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P43026

- GDF5_HUMAN

UniProt

P43026 - GDF5_HUMAN

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Protein

Growth/differentiation factor 5

Gene
GDF5, BMP14, CDMP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 By similarity. Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes.3 Publications

GO - Molecular functioni

  1. growth factor activity Source: ProtInc
  2. protein binding Source: IntAct

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. chondrocyte differentiation Source: Ensembl
  3. embryonic limb morphogenesis Source: Ensembl
  4. extracellular matrix organization Source: Reactome
  5. forelimb morphogenesis Source: Ensembl
  6. growth Source: InterPro
  7. hindlimb morphogenesis Source: Ensembl
  8. negative regulation of epithelial cell proliferation Source: BHF-UCL
  9. negative regulation of mesenchymal cell apoptotic process Source: Ensembl
  10. negative regulation of neuron apoptotic process Source: Ensembl
  11. positive regulation of chondrocyte differentiation Source: Ensembl
  12. positive regulation of neuron differentiation Source: Ensembl
  13. regulation of multicellular organism growth Source: Ensembl
  14. transforming growth factor beta receptor signaling pathway Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Growth factor

Keywords - Biological processi

Chondrogenesis

Enzyme and pathway databases

ReactomeiREACT_150331. Molecules associated with elastic fibres.
SignaLinkiP43026.

Names & Taxonomyi

Protein namesi
Recommended name:
Growth/differentiation factor 5
Short name:
GDF-5
Alternative name(s):
Bone morphogenetic protein 14
Short name:
BMP-14
Cartilage-derived morphogenetic protein 1
Short name:
CDMP-1
Lipopolysaccharide-associated protein 4
Short name:
LAP-4
Short name:
LPS-associated protein 4
Radotermin
Gene namesi
Name:GDF5
Synonyms:BMP14, CDMP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:4220. GDF5.

Subcellular locationi

Secreted. Cell membrane 1 Publication

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. extracellular space Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti400 – 4001C → Y in AMDG. 1 Publication
VAR_017407
Acromesomelic chondrodysplasia, Hunter-Thompson type (AMDH) [MIM:201250]: An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Brachydactyly C (BDC) [MIM:113100]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others.
Note: The disease is caused by mutations affecting the gene represented in this entry. Some BDC patients with GDF5 mutations also manifest clinical features of ASPED angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. This suggests that BDC and ASPED are part of the same clinical spectrum (1 Publication).2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti173 – 1731M → V in BDC. 1 Publication
Corresponds to variant rs28936397 [ dbSNP | Ensembl ].
VAR_037978
Du Pan syndrome (DPS) [MIM:228900]: Rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non-functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti378 – 3781R → Q in DPS. 1 Publication
VAR_054910
Natural varianti436 – 4361P → T in DPS. 1 Publication
VAR_054911
Natural varianti437 – 4371Missing in DPS; located on the same allele as T-439 and L-440. 1 Publication
VAR_037979
Natural varianti439 – 4391S → T in DPS; located on the same allele as L-437 del and L-440. 1 Publication
VAR_037980
Natural varianti440 – 4401H → L in DPS; located on the same allele as L-437 del and T-439. 1 Publication
VAR_037981
Natural varianti441 – 4411L → P in DPS and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains. 2 Publications
Corresponds to variant rs28936683 [ dbSNP | Ensembl ].
VAR_017408
Symphalangism, proximal 1B (SYM1B) [MIM:615298]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti373 – 3731L → R in SYM1B; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells. 1 Publication
VAR_054909
Natural varianti438 – 4381R → L in SYNS2 and SYM1B; increased biological activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A. 2 Publications
VAR_026545
Natural varianti491 – 4911E → K in SYM1B. 1 Publication
VAR_037983
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti438 – 4381R → L in SYNS2 and SYM1B; increased biological activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A. 2 Publications
VAR_026545
Natural varianti475 – 4751S → N in SYNS2. 1 Publication
VAR_037982
Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti380 – 3801R → Q in BDA2; reduces activity; impairs processing. 1 Publication
VAR_046743
Natural varianti441 – 4411L → P in DPS and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains. 2 Publications
Corresponds to variant rs28936683 [ dbSNP | Ensembl ].
VAR_017408
Osteoarthritis 5 (OS5) [MIM:612400]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Brachydactyly A1, C (BDA1C) [MIM:615072]: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti399 – 3991R → C in BDA1C; less effective than wild-type in stimulating chondrogenesis. 1 Publication
VAR_064416

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi112600. phenotype.
113100. phenotype.
200700. phenotype.
201250. phenotype.
228900. phenotype.
610017. phenotype.
612400. phenotype.
615072. phenotype.
615298. phenotype.
Orphaneti2098. Acromesomelic dysplasia, Grebe type.
968. Acromesomelic dysplasia, Hunter-Thomson type.
63442. Angel-shaped phalango-epiphyseal dysplasia.
93388. Brachydactyly type A1.
93396. Brachydactyly type A2.
93384. Brachydactyly type C.
2639. Fibular aplasia - complex brachydactyly.
3237. Multiple synostoses syndrome.
3250. Proximal symphalangism.
PharmGKBiPA28635.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727 Reviewed predictionAdd
BLAST
Propeptidei28 – 381354 Reviewed predictionPRO_0000033912Add
BLAST
Chaini382 – 501120Growth/differentiation factor 5PRO_0000033913Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi189 – 1891N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi400 ↔ 4661 Publication
Disulfide bondi429 ↔ 4981 Publication
Disulfide bondi433 ↔ 5001 Publication
Disulfide bondi465 – 465Interchain By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP43026.
PRIDEiP43026.

PTM databases

PhosphoSiteiP43026.

Expressioni

Tissue specificityi

Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level).1 Publication

Gene expression databases

ArrayExpressiP43026.
BgeeiP43026.
CleanExiHS_GDF5.
GenevestigatoriP43026.

Organism-specific databases

HPAiHPA015648.

Interactioni

Subunit structurei

Homodimer; disulfide-linked By similarity. Interacts with serine proteases, HTRA1 and HTRA3 By similarity. Following LPS binding, may form a complex with CXCR4, HSP90AA1 and HSPA8.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BMPR1AP368942EBI-8571476,EBI-1029237
BMPR1BO002386EBI-8571476,EBI-7527193
BMPR2Q138734EBI-8571476,EBI-527196

Protein-protein interaction databases

BioGridi113839. 6 interactions.
DIPiDIP-5823N.
IntActiP43026. 3 interactions.
MINTiMINT-7264433.
STRINGi9606.ENSP00000363489.

Structurei

Secondary structure

1
501
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi399 – 4035
Beta strandi406 – 4083
Helixi410 – 4123
Helixi414 – 4163
Beta strandi418 – 4203
Beta strandi422 – 4254
Beta strandi428 – 4325
Helixi439 – 4413
Helixi445 – 45612
Turni458 – 4603
Beta strandi466 – 47914
Beta strandi481 – 4833
Beta strandi485 – 50016

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WAQX-ray2.28A387-501[»]
2BHKX-ray2.40A382-501[»]
3EVSX-ray2.10B387-501[»]
3QB4X-ray2.28A/C387-501[»]
ProteinModelPortaliP43026.
SMRiP43026. Positions 398-501.

Miscellaneous databases

EvolutionaryTraceiP43026.

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG317866.
HOGENOMiHOG000231514.
HOVERGENiHBG107938.
InParanoidiP43026.
KOiK04664.
OMAiPITPHEY.
OrthoDBiEOG7WMCK0.
PhylomeDBiP43026.
TreeFamiTF316134.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P43026-1 [UniParc]FASTAAdd to Basket

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MRLPKLLTFL LWYLAWLDLE FICTVLGAPD LGQRPQGTRP GLAKAEAKER    50
PPLARNVFRP GGHSYGGGAT NANARAKGGT GQTGGLTQPK KDEPKKLPPR 100
PGGPEPKPGH PPQTRQATAR TVTPKGQLPG GKAPPKAGSV PSSFLLKKAR 150
EPGPPREPKE PFRPPPITPH EYMLSLYRTL SDADRKGGNS SVKLEAGLAN 200
TITSFIDKGQ DDRGPVVRKQ RYVFDISALE KDGLLGAELR ILRKKPSDTA 250
KPAAPGGGRA AQLKLSSCPS GRQPASLLDV RSVPGLDGSG WEVFDIWKLF 300
RNFKNSAQLC LELEAWERGR AVDLRGLGFD RAARQVHEKA LFLVFGRTKK 350
RDLFFNEIKA RSGQDDKTVY EYLFSQRRKR RAPLATRQGK RPSKNLKARC 400
SRKALHVNFK DMGWDDWIIA PLEYEAFHCE GLCEFPLRSH LEPTNHAVIQ 450
TLMNSMDPES TPPTCCVPTR LSPISILFID SANNVVYKQY EDMVVESCGC 500
R 501
Length:501
Mass (Da):55,411
Last modified:January 23, 2002 - v3
Checksum:i37985F2D15C4F5EF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631R → G.
Corresponds to variant rs34534075 [ dbSNP | Ensembl ].
VAR_037977
Natural varianti173 – 1731M → V in BDC. 1 Publication
Corresponds to variant rs28936397 [ dbSNP | Ensembl ].
VAR_037978
Natural varianti276 – 2761S → A.2 Publications
Corresponds to variant rs224331 [ dbSNP | Ensembl ].
VAR_026120
Natural varianti373 – 3731L → R in SYM1B; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells. 1 Publication
VAR_054909
Natural varianti378 – 3781R → Q in DPS. 1 Publication
VAR_054910
Natural varianti380 – 3801R → Q in BDA2; reduces activity; impairs processing. 1 Publication
VAR_046743
Natural varianti399 – 3991R → C in BDA1C; less effective than wild-type in stimulating chondrogenesis. 1 Publication
VAR_064416
Natural varianti400 – 4001C → Y in AMDG. 1 Publication
VAR_017407
Natural varianti436 – 4361P → T in DPS. 1 Publication
VAR_054911
Natural varianti437 – 4371Missing in DPS; located on the same allele as T-439 and L-440. 1 Publication
VAR_037979
Natural varianti438 – 4381R → L in SYNS2 and SYM1B; increased biological activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A. 2 Publications
VAR_026545
Natural varianti439 – 4391S → T in DPS; located on the same allele as L-437 del and L-440. 1 Publication
VAR_037980
Natural varianti440 – 4401H → L in DPS; located on the same allele as L-437 del and T-439. 1 Publication
VAR_037981
Natural varianti441 – 4411L → P in DPS and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains. 2 Publications
Corresponds to variant rs28936683 [ dbSNP | Ensembl ].
VAR_017408
Natural varianti475 – 4751S → N in SYNS2. 1 Publication
VAR_037982
Natural varianti491 – 4911E → K in SYM1B. 1 Publication
VAR_037983

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti38 – 381T → S in AAA57007. 1 Publication
Sequence conflicti254 – 2585APGGG → VPRSR in AAA57007. 1 Publication
Sequence conflicti321 – 3211A → T in AAA57007. 1 Publication
Sequence conflicti384 – 3841L → S in AAA57007. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X80915 Genomic DNA. Translation: CAA56874.1.
U13660 mRNA. Translation: AAA57007.1.
AL121586 Genomic DNA. Translation: CAB89416.1.
CH471077 Genomic DNA. Translation: EAW76208.1.
CH471077 Genomic DNA. Translation: EAW76209.1.
BC032495 mRNA. Translation: AAH32495.1.
CCDSiCCDS13254.1.
PIRiA55452.
JC2347.
RefSeqiNP_000548.2. NM_000557.4.
UniGeneiHs.1573.

Genome annotation databases

EnsembliENST00000374369; ENSP00000363489; ENSG00000125965.
ENST00000374372; ENSP00000363492; ENSG00000125965.
GeneIDi8200.
KEGGihsa:8200.
UCSCiuc002xck.1. human.

Polymorphism databases

DMDMi20141384.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

GDF5 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X80915 Genomic DNA. Translation: CAA56874.1 .
U13660 mRNA. Translation: AAA57007.1 .
AL121586 Genomic DNA. Translation: CAB89416.1 .
CH471077 Genomic DNA. Translation: EAW76208.1 .
CH471077 Genomic DNA. Translation: EAW76209.1 .
BC032495 mRNA. Translation: AAH32495.1 .
CCDSi CCDS13254.1.
PIRi A55452.
JC2347.
RefSeqi NP_000548.2. NM_000557.4.
UniGenei Hs.1573.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WAQ X-ray 2.28 A 387-501 [» ]
2BHK X-ray 2.40 A 382-501 [» ]
3EVS X-ray 2.10 B 387-501 [» ]
3QB4 X-ray 2.28 A/C 387-501 [» ]
ProteinModelPortali P43026.
SMRi P43026. Positions 398-501.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113839. 6 interactions.
DIPi DIP-5823N.
IntActi P43026. 3 interactions.
MINTi MINT-7264433.
STRINGi 9606.ENSP00000363489.

PTM databases

PhosphoSitei P43026.

Polymorphism databases

DMDMi 20141384.

Proteomic databases

PaxDbi P43026.
PRIDEi P43026.

Protocols and materials databases

DNASUi 8200.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374369 ; ENSP00000363489 ; ENSG00000125965 .
ENST00000374372 ; ENSP00000363492 ; ENSG00000125965 .
GeneIDi 8200.
KEGGi hsa:8200.
UCSCi uc002xck.1. human.

Organism-specific databases

CTDi 8200.
GeneCardsi GC20M034021.
HGNCi HGNC:4220. GDF5.
HPAi HPA015648.
MIMi 112600. phenotype.
113100. phenotype.
200700. phenotype.
201250. phenotype.
228900. phenotype.
601146. gene.
610017. phenotype.
612400. phenotype.
615072. phenotype.
615298. phenotype.
neXtProti NX_P43026.
Orphaneti 2098. Acromesomelic dysplasia, Grebe type.
968. Acromesomelic dysplasia, Hunter-Thomson type.
63442. Angel-shaped phalango-epiphyseal dysplasia.
93388. Brachydactyly type A1.
93396. Brachydactyly type A2.
93384. Brachydactyly type C.
2639. Fibular aplasia - complex brachydactyly.
3237. Multiple synostoses syndrome.
3250. Proximal symphalangism.
PharmGKBi PA28635.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG317866.
HOGENOMi HOG000231514.
HOVERGENi HBG107938.
InParanoidi P43026.
KOi K04664.
OMAi PITPHEY.
OrthoDBi EOG7WMCK0.
PhylomeDBi P43026.
TreeFami TF316134.

Enzyme and pathway databases

Reactomei REACT_150331. Molecules associated with elastic fibres.
SignaLinki P43026.

Miscellaneous databases

EvolutionaryTracei P43026.
GeneWikii GDF5.
GenomeRNAii 8200.
NextBioi 30902.
PROi P43026.
SOURCEi Search...

Gene expression databases

ArrayExpressi P43026.
Bgeei P43026.
CleanExi HS_GDF5.
Genevestigatori P43026.

Family and domain databases

Gene3Di 2.10.90.10. 1 hit.
InterProi IPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view ]
PANTHERi PTHR11848. PTHR11848. 1 hit.
Pfami PF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view ]
SMARTi SM00204. TGFB. 1 hit.
[Graphical view ]
SUPFAMi SSF57501. SSF57501. 1 hit.
PROSITEi PS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression of recombinant human growth/differentiation factor 5."
    Hoetten G., Neidhardt H., Jacobowsky B., Pohl J.
    Biochem. Biophys. Res. Commun. 204:646-652(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  2. "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development."
    Chang S., Hoang B., Thomas J.T., Vukicevic S., Luyten F.P., Ryba N.J.P., Kozak C.A., Reddi A.H., Moos M.
    J. Biol. Chem. 269:28227-28234(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-276.
    Tissue: Articular cartilage.
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-276.
  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].
    Tissue: Brain.
  6. Cited for: FUNCTION, IDENTIFICATION AS LPS RECEPTOR, INTERACTION WITH CXCR4; HSP90AA1 AND HSPA8, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  7. "Cartilage-derived morphogenetic protein-1 promotes the differentiation of mesenchymal stem cells into chondrocytes."
    Bai X., Xiao Z., Pan Y., Hu J., Pohl J., Wen J., Li L.
    Biochem. Biophys. Res. Commun. 325:453-460(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "A novel mutation in CDMP1 causes brachydactyly type C with 'angel-shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum."
    Gutierrez-Amavizca B.E., Brambila-Tapia A.J., Juarez-Vazquez C.I., Holder-Espinasse M., Manouvrier-Hanu S., Escande F., Barros-Nunez P.
    Eur. J. Med. Genet. 55:611-614(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BDC.
  9. "Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity."
    Kotzsch A., Nickel J., Seher A., Sebald W., Muller T.D.
    EMBO J. 28:937-947(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 387-501 IN COMPLEX WITH MOUSE BMPR1B, FUNCTION, DISULFIDE BONDS.
  10. "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1."
    Thomas J.T., Kilpatrick M.W., Lin K., Erlacher L., Lembessis P., Costa T., Tsipouras P., Luyten F.P.
    Nat. Genet. 17:58-64(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AMDG TYR-400.
  11. "Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5)."
    Akarsu A.N., Rezaie T., Demirtas M., Farhud D.D., Sarfarazi M.
    Am. J. Hum. Genet. 65:A281-A281(1999)
    Cited for: VARIANT SYNS2 ASN-475.
  12. "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)."
    Faiyaz-Ul-Haque M., Ahmad W., Zaidi S.H.E., Haque S., Teebi A.S., Ahmad M., Cohn D.H., Tsui L.-C.
    Clin. Genet. 61:454-458(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DPS PRO-441.
  13. "Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1."
    Schwabe G.C., Tuerkmen S., Leschik G., Palanduz S., Stoever B., Goecke T.O., Mundlos S.
    Am. J. Med. Genet. A 124:356-363(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BDC VAL-173.
  14. "Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene."
    Szczaluba K., Hilbert K., Obersztyn E., Zabel B., Mazurczak T., Kozlowski K.
    Am. J. Med. Genet. A 138:379-383(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DPS LEU-437 DEL; THR-439 AND LEU-440.
  15. "Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2."
    Seemann P., Schwappacher R., Kjaer K.W., Krakow D., Lehmann K., Dawson K., Stricker S., Pohl J., Ploeger F., Staub E., Nickel J., Sebald W., Knaus P., Mundlos S.
    J. Clin. Invest. 115:2373-2381(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SYM1B LEU-438, VARIANT BDA2 PRO-441, CHARACTERIZATION OF VARIANT SYM1B LEU-438, CHARACTERIZATION OF VARIANT BDA2 PRO-441.
  16. Cited for: VARIANT SYNS2 LEU-438.
  17. "A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families."
    Wang X., Xiao F., Yang Q., Liang B., Tang Z., Jiang L., Zhu Q., Chang W., Jiang J., Jiang C., Ren X., Liu J.-Y., Wang Q.K., Liu M.
    Am. J. Med. Genet. A 140:1846-1853(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SYM1B LYS-491.
  18. "A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis."
    Miyamoto Y., Mabuchi A., Shi D., Kubo T., Takatori Y., Saito S., Fujioka M., Sudo A., Uchida A., Yamamoto S., Ozaki K., Takigawa M., Tanaka T., Nakamura Y., Jiang Q., Ikegawa S.
    Nat. Genet. 39:529-533(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO OSTEOARTHRITIS TYPE 5.
  19. "Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia."
    Douzgou S., Lehmann K., Mingarelli R., Mundlos S., Dallapiccola B.
    Am. J. Med. Genet. A 146:2116-2121(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DPS GLN-378 AND THR-436.
  20. Cited for: VARIANT BDA2 GLN-380, CHARACTERIZATION OF VARIANT BDA2 GLN-380.
  21. "Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism."
    Yang W., Cao L., Liu W., Jiang L., Sun M., Zhang D., Wang S., Lo W.H., Luo Y., Zhang X.
    J. Hum. Genet. 53:368-374(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SYM1B ARG-373, CHARACTERIZATION OF VARIANT SYM1B ARG-373.
  22. Cited for: VARIANT BDA1C CYS-399, CHARACTERIZATION OF VARIANT BDA1C CYS-399.

Entry informationi

Entry nameiGDF5_HUMAN
AccessioniPrimary (citable) accession number: P43026
Secondary accession number(s): E1P5Q2, Q96SB1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2002
Last modified: September 3, 2014
This is version 156 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3