1 Gene

No data available for DME Specific Peptides for CRELD1 Gene

Domains for CRELD1 Gene

UniProtKB/Swiss-Prot:

CREL1_HUMAN
Domain:
  • Contains 2 EGF-like domains.:
    • Q96HD1
Family:
  • Belongs to the CRELD family.:
    • Q96HD1
Similarity:
  • Contains 2 FU (furin-like) repeats.:
    • Q96HD1
genes like me logo Genes that share domains with CRELD1: view

No data available for Gene Families for CRELD1 Gene

Function for CRELD1 Gene

Molecular function for CRELD1 Gene

UniProtKB/Swiss-Prot Induction: Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.

Gene Ontology (GO) - Molecular Function for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CRELD1: view

miRNA for CRELD1 Gene

miRTarBase miRNAs that target CRELD1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CRELD1 Gene

Localization for CRELD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRELD1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRELD1 Gene COMPARTMENTS Subcellular localization image for CRELD1 gene
Compartment Confidence
extracellular 3
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CRELD1: view

Pathways for CRELD1 Gene

SuperPathways for CRELD1 Gene

No Data Available

Interacting Proteins for CRELD1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000321856%0d%0a9606.ENSP00000219478%0d%0a9606.ENSP00000309606%0d%0a
Selected Interacting proteins: Q96HD1-CREL1_HUMAN ENSP00000321856 for CRELD1 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003197 endocardial cushion development TAS 18076106
GO:0003279 cardiac septum development TAS 18076106
genes like me logo Genes that share ontologies with CRELD1: view

No data available for Pathways by source for CRELD1 Gene

Transcripts for CRELD1 Gene

Unigene Clusters for CRELD1 Gene

Cysteine-rich with EGF-like domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRELD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - - - - -
SP7: - -
SP8: -
SP9:
SP10:

Relevant External Links for CRELD1 Gene

GeneLoc Exon Structure for
CRELD1
ECgene alternative splicing isoforms for
CRELD1

Expression for CRELD1 Gene

mRNA expression in normal human tissues for CRELD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CRELD1 Gene

SOURCE GeneReport for Unigene cluster for CRELD1 Gene Hs.9383

mRNA Expression by UniProt/SwissProt for CRELD1 Gene

Q96HD1-CREL1_HUMAN
Tissue specificity: Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
genes like me logo Genes that share expressions with CRELD1: view

Orthologs for CRELD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRELD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRELD1 36
  • 99.52 (n)
  • 99.76 (a)
CRELD1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRELD1 36
  • 90.63 (n)
  • 92.86 (a)
CRELD1 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRELD1 36
  • 91.43 (n)
  • 93.81 (a)
CRELD1 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Creld1 36
  • 88.97 (n)
  • 91.43 (a)
Creld1 16
Creld1 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRELD1 37
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 47 (a)
OneToMany
-- 37
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Creld1 36
  • 88.97 (n)
  • 91.19 (a)
chicken
(Gallus gallus)
Aves CRELD1 37
  • 48 (a)
OneToOne
LOC100858613 36
  • 72.76 (n)
  • 67.04 (a)
lizard
(Anolis carolinensis)
Reptilia CRELD1 37
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creld1 36
  • 64.75 (n)
  • 60.25 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01112331.1 37
  • 47 (a)
OneToOne
LOC569741 36
  • 65.16 (n)
  • 61.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09E8.2 37
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 37
  • 31 (a)
OneToMany
Species with no ortholog for CRELD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRELD1 Gene

ENSEMBL:
Gene Tree for CRELD1 (if available)
TreeFam:
Gene Tree for CRELD1 (if available)

Paralogs for CRELD1 Gene

Paralogs for CRELD1 Gene

Selected SIMAP similar genes for CRELD1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CRELD1: view

Variants for CRELD1 Gene

Sequence variations from dbSNP and Humsavar for CRELD1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs279552 Benign, - 9,934,475(+) CAGCT(A/G)TGCTC missense, reference, nc-transcript-variant
rs388344 -- 9,935,697(-) agcat(C/T)tttta intron-variant
rs465586 -- 9,941,423(+) TGATC(C/T)AGTTC intron-variant
rs1185205 -- 9,940,419(+) ccggc(A/C)cctcg intron-variant
rs1626796 -- 9,941,683(+) tactc(A/T)ggagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRELD1 Gene

Variant ID Type Subtype PubMed ID
nsv834615 CNV Loss 17160897

Relevant External Links for CRELD1 Gene

HapMap Linkage Disequilibrium report
CRELD1
Human Gene Mutation Database (HGMD)
CRELD1

Disorders for CRELD1 Gene

(1) OMIM Diseases for CRELD1 Gene (607170)

UniProtKB/Swiss-Prot

CREL1_HUMAN
  • Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:12632326, ECO:0000269 PubMed:15857420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CRELD1 Gene

Relevant External Links for CRELD1

Genetic Association Database (GAD)
CRELD1
Human Genome Epidemiology (HuGE) Navigator
CRELD1
genes like me logo Genes that share disorders with CRELD1: view

Publications for CRELD1 Gene

  1. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (PMID: 12632326) Robinson S.W. … Maslen C.L. (Am. J. Hum. Genet. 2003) 3 4 23
  2. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. (PMID: 12137942) Rupp P.A. … Maslen C.L. (Gene 2002) 2 3 4
  3. Detailed mapping of a congenital heart disease gene in chromosome 3p25. (PMID: 10922384) Green E.K. … Maher E.R. (J. Med. Genet. 2000) 2 3
  4. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. (PMID: 18076106) Posch M.G. … Berger F. (Am. J. Med. Genet. A 2008) 3 23
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for CRELD1 Gene

Sources for CRELD1 Gene

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