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Protein

Noggin

Gene

NOG

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

Functioni

Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732).3 Publications

GO - Molecular functioni

  • cytokine binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processChondrogenesis, Differentiation

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SIGNORiQ13253

Names & Taxonomyi

Protein namesi
Recommended name:
Noggin
Gene namesi
Name:NOG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000183691.4
HGNCiHGNC:7866 NOG
MIMi602991 gene
neXtProtiNX_Q13253

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Symphalangism, proximal 1A (SYM1A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.
See also OMIM:185800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018325184C → Y in SYM1A; sporadic; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs104894612EnsemblClinVar.1
Natural variantiVAR_011362189G → C in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894609EnsemblClinVar.1
Natural variantiVAR_037605205W → C in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894615EnsemblClinVar.1
Natural variantiVAR_011364220I → N in SYM1A. 1 Publication1
Natural variantiVAR_011366222Y → D in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs121908948EnsemblClinVar.1
Natural variantiVAR_011367223P → L in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894608EnsemblClinVar.1
Multiple synostoses syndrome 1 (SYNS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.
See also OMIM:186500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011363217W → G in SYNS1. 1 PublicationCorresponds to variant dbSNP:rs104894603EnsemblClinVar.1
Natural variantiVAR_064541232C → W in SYNS1. 1 PublicationCorresponds to variant dbSNP:rs387906844EnsemblClinVar.1
Tarsal-carpal coalition syndrome (TCC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.
See also OMIM:186570
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018326204R → L in TCC. 1 PublicationCorresponds to variant dbSNP:rs104894610EnsemblClinVar.1
Stapes ankylosis with broad thumb and toes (SABTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCongenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.
See also OMIM:184460
Brachydactyly B2 (BDB2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.
See also OMIM:611377
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03699735P → A in BDB2. 1 PublicationCorresponds to variant dbSNP:rs28937580EnsemblClinVar.1
Natural variantiVAR_03699836A → P in BDB2. 1 Publication1
Natural variantiVAR_03699948E → K in BDB2. 1 Publication1
Natural variantiVAR_037000167R → G in BDB2. 1 PublicationCorresponds to variant dbSNP:rs121908949EnsemblClinVar.1
Natural variantiVAR_037001187P → S in BDB2. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi9241
MalaCardsiNOG
MIMi184460 phenotype
185800 phenotype
186500 phenotype
186570 phenotype
611377 phenotype
OpenTargetsiENSG00000183691
Orphaneti140908 Brachydactyly type B2
3237 Multiple synostoses syndrome
3250 Proximal symphalangism
140917 Stapes ankylosis with broad thumbs and toes
1412 Tarsal-carpal coalition syndrome
PharmGKBiPA31670

Polymorphism and mutation databases

BioMutaiNOG
DMDMi15214099

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000001981328 – 232NogginAdd BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi62N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi155 ↔ 1921 Publication
Disulfide bondi178 ↔ 2281 Publication
Disulfide bondi184 ↔ 2301 Publication
Disulfide bondi207 ↔ 2151 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ13253
PeptideAtlasiQ13253
PRIDEiQ13253

PTM databases

iPTMnetiQ13253
PhosphoSitePlusiQ13253

Expressioni

Gene expression databases

BgeeiENSG00000183691
CleanExiHS_NOG
GenevisibleiQ13253 HS

Organism-specific databases

HPAiHPA061318

Interactioni

Subunit structurei

Homodimer. Interacts with GDF5; inhibits chondrocyte differentiation.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BMP2P126432EBI-1035205,EBI-1029262

GO - Molecular functioni

  • cytokine binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi114668, 47 interactors
IntActiQ13253, 3 interactors
MINTiQ13253
STRINGi9606.ENSP00000328181

Structurei

Secondary structure

1232
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi29 – 32Combined sources4
Helixi58 – 60Combined sources3
Helixi63 – 70Combined sources8
Helixi71 – 73Combined sources3
Turni76 – 78Combined sources3
Beta strandi79 – 82Combined sources4
Helixi99 – 109Combined sources11
Helixi118 – 121Combined sources4
Beta strandi129 – 131Combined sources3
Helixi139 – 153Combined sources15
Beta strandi158 – 163Combined sources6
Beta strandi168 – 177Combined sources10
Beta strandi185 – 188Combined sources4
Beta strandi191 – 207Combined sources17
Helixi210 – 212Combined sources3
Beta strandi214 – 231Combined sources18

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M4UX-ray2.42A28-232[»]
ProteinModelPortaliQ13253
SMRiQ13253
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13253

Family & Domainsi

Sequence similaritiesi

Belongs to the noggin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IIR6 Eukaryota
ENOG410Z62S LUCA
GeneTreeiENSGT00390000006009
HOGENOMiHOG000089944
HOVERGENiHBG006514
InParanoidiQ13253
KOiK04658
OMAiRCTWIPI
OrthoDBiEOG091G0HWR
PhylomeDBiQ13253
TreeFamiTF353745

Family and domain databases

Gene3Di2.10.90.10, 2 hits
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR008717 Noggin
PANTHERiPTHR10494 PTHR10494, 1 hit
PIRSFiPIRSF008129 Noggin, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q13253-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERCPSLGVT LYALVVVLGL RATPAGGQHY LHIRPAPSDN LPLVDLIEHP
60 70 80 90 100
DPIFDPKEKD LNETLLRSLL GGHYDPGFMA TSPPEDRPGG GGGAAGGAED
110 120 130 140 150
LAELDQLLRQ RPSGAMPSEI KGLEFSEGLA QGKKQRLSKK LRRKLQMWLW
160 170 180 190 200
SQTFCPVLYA WNDLGSRFWP RYVKVGSCFS KRSCSVPEGM VCKPSKSVHL
210 220 230
TVLRWRCQRR GGQRCGWIPI QYPIISECKC SC
Length:232
Mass (Da):25,774
Last modified:November 1, 1996 - v1
Checksum:iFCA0D8E1E2098580
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03699735P → A in BDB2. 1 PublicationCorresponds to variant dbSNP:rs28937580EnsemblClinVar.1
Natural variantiVAR_01136135P → R in SYM1A and TCC. 2 PublicationsCorresponds to variant dbSNP:rs104894611EnsemblClinVar.1
Natural variantiVAR_01832435P → S in SYM1A and BDB2. 2 PublicationsCorresponds to variant dbSNP:rs28937580EnsemblClinVar.1
Natural variantiVAR_03699836A → P in BDB2. 1 Publication1
Natural variantiVAR_03699948E → K in BDB2. 1 Publication1
Natural variantiVAR_037000167R → G in BDB2. 1 PublicationCorresponds to variant dbSNP:rs121908949EnsemblClinVar.1
Natural variantiVAR_018325184C → Y in SYM1A; sporadic; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs104894612EnsemblClinVar.1
Natural variantiVAR_037001187P → S in BDB2. 1 Publication1
Natural variantiVAR_011362189G → C in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894609EnsemblClinVar.1
Natural variantiVAR_018326204R → L in TCC. 1 PublicationCorresponds to variant dbSNP:rs104894610EnsemblClinVar.1
Natural variantiVAR_037605205W → C in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894615EnsemblClinVar.1
Natural variantiVAR_011363217W → G in SYNS1. 1 PublicationCorresponds to variant dbSNP:rs104894603EnsemblClinVar.1
Natural variantiVAR_011364220I → N in SYM1A. 1 Publication1
Natural variantiVAR_011365222Y → C in SYM1A and TCC. 2 PublicationsCorresponds to variant dbSNP:rs104894602EnsemblClinVar.1
Natural variantiVAR_011366222Y → D in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs121908948EnsemblClinVar.1
Natural variantiVAR_011367223P → L in SYM1A. 1 PublicationCorresponds to variant dbSNP:rs104894608EnsemblClinVar.1
Natural variantiVAR_064541232C → W in SYNS1. 1 PublicationCorresponds to variant dbSNP:rs387906844EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31202 Genomic DNA Translation: AAA83259.1
BC034027 mRNA Translation: AAH34027.1
CCDSiCCDS11589.1
RefSeqiNP_005441.1, NM_005450.4
UniGeneiHs.248201

Genome annotation databases

EnsembliENST00000332822; ENSP00000328181; ENSG00000183691
GeneIDi9241
KEGGihsa:9241
UCSCiuc002iup.2 human

Similar proteinsi

Entry informationi

Entry nameiNOGG_HUMAN
AccessioniPrimary (citable) accession number: Q13253
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: November 1, 1996
Last modified: March 28, 2018
This is version 169 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

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