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    CRELD1 cysteine rich with EGF like domains 1 [ Homo sapiens (human) ]

    Gene ID: 78987, updated on 4-Sep-2016
    Official Symbol
    CRELD1provided by HGNC
    Official Full Name
    cysteine rich with EGF like domains 1provided by HGNC
    Primary source
    HGNC:HGNC:14630
    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
    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]
    Orthologs
    Location:
    3p25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (9933788..9945413)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9975478..9987097)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor E Neighboring gene RNA, U6 small nuclear 882, pseudogene Neighboring gene interleukin 17 receptor C Neighboring gene PRRT3 antisense RNA 1 Neighboring gene proline rich transmembrane protein 3 Neighboring gene ER membrane protein complex subunit 3 Neighboring gene EMC3 antisense RNA 1 Neighboring gene Fanconi anemia complementation group D2 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp566D213

    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 component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cysteine-rich with EGF-like domain protein 1

    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
      5001..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

      See identical proteins and their annotated locations for NP_001026887.1

      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 (4) summary
      smart00179
      Location:305336
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210245
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245272
      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

      See identical proteins and their annotated locations for NP_001070883.1

      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
      UniProtKB/TrEMBL
      A0A024R2G1
      Related
      ENSP00000393643, OTTHUMP00000207639, ENST00000452070, OTTHUMT00000339238
      Conserved Domains (4) summary
      smart00179
      Location:305336
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210245
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245272
      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

      See identical proteins and their annotated locations for NP_056328.2

      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
      UniProtKB/TrEMBL
      A0A024R2G1
      Related
      ENSP00000373322, OTTHUMP00000158826, ENST00000383811, OTTHUMT00000250533
      Conserved Domains (4) summary
      smart00179
      Location:305336
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210245
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245272
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      9933788..9945413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534108.1XP_011532410.1  

      Conserved Domains (4) summary
      smart00261
      Location:210245
      FU; Furin-like repeats
      cd00054
      Location:305336
      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 ...
      pfam11938
      Location:46143
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245272
      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. XM_017007175.1XP_016862664.1  

      Related
      ENSP00000380355, OTTHUMP00000207638, ENST00000397170, OTTHUMT00000339237
      Conserved Domains (4) summary
      smart00179
      Location:305336
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210245
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl21504
      Location:245272
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      9925647..9937249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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