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Protein

Cysteine-rich with EGF-like domain protein 1

Gene

CRELD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • cardiac septum development Source: BHF-UCL
  • endocardial cushion development Source: BHF-UCL
Complete GO annotation...

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine-rich with EGF-like domain protein 1
Gene namesi
Name:CRELD1
Synonyms:CIRRIN
ORF Names:UNQ188/PRO214
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:14630. CRELD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 362ExtracellularSequence analysisAdd BLAST333
Transmembranei363 – 383HelicalSequence analysisAdd BLAST21
Topological domaini384CytoplasmicSequence analysis1
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 420ExtracellularSequence analysisAdd BLAST15

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Atrioventricular septal defect 2 (AVSD2)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
See also OMIM:606217
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023764107R → H in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28941780dbSNPEnsembl.1
Natural variantiVAR_023765162P → A in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121912626dbSNPEnsembl.1
Natural variantiVAR_023766311T → I in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28942092dbSNPEnsembl.1
Natural variantiVAR_023767329R → C in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28942091dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi78987.
MalaCardsiCRELD1.
MIMi606217. phenotype.
OpenTargetsiENSG00000163703.
Orphaneti99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
1330. Partial atrioventricular canal.
PharmGKBiPA26870.

Polymorphism and mutation databases

BioMutaiCRELD1.
DMDMi209572751.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000004278130 – 420Cysteine-rich with EGF-like domain protein 1Add BLAST391

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi155 ↔ 169PROSITE-ProRule annotation
Disulfide bondi163 ↔ 181PROSITE-ProRule annotation
Disulfide bondi183 ↔ 192PROSITE-ProRule annotation
Glycosylationi205N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi309 ↔ 321PROSITE-ProRule annotation
Disulfide bondi314 ↔ 330PROSITE-ProRule annotation
Disulfide bondi332 ↔ 343PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ96HD1.
MaxQBiQ96HD1.
PeptideAtlasiQ96HD1.
PRIDEiQ96HD1.

PTM databases

iPTMnetiQ96HD1.
PhosphoSitePlusiQ96HD1.

Expressioni

Tissue specificityi

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.1 Publication

Inductioni

Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.1 Publication

Gene expression databases

BgeeiENSG00000163703.
CleanExiHS_CRELD1.
ExpressionAtlasiQ96HD1. baseline and differential.
GenevisibleiQ96HD1. HS.

Organism-specific databases

HPAiHPA026964.

Interactioni

Protein-protein interaction databases

BioGridi122458. 19 interactors.
IntActiQ96HD1. 15 interactors.
MINTiMINT-1375344.

Structurei

3D structure databases

ProteinModelPortaliQ96HD1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini153 – 193EGF-like 1PROSITE-ProRule annotationAdd BLAST41
Repeati208 – 256FU 1Add BLAST49
Repeati268 – 315FU 2Add BLAST48
Domaini305 – 344EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 45Pro-richAdd BLAST43

Sequence similaritiesi

Belongs to the CRELD family.Curated
Contains 2 EGF-like domains.PROSITE-ProRule annotation
Contains 2 FU (furin-like) repeats.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00680000100014.
HOGENOMiHOG000004778.
HOVERGENiHBG081344.
InParanoidiQ96HD1.
OMAiEPHPCHT.
OrthoDBiEOG091G09AA.
PhylomeDBiQ96HD1.
TreeFamiTF316507.

Family and domain databases

InterProiIPR021852. DUF3456.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_.
IPR002049. Laminin_EGF.
[Graphical view]
PfamiPF11938. DUF3456. 1 hit.
PF07645. EGF_CA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 2 hits.
SM00261. FU. 2 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q96HD1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAPWPPKGLV PAMLWGLSLF LNLPGPIWLQ PSPPPQSSPP PQPHPCHTCR
60 70 80 90 100
GLVDSFNKGL ERTIRDNFGG GNTAWEEENL SKYKDSETRL VEVLEGVCSK
110 120 130 140 150
SDFECHRLLE LSEELVESWW FHKQQEAPDL FQWLCSDSLK LCCPAGTFGP
160 170 180 190 200
SCLPCPGGTE RPCGGYGQCE GEGTRGGSGH CDCQAGYGGE ACGQCGLGYF
210 220 230 240 250
EAERNASHLV CSACFGPCAR CSGPEESNCL QCKKGWALHH LKCVDIDECG
260 270 280 290 300
TEGANCGADQ FCVNTEGSYE CRDCAKACLG CMGAGPGRCK KCSPGYQQVG
310 320 330 340 350
SKCLDVDECE TEVCPGENKQ CENTEGGYRC ICAEGYKQME GICVKEQIPE
360 370 380 390 400
SAGFFSEMTE DELVVLQQMF FGIIICALAT LAAKGDLVFT AIFIGAVAAM
410 420
TGYWLSERSD RVLEGFIKGR
Length:420
Mass (Da):45,440
Last modified:October 14, 2008 - v3
Checksum:iEEAAD0D143A0D35A
GO
Isoform 2 (identifier: Q96HD1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-420: ESAGFFSEMT...RVLEGFIKGR → GAFPILTDLT...IHSQQASSQR

Show »
Length:422
Mass (Da):45,942
Checksum:i3FC9B9BC52BE6DA1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti126E → G in CAB43376 (PubMed:11230166).Curated1
Sequence conflicti153L → P in CAG33661 (Ref. 5) Curated1
Sequence conflicti186G → S in BAG36806 (PubMed:14702039).Curated1
Sequence conflicti229C → R in CAG33661 (Ref. 5) Curated1
Sequence conflicti336Y → C in CAB43376 (PubMed:11230166).Curated1
Sequence conflicti348I → V in BAG36806 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04665313M → V.6 PublicationsCorresponds to variant rs279552dbSNPEnsembl.1
Natural variantiVAR_023764107R → H in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28941780dbSNPEnsembl.1
Natural variantiVAR_046654128P → R.Corresponds to variant rs2302787dbSNPEnsembl.1
Natural variantiVAR_023765162P → A in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121912626dbSNPEnsembl.1
Natural variantiVAR_023766311T → I in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28942092dbSNPEnsembl.1
Natural variantiVAR_023767329R → C in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant rs28942091dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016091350 – 420ESAGF…FIKGR → GAFPILTDLTPETTRRWKLG SHPHSTYVKMKMQRDEATFP GLYGKQVAKLGSQSRQSDRG TRLIHSQQASSQR in isoform 2. 2 PublicationsAdd BLAST71

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF452623 mRNA. Translation: AAM75206.1.
AL050275 mRNA. Translation: CAB43376.1.
AY358363 mRNA. Translation: AAQ88729.1.
AK314113 mRNA. Translation: BAG36806.1.
CR457380 mRNA. Translation: CAG33661.1.
AC018809 Genomic DNA. No translation available.
BC008720 mRNA. Translation: AAH08720.1.
CCDSiCCDS2593.1. [Q96HD1-1]
CCDS33693.1. [Q96HD1-2]
PIRiT08724.
RefSeqiNP_001026887.1. NM_001031717.3.
NP_001070883.1. NM_001077415.2.
NP_056328.2. NM_015513.4.
XP_016862664.1. XM_017007175.1. [Q96HD1-1]
UniGeneiHs.9383.

Genome annotation databases

EnsembliENST00000326434; ENSP00000321856; ENSG00000163703. [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703. [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703. [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703. [Q96HD1-1]
GeneIDi78987.
KEGGihsa:78987.
UCSCiuc003buf.4. human. [Q96HD1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF452623 mRNA. Translation: AAM75206.1.
AL050275 mRNA. Translation: CAB43376.1.
AY358363 mRNA. Translation: AAQ88729.1.
AK314113 mRNA. Translation: BAG36806.1.
CR457380 mRNA. Translation: CAG33661.1.
AC018809 Genomic DNA. No translation available.
BC008720 mRNA. Translation: AAH08720.1.
CCDSiCCDS2593.1. [Q96HD1-1]
CCDS33693.1. [Q96HD1-2]
PIRiT08724.
RefSeqiNP_001026887.1. NM_001031717.3.
NP_001070883.1. NM_001077415.2.
NP_056328.2. NM_015513.4.
XP_016862664.1. XM_017007175.1. [Q96HD1-1]
UniGeneiHs.9383.

3D structure databases

ProteinModelPortaliQ96HD1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122458. 19 interactors.
IntActiQ96HD1. 15 interactors.
MINTiMINT-1375344.

PTM databases

iPTMnetiQ96HD1.
PhosphoSitePlusiQ96HD1.

Polymorphism and mutation databases

BioMutaiCRELD1.
DMDMi209572751.

Proteomic databases

EPDiQ96HD1.
MaxQBiQ96HD1.
PeptideAtlasiQ96HD1.
PRIDEiQ96HD1.

Protocols and materials databases

DNASUi78987.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326434; ENSP00000321856; ENSG00000163703. [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703. [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703. [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703. [Q96HD1-1]
GeneIDi78987.
KEGGihsa:78987.
UCSCiuc003buf.4. human. [Q96HD1-1]

Organism-specific databases

CTDi78987.
DisGeNETi78987.
GeneCardsiCRELD1.
H-InvDBHIX0200522.
HGNCiHGNC:14630. CRELD1.
HPAiHPA026964.
MalaCardsiCRELD1.
MIMi606217. phenotype.
607170. gene.
neXtProtiNX_Q96HD1.
OpenTargetsiENSG00000163703.
Orphaneti99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
1330. Partial atrioventricular canal.
PharmGKBiPA26870.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00680000100014.
HOGENOMiHOG000004778.
HOVERGENiHBG081344.
InParanoidiQ96HD1.
OMAiEPHPCHT.
OrthoDBiEOG091G09AA.
PhylomeDBiQ96HD1.
TreeFamiTF316507.

Miscellaneous databases

GeneWikiiCRELD1.
GenomeRNAii78987.
PROiQ96HD1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163703.
CleanExiHS_CRELD1.
ExpressionAtlasiQ96HD1. baseline and differential.
GenevisibleiQ96HD1. HS.

Family and domain databases

InterProiIPR021852. DUF3456.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_.
IPR002049. Laminin_EGF.
[Graphical view]
PfamiPF11938. DUF3456. 1 hit.
PF07645. EGF_CA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 2 hits.
SM00261. FU. 2 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCREL1_HUMAN
AccessioniPrimary (citable) accession number: Q96HD1
Secondary accession number(s): A8MX90
, B2RAA9, Q6I9X5, Q8NFT4, Q9Y409
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 14, 2008
Last modified: November 2, 2016
This is version 135 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.