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

Gene ID: 78987, updated on 1-Jun-2020

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 Ensembl:ENSG00000288550 MIM:607170
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]
Expression
Ubiquitous expression in thyroid (RPKM 17.8), heart (RPKM 15.1) and 25 other tissues See more
Orthologs

Genomic context

See CRELD1 in Genome Data Viewer
Location:
3p25.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9933788..9945406)
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 3p25 PRRT3 Alu-mediated recombination region 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 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

Homology

Clone Names

  • DKFZp566D213

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide isomerase activity 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
collagen-containing extracellular matrix HDA PubMed 
integral component of 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_056328.3
XP_011532410.1

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
    5001..16573
    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
    Related
    ENSP00000321856.5, ENST00000326434.9
  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
    Related
    ENSP00000393643.1, ENST00000452070.5
  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
    Related
    ENSP00000380355.3, ENST00000397170.7
  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
  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
  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
  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
  8. 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
    Related
    ENSP00000373322.3, ENST00000383811.8

RNA

  1. NR_164475.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018809
    Related
    ENST00000673737.1
  2. NR_164476.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018809
    Related
    ENST00000674067.1
  3. NR_164477.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018809

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    9933788..9945406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534108.1XP_011532410.1  protein disulfide isomerase CRELD1 isoform X1

    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. XR_002959584.1 RNA Sequence

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