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Aliases for CRELD1 Gene

Aliases for CRELD1 Gene

  • Cysteine Rich With EGF Like Domains 1 2 3
  • Cysteine Rich With EGF-Like Domains 1 2 3 5
  • Cysteine-Rich With EGF-Like Domains 1 2 3
  • CIRRIN 3 4
  • Atrioventricular Septal Defect 2 2
  • AVSD2 3

External Ids for CRELD1 Gene

Previous HGNC Symbols for CRELD1 Gene

  • AVSD2

Previous GeneCards Identifiers for CRELD1 Gene

  • GC03U990184
  • GC03P009915
  • GC03P009967
  • GC03P009951
  • GC03P009952
  • GC03P009953
  • GC03P009975
  • GC03P009913

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

Regulatory Elements for CRELD1 Gene

Genomic Location for CRELD1 Gene

Chromosome:
3
Start:
9,933,788 bp from pter
End:
9,945,413 bp from pter
Size:
11,626 bases
Orientation:
Plus strand

Genomic View for CRELD1 Gene

Genes around CRELD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRELD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRELD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 Asn 79 and Asn 205
  • Modification sites at PhosphoSitePlus

Other Protein References for CRELD1 Gene

Antibody Products

No data available for DME Specific Peptides for CRELD1 Gene

Domains & Families for CRELD1 Gene

Suggested Antigen Peptide Sequences for CRELD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HD1

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CRELD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CRELD1

miRNA for CRELD1 Gene

miRTarBase miRNAs that target CRELD1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 3
extracellular 3
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CRELD1 Gene

Pathways & Interactions 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 I2D STRING

Gene Ontology (GO) - Biological Process for CRELD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CRELD1 Gene

Drugs & Compounds for CRELD1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for CRELD1 Gene

This gene is overexpressed in Bone (19.3) and Plasma (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CRELD1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CRELD1 Gene

Orthologs for CRELD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRELD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRELD1 35
  • 90.63 (n)
  • 92.86 (a)
CRELD1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRELD1 35
  • 91.43 (n)
  • 93.81 (a)
CRELD1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Creld1 35
  • 88.97 (n)
  • 91.43 (a)
Creld1 16
Creld1 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRELD1 35
  • 99.52 (n)
  • 99.76 (a)
CRELD1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Creld1 35
  • 88.97 (n)
  • 91.19 (a)
oppossum
(Monodelphis domestica)
Mammalia CRELD1 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858613 35
  • 72.76 (n)
  • 67.04 (a)
CRELD1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRELD1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creld1 35
  • 64.75 (n)
  • 60.25 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC569741 35
  • 65.16 (n)
  • 61.87 (a)
CABZ01112331.1 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11377 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09E8.2 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 36
  • 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

(4) 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
rs28941780 - 9,937,624(+) CCACC(A/G)CCTGC reference, missense
VAR_023765 -
rs28942092 - 9,943,399(+) TGAGA(C/T)AGAGG reference, missense
rs28942091 - 9,943,452(+) GTTAT(C/T)GCTGC reference, missense
rs279552 - 9,934,475(+) CAGCT(A/G)TGCTC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv834615 CNV Loss 17160897

Variation tolerance for CRELD1 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRELD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRELD1 Gene

Disorders for CRELD1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for CRELD1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
atrioventricular septal defect 2
  • atrioventricular septal defect, partial, with heterotaxy syndrome
atrioventricular septal defect
  • atrioventricular canal defect
complete atrioventricular canal-fallot tetralogy syndrome
  • cavc type c
complete atrioventricular canal-left heart obstruction syndrome
  • cavc type a
subvalvular aortic stenosis
  • aortic stenosis, subvalvular
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CRELD1

Genetic Association Database (GAD)
CRELD1
Human Genome Epidemiology (HuGE) Navigator
CRELD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRELD1
genes like me logo Genes that share disorders with CRELD1: view

No data available for Genatlas for CRELD1 Gene

Publications for CRELD1 Gene

  1. 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 67
  2. 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
  3. 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 23
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CRELD1 Gene

Sources for CRELD1 Gene

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