Display Settings:

Format

Send to:

Choose Destination

    CRELD1 cysteine-rich with EGF-like domains 1 [ Homo sapiens ]

    Gene ID: 78987, updated on 11-May-2012

    Summary

    Official Symbol
    CRELD1provided by HGNC
    Official Full Name
    cysteine-rich with EGF-like domains 1provided by HGNC
    Primary source
    HGNC:14630
    Locus tag
    UNQ188/PRO214
    See related
    Ensembl:ENSG00000163703; HPRD:06206; MIM:607170; Vega:OTTHUMG00000128653
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AVSD2; CIRRIN; DKFZp566D213
    Summary
    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]

    Genomic context

    Location :
    3p25.3
    Sequence :
    Chromosome: 3; NC_000003.11 (9975524..9987097)
    See CRELD1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor E Neighboring gene interleukin 17 receptor C Neighboring gene proline-rich transmembrane protein 3 Neighboring gene ER membrane protein complex subunit 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96HD1 P56134 ATP5J2    HPRD  PubMed  
    Q96HD1 Q7L5N1 COPS6    HPRD  PubMed  
    Q96HD1 P26641 EEF1G    HPRD  PubMed  
    Q96HD1 P56537 EIF6    HPRD  PubMed  
    Q96HD1 O60383 GDF9    HPRD  PubMed  
    Q96HD1 Q92993 KAT5    HPRD  PubMed  
    Q96HD1 Q14181 POLA2    HPRD  PubMed  
    Q96HD1 P21246 PTN    HPRD  PubMed  
    Q96HD1 Q15047 SETDB1    HPRD  PubMed  
    BioGRID:122458 BioGRID:114923 ATP5J2    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:116176 COPS6    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:108257 EEF1G    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:109898 EIF6    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:108930 GDF9    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:115779 KAT5    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:117176 POLA2    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:111731 PTN    BioGRID  PubMed Two-hybrid 
    BioGRID:122458 BioGRID:115202 SETDB1    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cardiac septum development TAS
    Traceable Author Statement
    more info
    PubMed 
    endocardial cushion development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cysteine-rich with EGF-like domain protein 1
    Names
    cysteine-rich with EGF-like domain protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_017069.1 RefSeqGene

      Range
      5000..16573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031717.3NP_001026887.1  cysteine-rich with EGF-like domain protein 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC018809, BC008720, BM674728
      Consensus CDS
      CCDS33693.1
      UniProtKB/Swiss-Prot
      Q96HD1
      Related
      ENSP00000321856, OTTHUMP00000207640, ENST00000326434, OTTHUMT00000339239
      Conserved Domains (3) summary
      cl00066
      Location:210245
      Blast Score: 77
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam11938
      Location:46143
      Blast Score: 164
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl09941
      Location:305336
      Blast Score: 92
      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 ...
    2. NM_001077415.2NP_001070883.1  cysteine-rich with EGF-like domain protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2)
      Source sequence(s)
      AC018809, AF452623, BF182978, BM674728, DN996843
      Consensus CDS
      CCDS2593.1
      UniProtKB/Swiss-Prot
      Q96HD1
      Related
      ENSP00000393643, OTTHUMP00000207639, ENST00000452070, OTTHUMT00000339238
      Conserved Domains (3) summary
      cl00066
      Location:210245
      Blast Score: 79
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam11938
      Location:46143
      Blast Score: 163
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl09941
      Location:305336
      Blast Score: 92
      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 ...
    3. NM_015513.4NP_056328.2  cysteine-rich with EGF-like domain protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2)
      Source sequence(s)
      AC018809, AL050275, BM674728
      Consensus CDS
      CCDS2593.1
      UniProtKB/Swiss-Prot
      Q96HD1
      Related
      ENSP00000373322, OTTHUMP00000158826, ENST00000383811, OTTHUMT00000250533
      Conserved Domains (3) summary
      cl00066
      Location:210245
      Blast Score: 79
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam11938
      Location:46143
      Blast Score: 163
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl09941
      Location:305336
      Blast Score: 92
      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 ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      9975524..9987097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      9911848..9923428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC018809.5 (34057..45247) None
    genomic CH471055.1 EAW64034.1
      EAW64035.1
      EAW64036.1
      EAW64037.1
      EAW64038.1
      EAW64039.1
      EAW64040.1
      EAW64041.1
      EAW64042.1
      EAW64043.1
    mRNA AF452623.1 AAM75206.1
    mRNA AK314113.1 BAG36806.1
    mRNA AL050275.1 CAB43376.1
    mRNA AY358363.1 AAQ88729.1
    mRNA BC008720.2 AAH08720.1
    mRNA BF182978.1 None
    mRNA BM674728.1 None
    mRNA BX358821.2 None
    mRNA CD368927.1 None
    mRNA CR457380.1 CAG33661.1
    mRNA DA145918.1 None
    mRNA DN996843.1 None
    other-genetic AM393345.1 CAL38223.1
    other-genetic AM393812.1 CAL38687.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HD1.3 GenPept UniProtKB/Swiss-Prot:Q96HD1

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...