Human Gene CRELD1 (ENST00000383811.8) from GENCODE V44
  Description: Homo sapiens cysteine rich with EGF like domains 1 (CRELD1), transcript variant 2, mRNA. (from RefSeq NM_015513)
RefSeq Summary (NM_015513): 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].
Gencode Transcript: ENST00000383811.8
Gencode Gene: ENSG00000163703.20
Transcript (Including UTRs)
   Position: hg38 chr3:9,933,834-9,945,406 Size: 11,573 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr3:9,934,439-9,944,579 Size: 10,141 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr3:9,933,834-9,945,406)mRNA (may differ from genome)Protein (420 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Cysteine-rich with EGF-like domain protein 1; Flags: Precursor;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
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.
DISEASE: Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2) [MIM:606217]. AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated cleft mitral valve or small defects of the atrial or ventricular septa may go undetected.
SIMILARITY: Belongs to the CRELD family.
SIMILARITY: Contains 2 EGF-like domains.
SIMILARITY: Contains 2 FU (furin-like) repeats.
WEB RESOURCE: Name=GeneReviews; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: CRELD1
Diseases sorted by gene-association score: atrioventricular septal defect 2* (1016), partial atrioventricular canal* (202), atrioventricular septal defect (41), complete atrioventricular canal-tetralogy of fallot syndrome* (18), complete atrioventricular canal-left heart obstruction syndrome* (18), subvalvular aortic stenosis (17), pulmonary subvalvular stenosis (17), complete atrioventricular canal-ventricle hypoplasia syndrome* (14), discrete subaortic stenosis (11), chorioangioma (11), tricuspid valve disease (10), mitral valve insufficiency (9), heart septal defect (9), anomalous left coronary artery from the pulmonary artery (8), hemangioma of intra-abdominal structure (7), total anomalous pulmonary venous return 1 (7), atrial heart septal defect (7), tricuspid valve insufficiency (7), tricuspid atresia (7), ebstein anomaly (6), conotruncal heart malformations (6), pulmonary valve stenosis (6), tricuspid valve stenosis (6), pulmonary valve disease (5), mitral valve stenosis (5), transposition of the great arteries (5), heart disease (3), tetralogy of fallot (1), chromosomal disease (1), aortic valve disease 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.47 RPKM in Brain - Cerebellum
Total median expression: 969.44 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -197.80605-0.327 Picture PostScript Text
3' UTR -278.70827-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021852 - DUF3456
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR002049 - EGF_laminin
IPR006212 - Furin_repeat
IPR009030 - Growth_fac_rcpt

Pfam Domains:
PF11938 - TLR4 regulator and MIR-interacting MSAP
PF07645 - Calcium-binding EGF domain

ModBase Predicted Comparative 3D Structure on Q96HD1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding

Biological Process:
GO:0003197 endocardial cushion development
GO:0003279 cardiac septum development

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  LF207344 - JP 2014500723-A/14847: Polycomb-Associated Non-Coding RNAs.
MA442921 - JP 2018138019-A/14847: Polycomb-Associated Non-Coding RNAs.
AL050275 - Homo sapiens mRNA; cDNA DKFZp566D213 (from clone DKFZp566D213).
BC008720 - Homo sapiens cysteine-rich with EGF-like domains 1, mRNA (cDNA clone MGC:8447 IMAGE:2821362), complete cds.
AY358363 - Homo sapiens clone DNA32286 CRELD1 (UNQ188) mRNA, complete cds.
AK314113 - Homo sapiens cDNA, FLJ94803, highly similar to Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 2, mRNA.
JD141363 - Sequence 122387 from Patent EP1572962.
LF365129 - JP 2014500723-A/172632: Polycomb-Associated Non-Coding RNAs.
MA600706 - JP 2018138019-A/172632: Polycomb-Associated Non-Coding RNAs.
AF452623 - Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1) mRNA, complete cds.
JD166536 - Sequence 147560 from Patent EP1572962.
JD065917 - Sequence 46941 from Patent EP1572962.
JD209293 - Sequence 190317 from Patent EP1572962.
JD390838 - Sequence 371862 from Patent EP1572962.
JD133574 - Sequence 114598 from Patent EP1572962.
JD057261 - Sequence 38285 from Patent EP1572962.
JD392059 - Sequence 373083 from Patent EP1572962.
JD132496 - Sequence 113520 from Patent EP1572962.
JD417995 - Sequence 399019 from Patent EP1572962.
JD524157 - Sequence 505181 from Patent EP1572962.
JD146916 - Sequence 127940 from Patent EP1572962.
JD353508 - Sequence 334532 from Patent EP1572962.
CR457380 - Homo sapiens full open reading frame cDNA clone RZPDo834A0314D for gene CRELD1, cysteine-rich with EGF-like domains 1; complete cds, incl. stopcodon.
AB528111 - Synthetic construct DNA, clone: pF1KE0430, Homo sapiens CRELD1 gene for cysteine-rich with EGF-like domains 1, without stop codon, in Flexi system.
AM393345 - Synthetic construct Homo sapiens clone IMAGE:100001791 for hypothetical protein (CRELD1 gene).
AM393812 - Synthetic construct Homo sapiens clone IMAGE:100001786 for hypothetical protein (CRELD1 gene).
LF365131 - JP 2014500723-A/172634: Polycomb-Associated Non-Coding RNAs.
MA600708 - JP 2018138019-A/172634: Polycomb-Associated Non-Coding RNAs.
LF365134 - JP 2014500723-A/172637: Polycomb-Associated Non-Coding RNAs.
MA600711 - JP 2018138019-A/172637: Polycomb-Associated Non-Coding RNAs.
LF365135 - JP 2014500723-A/172638: Polycomb-Associated Non-Coding RNAs.
MA600712 - JP 2018138019-A/172638: Polycomb-Associated Non-Coding RNAs.
LF207346 - JP 2014500723-A/14849: Polycomb-Associated Non-Coding RNAs.
MA442923 - JP 2018138019-A/14849: Polycomb-Associated Non-Coding RNAs.
LF365137 - JP 2014500723-A/172640: Polycomb-Associated Non-Coding RNAs.
MA600714 - JP 2018138019-A/172640: Polycomb-Associated Non-Coding RNAs.
JD218264 - Sequence 199288 from Patent EP1572962.
JD295177 - Sequence 276201 from Patent EP1572962.
JD322648 - Sequence 303672 from Patent EP1572962.
JD335510 - Sequence 316534 from Patent EP1572962.
LF365139 - JP 2014500723-A/172642: Polycomb-Associated Non-Coding RNAs.
MA600716 - JP 2018138019-A/172642: Polycomb-Associated Non-Coding RNAs.
JD207744 - Sequence 188768 from Patent EP1572962.
JD183376 - Sequence 164400 from Patent EP1572962.
LF365140 - JP 2014500723-A/172643: Polycomb-Associated Non-Coding RNAs.
MA600717 - JP 2018138019-A/172643: Polycomb-Associated Non-Coding RNAs.
JD385417 - Sequence 366441 from Patent EP1572962.
JD122909 - Sequence 103933 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MX90, B2RAA9, CIRRIN, CREL1_HUMAN, ENST00000383811.1, ENST00000383811.2, ENST00000383811.3, ENST00000383811.4, ENST00000383811.5, ENST00000383811.6, ENST00000383811.7, NM_015513, Q6I9X5, Q8NFT4, Q96HD1, Q9Y409, uc003buh.1, uc003buh.2, uc003buh.3, uc003buh.4, UNQ188/PRO214
UCSC ID: ENST00000383811.8
RefSeq Accession: NM_015513
Protein: Q96HD1 (aka CREL1_HUMAN)
CCDS: CCDS2593.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.