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

    Gene ID: 78987, updated on 4-Apr-2024

    Summary

    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 MIM:607170; AllianceGenome:HGNC:14630
    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; JELANS
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.8), heart (RPKM 15.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    3p25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9933834..9945406)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9925824..9937392)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9975518..9987090)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9944736-9945405 Neighboring gene interleukin 17 receptor E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9958035-9958574 Neighboring gene RNA, U6 small nuclear 882, pseudogene Neighboring gene interleukin 17 receptor C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9970047-9970546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9980935-9981732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9987356-9988018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9988681-9989342 Neighboring gene 3p25 PRRT3 Alu-mediated recombination region Neighboring gene PRRT3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14052 Neighboring gene proline rich transmembrane protein 3 Neighboring gene ER membrane protein complex subunit 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:10018113-10019312 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10028343-10028990 Neighboring gene EMC3 antisense RNA 1 Neighboring gene FANCD2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp566D213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein disulfide isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cardiac septum development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endocardial cushion development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein disulfide isomerase CRELD1
    NP_001026887.2
    NP_001070883.2
    NP_001361245.1
    NP_001361246.1
    NP_001361247.1
    NP_001361248.1
    NP_001361249.1
    NP_001397642.1
    NP_056328.3
    XP_011532410.1
    XP_047304853.1
    XP_047304854.1
    XP_047304856.1
    XP_054203808.1
    XP_054203809.1
    XP_054203810.1
    XP_054203811.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_017069.2 RefSeqGene

      Range
      5002..16574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031717.4NP_001026887.2  protein disulfide isomerase CRELD1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS33693.1
      UniProtKB/TrEMBL
      A0A804HJB9
      Related
      ENSP00000321856.5, ENST00000326434.9
      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_001077415.3NP_001070883.2  protein disulfide isomerase CRELD1 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. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS2593.1
      UniProtKB/Swiss-Prot
      A8MX90, B2RAA9, Q6I9X5, Q8NFT4, Q96HD1, Q9Y409
      UniProtKB/TrEMBL
      A0A804HKD9
      Related
      ENSP00000393643.2, ENST00000452070.6
      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_001374316.1NP_001361245.1  protein disulfide isomerase CRELD1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS2593.1
      UniProtKB/Swiss-Prot
      A8MX90, B2RAA9, Q6I9X5, Q8NFT4, Q96HD1, Q9Y409
      UniProtKB/TrEMBL
      A0A804HKD9
      Related
      ENSP00000507127.1, ENST00000684493.1
      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 ...
    4. NM_001374317.1NP_001361246.1  protein disulfide isomerase CRELD1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform 3.
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS93207.1
      UniProtKB/TrEMBL
      A0A804HJB9, A0A804HJJ0
      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 ...
    5. NM_001374318.1NP_001361247.1  protein disulfide isomerase CRELD1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform 3.
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS93207.1
      UniProtKB/TrEMBL
      A0A804HJB9, A0A804HJJ0
      Related
      ENSP00000507522.1, ENST00000684181.1
      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 ...
    6. NM_001374319.1NP_001361248.1  protein disulfide isomerase CRELD1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform 4.
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS93208.1
      UniProtKB/TrEMBL
      A0A669KAV0, A0A804HKD9
      Related
      ENSP00000500961.2, ENST00000673935.2
      Conserved Domains (3) summary
      smart00179
      Location:277308
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210246
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
    7. NM_001374320.1NP_001361249.1  protein disulfide isomerase CRELD1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform 4.
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS93208.1
      UniProtKB/TrEMBL
      A0A669KAV0, A0A804HKD9
      Conserved Domains (3) summary
      smart00179
      Location:277308
      EGF_CA; Calcium-binding EGF-like domain
      smart00261
      Location:210246
      FU; Furin-like repeats
      pfam11938
      Location:46100
      DUF3456; TLR4 regulator and MIR-interacting MSAP
    8. NM_001410713.1NP_001397642.1  protein disulfide isomerase CRELD1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS93206.1
      UniProtKB/TrEMBL
      A0A804HKP7
      Related
      ENSP00000508209.1, ENST00000682907.1
    9. NM_015513.6NP_056328.3  protein disulfide isomerase CRELD1 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. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC018809
      Consensus CDS
      CCDS2593.1
      UniProtKB/Swiss-Prot
      A8MX90, B2RAA9, Q6I9X5, Q8NFT4, Q96HD1, Q9Y409
      UniProtKB/TrEMBL
      A0A804HKD9
      Related
      ENSP00000373322.3, ENST00000383811.8
      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 ...

    RNA

    1. NR_164475.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018809
      Related
      ENST00000674067.2
    2. NR_164476.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018809
      Related
      ENST00000682397.1
    3. NR_164477.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018809

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9933834..9945406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534108.2XP_011532410.1  protein disulfide isomerase CRELD1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB9, A0A804HJJ0
      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. XM_047448898.1XP_047304854.1  protein disulfide isomerase CRELD1 isoform X3

      Related
      ENSP00000507437.1, ENST00000683982.1
    3. XM_047448897.1XP_047304853.1  protein disulfide isomerase CRELD1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKP7
      Related
      ENSP00000507251.1, ENST00000682642.1
    4. XM_047448900.1XP_047304856.1  protein disulfide isomerase CRELD1 isoform X4

      UniProtKB/TrEMBL
      A0A669KAV2, A0A669KBB3
      Related
      ENSP00000507258.1, ENST00000683547.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9925824..9937392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347834.1XP_054203809.1  protein disulfide isomerase CRELD1 isoform X2

    2. XM_054347835.1XP_054203810.1  protein disulfide isomerase CRELD1 isoform X3

    3. XM_054347833.1XP_054203808.1  protein disulfide isomerase CRELD1 isoform X1

    4. XM_054347836.1XP_054203811.1  protein disulfide isomerase CRELD1 isoform X4