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Q9H2X0

- CHRD_HUMAN

UniProt

Q9H2X0 - CHRD_HUMAN

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Protein

Chordin

Gene

CHRD

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

Functioni

Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity).By similarity

GO - Molecular functioni

  1. cytokine binding Source: BHF-UCL
  2. heparin binding Source: Ensembl

GO - Biological processi

  1. BMP signaling pathway involved in spinal cord dorsal/ventral patterning Source: BHF-UCL
  2. floor plate development Source: BHF-UCL
  3. forebrain development Source: Ensembl
  4. gastrulation with mouth forming second Source: Ensembl
  5. mesoderm formation Source: Ensembl
  6. negative regulation of BMP signaling pathway Source: BHF-UCL
  7. negative regulation of cell migration Source: BHF-UCL
  8. negative regulation of osteoblast differentiation Source: BHF-UCL
  9. osteoblast differentiation Source: Ensembl
  10. positive regulation of cell adhesion Source: BHF-UCL
  11. positive regulation of mesenchymal cell proliferation Source: BHF-UCL
  12. skeletal system development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Chordin
Gene namesi
Name:CHRD
ORF Names:UNQ217/PRO243
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:1949. CHRD.

Subcellular locationi

Secreted By similarity

GO - Cellular componenti

  1. extracellular space Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26482.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 955929ChordinPRO_0000005364Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi217 – 2171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi351 – 3511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi365 – 3651N-linked (GlcNAc...)Sequence Analysis
Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Cleaved by tolloid proteases; cleavage participates in dorsoventral patterning during early development.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H2X0.
PRIDEiQ9H2X0.

PTM databases

PhosphoSiteiQ9H2X0.

Miscellaneous databases

PMAP-CutDBQ9H2X0.

Expressioni

Tissue specificityi

Expressed at the highest level in liver.

Gene expression databases

BgeeiQ9H2X0.
ExpressionAtlasiQ9H2X0. baseline and differential.
GenevestigatoriQ9H2X0.

Organism-specific databases

HPAiCAB020705.
HPA035827.

Interactioni

Subunit structurei

Interacts with TWSG1 and/or BMP4.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
SMAD3P840222EBI-947551,EBI-347161

Protein-protein interaction databases

BioGridi114198. 8 interactions.
DIPiDIP-48857N.
IntActiQ9H2X0. 11 interactions.
MINTiMINT-2817631.

Structurei

3D structure databases

ProteinModelPortaliQ9H2X0.
SMRiQ9H2X0. Positions 46-131, 700-766, 780-855, 867-937.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 12678VWFC 1PROSITE-ProRule annotationAdd
BLAST
Domaini168 – 277110CHRD 1PROSITE-ProRule annotationAdd
BLAST
Domaini279 – 402124CHRD 2PROSITE-ProRule annotationAdd
BLAST
Domaini403 – 524122CHRD 3PROSITE-ProRule annotationAdd
BLAST
Domaini530 – 650121CHRD 4PROSITE-ProRule annotationAdd
BLAST
Domaini703 – 76361VWFC 2PROSITE-ProRule annotationAdd
BLAST
Domaini784 – 85067VWFC 3PROSITE-ProRule annotationAdd
BLAST
Domaini872 – 93261VWFC 4PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the chordin family.Curated
Contains 4 CHRD domains.PROSITE-ProRule annotation
Contains 4 VWFC domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG85639.
GeneTreeiENSGT00730000110792.
HOVERGENiHBG005330.
InParanoidiQ9H2X0.
KOiK04657.
OMAiRDPGEGC.
OrthoDBiEOG7QNVK7.
PhylomeDBiQ9H2X0.
TreeFamiTF106451.

Family and domain databases

InterProiIPR016353. Chordin.
IPR010895. CHRD.
IPR001007. VWF_C.
[Graphical view]
PfamiPF07452. CHRD. 4 hits.
PF00093. VWC. 3 hits.
[Graphical view]
PIRSFiPIRSF002496. Chordin. 1 hit.
SMARTiSM00754. CHRD. 4 hits.
SM00214. VWC. 4 hits.
[Graphical view]
PROSITEiPS50933. CHRD. 4 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

This entry describes 5 isoformsi produced by alternative splicing. Align

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9H2X0-1) [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
MPSLPAPPAP LLLLGLLLLG SRPARGAGPE PPVLPIRSEK EPLPVRGAAG
60 70 80 90 100
CTFGGKVYAL DETWHPDLGE PFGVMRCVLC ACEAPQWGRR TRGPGRVSCK
110 120 130 140 150
NIKPECPTPA CGQPRQLPGH CCQTCPQERS SSERQPSGLS FEYPRDPEHR
160 170 180 190 200
SYSDRGEPGA EERARGDGHT DFVALLTGPR SQAVARARVS LLRSSLRFSI
210 220 230 240 250
SYRRLDRPTR IRFSDSNGSV LFEHPAAPTQ DGLVCGVWRA VPRLSLRLLR
260 270 280 290 300
AEQLHVALVT LTHPSGEVWG PLIRHRALAA ETFSAILTLE GPPQQGVGGI
310 320 330 340 350
TLLTLSDTED SLHFLLLFRG LLEPRSGGLT QVPLRLQILH QGQLLRELQA
360 370 380 390 400
NVSAQEPGFA EVLPNLTVQE MDWLVLGELQ MALEWAGRPG LRISGHIAAR
410 420 430 440 450
KSCDVLQSVL CGADALIPVQ TGAAGSASLT LLGNGSLIYQ VQVVGTSSEV
460 470 480 490 500
VAMTLETKPQ RRDQRTVLCH MAGLQPGGHT AVGICPGLGA RGAHMLLQNE
510 520 530 540 550
LFLNVGTKDF PDGELRGHVA ALPYCGHSAR HDTLPVPLAG ALVLPPVKSQ
560 570 580 590 600
AAGHAWLSLD THCHLHYEVL LAGLGGSEQG TVTAHLLGPP GTPGPRRLLK
610 620 630 640 650
GFYGSEAQGV VKDLEPELLR HLAKGMASLM ITTKGSPRGE LRGQVHIANQ
660 670 680 690 700
CEVGGLRLEA AGAEGVRALG APDTASAAPP VVPGLPALAP AKPGGPGRPR
710 720 730 740 750
DPNTCFFEGQ QRPHGARWAP NYDPLCSLCT CQRRTVICDP VVCPPPSCPH
760 770 780 790 800
PVQAPDQCCP VCPEKQDVRD LPGLPRSRDP GEGCYFDGDR SWRAAGTRWH
810 820 830 840 850
PVVPPFGLIK CAVCTCKGGT GEVHCEKVQC PRLACAQPVR VNPTDCCKQC
860 870 880 890 900
PVGSGAHPQL GDPMQADGPR GCRFAGQWFP ESQSWHPSVP PFGEMSCITC
910 920 930 940 950
RCGAGVPHCE RDDCSLPLSC GSGKESRCCS RCTAHRRPAP ETRTDPELEK

EAEGS
Length:955
Mass (Da):102,032
Last modified:November 28, 2006 - v2
Checksum:i53F9D9F39A517686
GO
Isoform 2 (identifier: Q9H2X0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-86: PQ → GP
     87-955: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:86
Mass (Da):8,897
Checksum:i0679D7166DF9F994
GO
Isoform 3 (identifier: Q9H2X0-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-94: PQWGRRTRGP → TGTLRPREMK
     95-955: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:94
Mass (Da):9,913
Checksum:i74479F0AE711A2C4
GO
Isoform 4 (identifier: Q9H2X0-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-350: GLTQVPLRLQILHQGQLLRELQA → DSTPGAATARTSGQCLSPGTRLC
     351-955: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:350
Mass (Da):37,782
Checksum:iF18D4B0ED3EB6A98
GO
Isoform 5 (identifier: Q9H2X0-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     441-480: Missing.

Show »
Length:915
Mass (Da):97,731
Checksum:i506ADC62F09ED062
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701E → Q in AAQ89285. (PubMed:12975309)Curated
Sequence conflicti115 – 1184RQLP → QVAA in AAC69835. (PubMed:9782094)Curated
Sequence conflicti189 – 1891V → A in AAC69835. (PubMed:9782094)Curated
Sequence conflicti216 – 2161S → P in AAC69835. (PubMed:9782094)Curated
Sequence conflicti674 – 6741T → P in AAC69835. (PubMed:9782094)Curated
Sequence conflicti939 – 9391Missing in AAQ89285. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941P → S.
Corresponds to variant rs34095724 [ dbSNP | Ensembl ].
VAR_048727
Natural varianti630 – 6301M → L.2 Publications
Corresponds to variant rs16858780 [ dbSNP | Ensembl ].
VAR_021517

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei85 – 9410PQWGRRTRGP → TGTLRPREMK in isoform 3. 1 PublicationVSP_001071
Alternative sequencei85 – 862PQ → GP in isoform 2. 1 PublicationVSP_001069
Alternative sequencei87 – 955869Missing in isoform 2. 1 PublicationVSP_001070Add
BLAST
Alternative sequencei95 – 955861Missing in isoform 3. 1 PublicationVSP_001072Add
BLAST
Alternative sequencei328 – 35023GLTQV…RELQA → DSTPGAATARTSGQCLSPGT RLC in isoform 4. 1 PublicationVSP_001073Add
BLAST
Alternative sequencei351 – 955605Missing in isoform 4. 1 PublicationVSP_001074Add
BLAST
Alternative sequencei441 – 48040Missing in isoform 5. 1 PublicationVSP_001075Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF209928 mRNA. Translation: AAG35767.1.
AF209929 mRNA. Translation: AAG35768.1.
AF209930 mRNA. Translation: AAG35769.1.
AF283325 mRNA. Translation: AAG35784.1.
AY358926 mRNA. Translation: AAQ89285.1.
BC112345 mRNA. Translation: AAI12346.1.
AF076612 mRNA. Translation: AAC69835.1.
AF136632 Genomic DNA. Translation: AAF70236.1.
AF136633 Genomic DNA. Translation: AAF70237.1.
AF136634 Genomic DNA. Translation: AAF70238.1.
AF136635 Genomic DNA. Translation: AAF70239.1.
CCDSiCCDS3266.1. [Q9H2X0-1]
RefSeqiNP_003732.2. NM_003741.2. [Q9H2X0-1]
UniGeneiHs.166186.

Genome annotation databases

EnsembliENST00000204604; ENSP00000204604; ENSG00000090539. [Q9H2X0-1]
ENST00000348986; ENSP00000334036; ENSG00000090539. [Q9H2X0-5]
ENST00000356534; ENSP00000348930; ENSG00000090539. [Q9H2X0-2]
ENST00000420973; ENSP00000392794; ENSG00000090539. [Q9H2X0-4]
ENST00000448472; ENSP00000408624; ENSG00000090539. [Q9H2X0-3]
GeneIDi8646.
KEGGihsa:8646.
UCSCiuc003fov.3. human. [Q9H2X0-1]
uc010hyc.3. human. [Q9H2X0-5]

Polymorphism databases

DMDMi118572631.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF209928 mRNA. Translation: AAG35767.1 .
AF209929 mRNA. Translation: AAG35768.1 .
AF209930 mRNA. Translation: AAG35769.1 .
AF283325 mRNA. Translation: AAG35784.1 .
AY358926 mRNA. Translation: AAQ89285.1 .
BC112345 mRNA. Translation: AAI12346.1 .
AF076612 mRNA. Translation: AAC69835.1 .
AF136632 Genomic DNA. Translation: AAF70236.1 .
AF136633 Genomic DNA. Translation: AAF70237.1 .
AF136634 Genomic DNA. Translation: AAF70238.1 .
AF136635 Genomic DNA. Translation: AAF70239.1 .
CCDSi CCDS3266.1. [Q9H2X0-1 ]
RefSeqi NP_003732.2. NM_003741.2. [Q9H2X0-1 ]
UniGenei Hs.166186.

3D structure databases

ProteinModelPortali Q9H2X0.
SMRi Q9H2X0. Positions 46-131, 700-766, 780-855, 867-937.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114198. 8 interactions.
DIPi DIP-48857N.
IntActi Q9H2X0. 11 interactions.
MINTi MINT-2817631.

PTM databases

PhosphoSitei Q9H2X0.

Polymorphism databases

DMDMi 118572631.

Proteomic databases

PaxDbi Q9H2X0.
PRIDEi Q9H2X0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000204604 ; ENSP00000204604 ; ENSG00000090539 . [Q9H2X0-1 ]
ENST00000348986 ; ENSP00000334036 ; ENSG00000090539 . [Q9H2X0-5 ]
ENST00000356534 ; ENSP00000348930 ; ENSG00000090539 . [Q9H2X0-2 ]
ENST00000420973 ; ENSP00000392794 ; ENSG00000090539 . [Q9H2X0-4 ]
ENST00000448472 ; ENSP00000408624 ; ENSG00000090539 . [Q9H2X0-3 ]
GeneIDi 8646.
KEGGi hsa:8646.
UCSCi uc003fov.3. human. [Q9H2X0-1 ]
uc010hyc.3. human. [Q9H2X0-5 ]

Organism-specific databases

CTDi 8646.
GeneCardsi GC03P184097.
H-InvDB HIX0003911.
HGNCi HGNC:1949. CHRD.
HPAi CAB020705.
HPA035827.
MIMi 603475. gene.
neXtProti NX_Q9H2X0.
PharmGKBi PA26482.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85639.
GeneTreei ENSGT00730000110792.
HOVERGENi HBG005330.
InParanoidi Q9H2X0.
KOi K04657.
OMAi RDPGEGC.
OrthoDBi EOG7QNVK7.
PhylomeDBi Q9H2X0.
TreeFami TF106451.

Miscellaneous databases

GenomeRNAii 8646.
NextBioi 32415.
PMAP-CutDB Q9H2X0.
PROi Q9H2X0.
SOURCEi Search...

Gene expression databases

Bgeei Q9H2X0.
ExpressionAtlasi Q9H2X0. baseline and differential.
Genevestigatori Q9H2X0.

Family and domain databases

InterProi IPR016353. Chordin.
IPR010895. CHRD.
IPR001007. VWF_C.
[Graphical view ]
Pfami PF07452. CHRD. 4 hits.
PF00093. VWC. 3 hits.
[Graphical view ]
PIRSFi PIRSF002496. Chordin. 1 hit.
SMARTi SM00754. CHRD. 4 hits.
SM00214. VWC. 4 hits.
[Graphical view ]
PROSITEi PS50933. CHRD. 4 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human chordin gene encodes several differentially expressed spliced variants with distinct BMP opposing activities."
    Millet C., Lemaire P., Orsetti B., Guglielmi P., Francois V.
    Mech. Dev. 106:85-96(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT LEU-630.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "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).
  4. "Coding sequence and expression patterns of mouse chordin and mapping of the cognate mouse chrd and human CHRD genes."
    Pappano W.N., Scott I.C., Clark T.G., Eddy R.L., Shows T.B., Greenspan D.S.
    Genomics 52:236-239(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 115-955 (ISOFORM 5), VARIANT LEU-630.
  5. "BMP-binding modules in chordin: a model for signalling regulation in the extracellular space."
    Larrain J., Bachiller D., Lu B., Agius E., Piccolo S., De Robertis E.M.
    Development 127:821-830(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 51-125; 705-762; 784-850 AND 872-932.
  6. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Entry informationi

Entry nameiCHRD_HUMAN
AccessioniPrimary (citable) accession number: Q9H2X0
Secondary accession number(s): O95254
, Q2M1I8, Q6UW83, Q9H2D3, Q9H2W8, Q9H2W9, Q9P0Z2, Q9P0Z3, Q9P0Z4, Q9P0Z5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 28, 2006
Last modified: October 29, 2014
This is version 113 of the entry and version 2 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

External Data

Dasty 3