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Q9BU40 (CRDL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chordin-like protein 1
Alternative name(s):
Neuralin-1
Neurogenesin-1
Ventroptin
Gene names
Name:CHRDL1
Synonyms:NRLN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length450 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation By similarity. May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development. Ref.1 Ref.6

Subcellular location

Secreted Potential.

Tissue specificity

Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes. Ref.1 Ref.6

Induction

By hypoxia in retinal pericytes. Ref.1

Involvement in disease

Megalocornea 1, X-linked (MGC1) [MIM:309300]: An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 3 VWFC domains.

Sequence caution

The sequence AAH02909.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAU25841.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAF85795.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Osteogenesis
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainRepeat
Signal
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processBMP signaling pathway

Traceable author statement. Source: Reactome

cell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

compound eye development

Inferred from mutant phenotype Ref.6. Source: UniProtKB

eye development

Inferred from mutant phenotype Ref.6. Source: UniProtKB

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

ossification

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentextracellular region

Traceable author statement. Source: Reactome

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BU40-1)

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: Q9BU40-2)

The sequence of this isoform differs from the canonical sequence as follows:
     95-95: D → ED
     323-323: E → EE
Isoform 3 (identifier: Q9BU40-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRKKWKM
     95-173: Missing.
     323-323: E → EE
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BU40-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRKKWKM
     95-95: D → ED
     323-323: E → EE
Isoform 5 (identifier: Q9BU40-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRKKWKM
     323-323: E → EE
Note: No experimental confirmation available.
Isoform 6 (identifier: Q9BU40-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRKKWKM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 450429Chordin-like protein 1
PRO_0000005368

Regions

Domain29 – 9466VWFC 1
Domain107 – 17367VWFC 2
Domain252 – 31766VWFC 3
Motif173 – 1753Cell attachment site Potential

Amino acid modifications

Glycosylation1121N-linked (GlcNAc...) Potential
Glycosylation2851N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MRKKWKM in isoform 3, isoform 4, isoform 5 and isoform 6.
VSP_043260
Alternative sequence95 – 17379Missing in isoform 3.
VSP_043261
Alternative sequence951D → ED in isoform 2 and isoform 4.
VSP_036469
Alternative sequence3231E → EE in isoform 2, isoform 3, isoform 4 and isoform 5.
VSP_036470
Natural variant2541C → F in MGC1. Ref.6
VAR_068175

Sequences

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

Last modified June 1, 2001. Version 1.
Checksum: D5F39AB9E2EE3E71

FASTA45051,168
        10         20         30         40         50         60 
MGGMKYIFSL LFFLLLEGGK TEQVKHSETY CMFQDKKYRV GERWHPYLEP YGLVYCVNCI 

        70         80         90        100        110        120 
CSENGNVLCS RVRCPNVHCL SPVHIPHLCC PRCPDSLPPV NNKVTSKSCE YNGTTYQHGE 

       130        140        150        160        170        180 
LFVAEGLFQN RQPNQCTQCS CSEGNVYCGL KTCPKLTCAF PVSVPDSCCR VCRGDGELSW 

       190        200        210        220        230        240 
EHSDGDIFRQ PANREARHSY HRSHYDPPPS RQAGGLSRFP GARSHRGALM DSQQASGTIV 

       250        260        270        280        290        300 
QIVINNKHKH GQVCVSNGKT YSHGESWHPN LRAFGIVECV LCTCNVTKQE CKKIHCPNRY 

       310        320        330        340        350        360 
PCKYPQKIDG KCCKVCPGKK AKELPGQSFD NKGYFCGEET MPVYESVFME DGETTRKIAL 

       370        380        390        400        410        420 
ETERPPQVEV HVWTIRKGIL QHFHIEKISK RMFEELPHFK LVTRTTLSQW KIFTEGEAQI 

       430        440        450 
SQMCSSRVCR TELEDLVKVL YLERSEKGHC 

« Hide

Isoform 2 [UniParc].

Checksum: E214F9A68D8EE072
Show »

FASTA45251,426
Isoform 3 [UniParc].

Checksum: EA581757BD2A66F2
Show »

FASTA37843,516
Isoform 4 [UniParc].

Checksum: 2E6FD80F2B44960F
Show »

FASTA45852,284
Isoform 5 [UniParc].

Checksum: E306E04B501FE8D1
Show »

FASTA45752,155
Isoform 6 [UniParc].

Checksum: 345A3C739493A545
Show »

FASTA45652,026

References

« Hide 'large scale' references
[1]"Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis."
Kane R., Godson C., O'Brien C.
Mol. Vis. 14:1138-1148(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, INDUCTION.
[2]"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] (ISOFORMS 2; 3 AND 5).
Tissue: Astrocyte, Brain and Uterus.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 1).
Tissue: Lung.
[6]"X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development."
Webb T.R., Matarin M., Gardner J.C., Kelberman D., Hassan H., Ang W., Michaelides M., Ruddle J.B., Pennell C.E., Yazar S., Khor C.C., Aung T., Yogarajah M., Robson A.G., Holder G.E., Cheetham M.E., Traboulsi E.I., Moore A.T. expand/collapse author list , Sowden J.C., Sisodiya S.M., Mackey D.A., Tuft S.J., Hardcastle A.J.
Am. J. Hum. Genet. 90:247-259(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANT MGC1 PHE-254.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY608914 mRNA. Translation: AAU25841.1. Different initiation.
AK293106 mRNA. Translation: BAF85795.1. Different initiation.
AK297563 mRNA. Translation: BAG59955.1.
AK312270 mRNA. No translation available.
AL049176, AL591489 Genomic DNA. Translation: CAI42037.1.
AL591489, AL049176 Genomic DNA. Translation: CAI41336.1.
AL591489, AL049176 Genomic DNA. Translation: CAI41337.1.
AL049176, AL591489 Genomic DNA. Translation: CAI42038.1.
CH471120 Genomic DNA. Translation: EAX02656.1.
CH471120 Genomic DNA. Translation: EAX02657.1.
BC002909 mRNA. Translation: AAH02909.2. Different initiation.
CCDSCCDS14553.1. [Q9BU40-6]
CCDS48148.2. [Q9BU40-3]
CCDS48149.1. [Q9BU40-4]
CCDS48150.1. [Q9BU40-5]
RefSeqNP_001137453.1. NM_001143981.1. [Q9BU40-4]
NP_001137454.1. NM_001143982.1. [Q9BU40-5]
NP_001137455.2. NM_001143983.2. [Q9BU40-3]
NP_660277.2. NM_145234.3. [Q9BU40-6]
XP_005262278.1. XM_005262221.1. [Q9BU40-4]
XP_005262279.1. XM_005262222.2. [Q9BU40-5]
UniGeneHs.496587.

3D structure databases

ProteinModelPortalQ9BU40.
SMRQ9BU40. Positions 28-98, 103-174, 250-323.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9BU40. 2 interactions.
MINTMINT-8201750.
STRING9606.ENSP00000413419.

PTM databases

PhosphoSiteQ9BU40.

Polymorphism databases

DMDM27805644.

Proteomic databases

PaxDbQ9BU40.
PRIDEQ9BU40.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000218054; ENSP00000218054; ENSG00000101938. [Q9BU40-6]
ENST00000372042; ENSP00000361112; ENSG00000101938. [Q9BU40-4]
ENST00000372045; ENSP00000361115; ENSG00000101938. [Q9BU40-1]
ENST00000394797; ENSP00000378276; ENSG00000101938. [Q9BU40-6]
ENST00000444321; ENSP00000399739; ENSG00000101938. [Q9BU40-5]
ENST00000482160; ENSP00000418443; ENSG00000101938. [Q9BU40-3]
GeneID91851.
KEGGhsa:91851.
UCSCuc004eou.4. human.
uc004eov.3. human. [Q9BU40-2]
uc004eow.3. human. [Q9BU40-1]
uc011mss.2. human. [Q9BU40-3]

Organism-specific databases

CTD91851.
GeneCardsGC0XM109917.
HGNCHGNC:29861. CHRDL1.
HPAHPA000226.
HPA000250.
MIM300350. gene.
309300. phenotype.
neXtProtNX_Q9BU40.
Orphanet91489. Isolated congenital megalocornea.
PharmGKBPA134933380.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147797.
HOGENOMHOG000049211.
HOVERGENHBG051113.
InParanoidQ9BU40.
OMACPRCPED.
OrthoDBEOG7XH6S0.
PhylomeDBQ9BU40.
TreeFamTF106451.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ9BU40.
BgeeQ9BU40.
CleanExHS_CHRDL1.
GenevestigatorQ9BU40.

Family and domain databases

InterProIPR001007. VWF_C.
[Graphical view]
PfamPF00093. VWC. 3 hits.
[Graphical view]
SMARTSM00214. VWC. 3 hits.
[Graphical view]
PROSITEPS01208. VWFC_1. 3 hits.
PS50184. VWFC_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCHRDL1. human.
GenomeRNAi91851.
NextBio77488.
PROQ9BU40.
SOURCESearch...

Entry information

Entry nameCRDL1_HUMAN
AccessionPrimary (citable) accession number: Q9BU40
Secondary accession number(s): B1AKD0 expand/collapse secondary AC list , B4DMP3, D3DUY6, E9PGS5, Q539E4, Q9Y3H7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 106 of the entry and version 1 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 X

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