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Q96HD1 (CREL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cysteine-rich with EGF-like domain protein 1
Gene names
Name:CRELD1
Synonyms:CIRRIN
ORF Names:UNQ188/PRO214
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length420 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Induction

Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin. Ref.8

Involvement in disease

Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the CRELD family.

Contains 2 EGF-like domains.

Contains 2 FU (furin-like) repeats.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q96HD1-1)

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.
Isoform 2 (identifier: Q96HD1-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Chain30 – 420391Cysteine-rich with EGF-like domain protein 1
PRO_0000042781

Regions

Topological domain30 – 362333Extracellular Potential
Transmembrane363 – 38321Helical; Potential
Topological domain3841Cytoplasmic Potential
Transmembrane385 – 40521Helical; Potential
Topological domain406 – 42015Extracellular Potential
Domain153 – 19341EGF-like 1
Repeat208 – 25649FU 1
Repeat268 – 31548FU 2
Domain305 – 34440EGF-like 2; calcium-binding Potential
Compositional bias3 – 4543Pro-rich

Amino acid modifications

Glycosylation791N-linked (GlcNAc...) Potential
Glycosylation2051N-linked (GlcNAc...) Potential
Disulfide bond155 ↔ 169 By similarity
Disulfide bond163 ↔ 181 By similarity
Disulfide bond183 ↔ 192 By similarity
Disulfide bond309 ↔ 321 By similarity
Disulfide bond314 ↔ 330 By similarity
Disulfide bond332 ↔ 343 By similarity

Natural variations

Alternative sequence350 – 42071ESAGF…FIKGR → GAFPILTDLTPETTRRWKLG SHPHSTYVKMKMQRDEATFP GLYGKQVAKLGSQSRQSDRG TRLIHSQQASSQR in isoform 2.
VSP_016091
Natural variant131M → V. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.7
Corresponds to variant rs279552 [ dbSNP | Ensembl ].
VAR_046653
Natural variant1071R → H in AVSD2 susceptibility; with heterotaxy syndrome. Ref.9
Corresponds to variant rs28941780 [ dbSNP | Ensembl ].
VAR_023764
Natural variant1281P → R.
Corresponds to variant rs2302787 [ dbSNP | Ensembl ].
VAR_046654
Natural variant1621P → A in AVSD2 susceptibility. Ref.10
VAR_023765
Natural variant3111T → I in AVSD2 susceptibility. Ref.9
Corresponds to variant rs28942092 [ dbSNP | Ensembl ].
VAR_023766
Natural variant3291R → C in AVSD2 susceptibility. Ref.9
Corresponds to variant rs28942091 [ dbSNP | Ensembl ].
VAR_023767

Experimental info

Sequence conflict1261E → G in CAB43376. Ref.2
Sequence conflict1531L → P in CAG33661. Ref.5
Sequence conflict1861G → S in BAG36806. Ref.4
Sequence conflict2291C → R in CAG33661. Ref.5
Sequence conflict3361Y → C in CAB43376. Ref.2
Sequence conflict3481I → V in BAG36806. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 14, 2008. Version 3.
Checksum: EEAAD0D143A0D35A

FASTA42045,440
        10         20         30         40         50         60 
MAPWPPKGLV PAMLWGLSLF LNLPGPIWLQ PSPPPQSSPP PQPHPCHTCR GLVDSFNKGL 

        70         80         90        100        110        120 
ERTIRDNFGG GNTAWEEENL SKYKDSETRL VEVLEGVCSK SDFECHRLLE LSEELVESWW 

       130        140        150        160        170        180 
FHKQQEAPDL FQWLCSDSLK LCCPAGTFGP SCLPCPGGTE RPCGGYGQCE GEGTRGGSGH 

       190        200        210        220        230        240 
CDCQAGYGGE ACGQCGLGYF EAERNASHLV CSACFGPCAR CSGPEESNCL QCKKGWALHH 

       250        260        270        280        290        300 
LKCVDIDECG TEGANCGADQ FCVNTEGSYE CRDCAKACLG CMGAGPGRCK KCSPGYQQVG 

       310        320        330        340        350        360 
SKCLDVDECE TEVCPGENKQ CENTEGGYRC ICAEGYKQME GICVKEQIPE SAGFFSEMTE 

       370        380        390        400        410        420 
DELVVLQQMF FGIIICALAT LAAKGDLVFT AIFIGAVAAM TGYWLSERSD RVLEGFIKGR 

« Hide

Isoform 2 [UniParc].

Checksum: 3FC9B9BC52BE6DA1
Show »

FASTA42245,942

References

« Hide 'large scale' references
[1]"Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins."
Rupp P.A., Fouad G.T., Egelston C.A., Reifsteck C.A., Olson S.B., Knosp W.M., Glanville R.W., Thornburg K.L., Robinson S.W., Maslen C.L.
Gene 293:47-57(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT VAL-13.
Tissue: Fibroblast.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-13.
Tissue: Kidney.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-13.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-13.
Tissue: Amygdala.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-13.
[6]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-13.
Tissue: Lung.
[8]"Hyperactivity of the Ero1alpha oxidase elicits endoplasmic reticulum stress but no broad antioxidant response."
Hansen H.G., Schmidt J.D., Soltoft C.L., Ramming T., Geertz-Hansen H.M., Christensen B., Sorensen E.S., Juncker A.S., Appenzeller-Herzog C., Ellgaard L.
J. Biol. Chem. 287:39513-39523(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[9]"Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects."
Robinson S.W., Morris C.D., Goldmuntz E., Reller M.D., Jones M.A., Steiner R.D., Maslen C.L.
Am. J. Hum. Genet. 72:1047-1052(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AVSD2 SUSCEPTIBILITY HIS-107; ILE-311 AND CYS-329.
[10]"Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)."
Zatyka M., Priestley M., Ladusans E.J., Fryer A.E., Mason J., Latif F., Maher E.R.
Clin. Genet. 67:526-528(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AVSD2 SUSCEPTIBILITY ALA-162.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT08724.
RefSeqNP_001026887.1. NM_001031717.3.
NP_001070883.1. NM_001077415.2.
NP_056328.2. NM_015513.4.
UniGeneHs.9383.

3D structure databases

ProteinModelPortalQ96HD1.
SMRQ96HD1. Positions 158-418.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122458. 10 interactions.
IntActQ96HD1. 10 interactions.
MINTMINT-1375344.
STRING9606.ENSP00000295982.

Polymorphism databases

DMDM209572751.

Proteomic databases

PaxDbQ96HD1.
PRIDEQ96HD1.

Protocols and materials databases

DNASU78987.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326434; ENSP00000321856; ENSG00000163703. [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703. [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703. [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703. [Q96HD1-1]
GeneID78987.
KEGGhsa:78987.
UCSCuc003buf.3. human. [Q96HD1-2]
uc003bug.3. human. [Q96HD1-1]

Organism-specific databases

CTD78987.
GeneCardsGC03P009975.
H-InvDBHIX0200522.
HGNCHGNC:14630. CRELD1.
HPAHPA026964.
MIM606217. phenotype.
607170. gene.
neXtProtNX_Q96HD1.
Orphanet1329. Complete atrioventricular canal.
1330. Partial atrioventricular canal.
PharmGKBPA26870.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315654.
HOGENOMHOG000004778.
HOVERGENHBG081344.
OMAEPHPCHT.
PhylomeDBQ96HD1.
TreeFamTF316507.

Gene expression databases

ArrayExpressQ96HD1.
BgeeQ96HD1.
CleanExHS_CRELD1.
GenevestigatorQ96HD1.

Family and domain databases

InterProIPR021852. DUF3456.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
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_N_dom.
[Graphical view]
PfamPF11938. DUF3456. 2 hits.
PF07645. EGF_CA. 2 hits.
[Graphical view]
SMARTSM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
SM00261. FU. 2 hits.
[Graphical view]
SUPFAMSSF57184. SSF57184. 1 hit.
PROSITEPS00010. 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]
ProtoNetSearch...

Other

GeneWikiCRELD1.
GenomeRNAi78987.
NextBio67556.
PROQ96HD1.
SOURCESearch...

Entry information

Entry nameCREL1_HUMAN
AccessionPrimary (citable) accession number: Q96HD1
Secondary accession number(s): A8MX90 expand/collapse secondary AC list , B2RAA9, Q6I9X5, Q8NFT4, Q9Y409
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 14, 2008
Last modified: April 16, 2014
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM