P43026 (GDF5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Growth/differentiation factor 5
Short name=GDF-5

Alternative name(s):
Cartilage-derived morphogenetic protein 1
Short name=CDMP-1
Radotermin

Gene names

Name:	GDF5
Synonyms:	CDMP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	501 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B. Ref.6 Ref.8
Subunit structure	Homodimer; disulfide-linked By similarity. Interacts with serine proteases, HTRA1 and HTRA3 By similarity. Ref.8
Subcellular location	Secreted.
Tissue specificity	Predominantly expressed in long bones during embryonic development.
Involvement in disease	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 limbsand 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. Ref.9 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 (Ref.7). Ref.7 Ref.12 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. Ref.11 Ref.13 Ref.18 Symphalangism proximal syndrome (SYM1) [MIM:185800]: Characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. 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. Conducive 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. Ref.14 Ref.16 Ref.20 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. Ref.10 Ref.15 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. Ref.14 Ref.19 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 (BDA1) [MIM:112500]: 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 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 may be caused by mutations affecting the gene represented in this entry. Ref.21
Sequence similarities	Belongs to the TGF-beta family.

Ontologies

Keywords
Biological process	Chondrogenesis
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Dwarfism
Domain	Signal
Molecular function	Cytokine Growth factor
PTM	Cleavage on pair of basic residues Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cartilage development Inferred from electronic annotation. Source: UniProtKB-KW cell-cell signaling Traceable author statement PubMed 8589725. Source: ProtInc embryonic limb morphogenesis Inferred from electronic annotation. Source: Compara forelimb morphogenesis Inferred from electronic annotation. Source: Compara growth Inferred from electronic annotation. Source: InterPro hindlimb morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of epithelial cell proliferation Inferred from direct assay PubMed 9950587. Source: BHF-UCL positive regulation of chondrocyte differentiation Inferred from electronic annotation. Source: Compara regulation of apoptotic process Inferred from electronic annotation. Source: Compara regulation of multicellular organism growth Inferred from electronic annotation. Source: Compara transforming growth factor beta receptor signaling pathway Traceable author statement Ref.2. Source: ProtInc
Cellular_component	extracellular space Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	growth factor activity Traceable author statement PubMed 8589725. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 27

27

Potential

Propeptide

28 – 381

354

Potential

PRO_0000033912

Chain

382 – 501

120

Growth/differentiation factor 5

PRO_0000033913

Amino acid modifications

Glycosylation

189

1

N-linked (GlcNAc...) Potential

Disulfide bond

400 ↔ 466

Ref.8

Disulfide bond

429 ↔ 498

Ref.8

Disulfide bond

433 ↔ 500

Ref.8

Disulfide bond

465

Interchain By similarity

Natural variations

Natural variant

163

1

R → G.
Corresponds to variant rs34534075 [ dbSNP | Ensembl ].

VAR_037977

Natural variant

173

1

M → V in BDC. Ref.12
Corresponds to variant rs28936397 [ dbSNP | Ensembl ].

VAR_037978

Natural variant

276

1

S → A. Ref.2 Ref.4
Corresponds to variant rs224331 [ dbSNP | Ensembl ].

VAR_026120

Natural variant

373

1

L → R in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells. Ref.20

VAR_054909

Natural variant

378

1

R → Q in DPS. Ref.18

VAR_054910

Natural variant

380

1

R → Q in BDA2; reduces activity; impairs processing. Ref.19

VAR_046743

Natural variant

399

1

R → C in BDA1; less effective than wild-type in stimulating chondrogenesis. Ref.21

VAR_064416

Natural variant

400

1

C → Y in AMDG. Ref.9

VAR_017407

Natural variant

436

1

P → T in DPS. Ref.18

VAR_054911

Natural variant

437

1

Missing in DPS; located on the same allele as T-439 and L-440. Ref.13

VAR_037979

Natural variant

438

1

R → L in SYNS2 and SYM1; increased biological activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A. Ref.14 Ref.15

VAR_026545

Natural variant

439

1

S → T in DPS; located on the same allele as L-437 del and L-440. Ref.13

VAR_037980

Natural variant

440

1

H → L in DPS; located on the same allele as L-437 del and T-439. Ref.13

VAR_037981

Natural variant

441

1

L → P in DPS and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains. Ref.11 Ref.14
Corresponds to variant rs28936683 [ dbSNP | Ensembl ].

VAR_017408

Natural variant

475

1

S → N in SYNS2. Ref.10

VAR_037982

Natural variant

491

1

E → K in SYM1. Ref.16

VAR_037983

Experimental info

Sequence conflict

38

1

T → S in AAA57007. Ref.2

Sequence conflict

254 – 258

5

APGGG → VPRSR in AAA57007. Ref.2

Sequence conflict

321

1

A → T in AAA57007. Ref.2

Sequence conflict

384

1

L → S in AAA57007. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

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.

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.

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501

Helix Strand Turn

Details...

Beta strand

399 – 403

5

Beta strand

406 – 408

3

Helix

410 – 412

3

Helix

414 – 416

3

Beta strand

418 – 420

3

Beta strand

422 – 425

4

Beta strand

428 – 432

5

Helix

439 – 441

3

Helix

445 – 456

12

Turn

458 – 460

3

Beta strand

466 – 479

14

Beta strand

481 – 483

3

Beta strand

485 – 500

16

Sequences

	Sequence		Length	Mass (Da)
	P43026 [UniParc]. Last modified January 23, 2002. Version 3. Checksum: 37985F2D15C4F5EF	FASTA	501	55,411
	10 20 30 40 50 60 MRLPKLLTFL LWYLAWLDLE FICTVLGAPD LGQRPQGTRP GLAKAEAKER PPLARNVFRP 70 80 90 100 110 120 GGHSYGGGAT NANARAKGGT GQTGGLTQPK KDEPKKLPPR PGGPEPKPGH PPQTRQATAR 130 140 150 160 170 180 TVTPKGQLPG GKAPPKAGSV PSSFLLKKAR EPGPPREPKE PFRPPPITPH EYMLSLYRTL 190 200 210 220 230 240 SDADRKGGNS SVKLEAGLAN TITSFIDKGQ DDRGPVVRKQ RYVFDISALE KDGLLGAELR 250 260 270 280 290 300 ILRKKPSDTA KPAAPGGGRA AQLKLSSCPS GRQPASLLDV RSVPGLDGSG WEVFDIWKLF 310 320 330 340 350 360 RNFKNSAQLC LELEAWERGR AVDLRGLGFD RAARQVHEKA LFLVFGRTKK RDLFFNEIKA 370 380 390 400 410 420 RSGQDDKTVY EYLFSQRRKR RAPLATRQGK RPSKNLKARC SRKALHVNFK DMGWDDWIIA 430 440 450 460 470 480 PLEYEAFHCE GLCEFPLRSH LEPTNHAVIQ TLMNSMDPES TPPTCCVPTR LSPISILFID 490 500 SANNVVYKQY EDMVVESCGC R

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	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. , 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], 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]	"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.
[7]	"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.
[8]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"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.
[13]	"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.
[14]	"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 SYM1 LEU-438, VARIANT BDA2 PRO-441, CHARACTERIZATION OF VARIANT VARIANT SYM1 LEU-438, CHARACTERIZATION OF VARIANT BDA2 PRO-441.
[15]	"GDF5 is a second locus for multiple-synostosis syndrome." Dawson K., Seeman P., Sebald E., King L., Edwards M., Williams J. III, Mundlos S., Krakow D. Am. J. Hum. Genet. 78:708-712(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SYNS2 LEU-438.
[16]	"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 SYM1 LYS-491.
[17]	"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 OSTEOARTHRITIS SUSCEPTIBILITY TYPE 5.
[18]	"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.
[19]	"Brachydactyly type A2 associated with a defect in proGDF5 processing." Ploeger F., Seemann P., Schmidt-von Kegler M., Lehmann K., Seidel J., Kjaer K.W., Pohl J., Mundlos S. Hum. Mol. Genet. 17:1222-1233(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BDA2 GLN-380, CHARACTERIZATION OF VARIANT BDA2 GLN-380.
[20]	"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 SYM1 ARG-373, CHARACTERIZATION OF VARIANT SYM1 ARG-373.
[21]	"Mutations in GDF5 presenting as semidominant brachydactyly A1." Byrnes A.M., Racacho L., Nikkel S.M., Xiao F., MacDonald H., Underhill T.M., Bulman D.E. Hum. Mutat. 31:1155-1162(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BDA1 CYS-399, CHARACTERIZATION OF VARIANT BDA1 CYS-399.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

GDF5 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00015522.

PIR

A55452.
JC2347.

RefSeq

NP_000548.1. NM_000557.2.

UniGene

Hs.1573.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

P43026.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-5823N.

STRING

9606.ENSP00000363489.

PTM databases

PhosphoSite

P43026.

Polymorphism databases

DMDM

20141384.

Proteomic databases

PaxDb

P43026.

PRIDE

P43026.

Protocols and materials databases

DNASU

8200.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000374369; ENSP00000363489; ENSG00000125965.
ENST00000374372; ENSP00000363492; ENSG00000125965.

GeneID

8200.

KEGG

hsa:8200.

UCSC

uc002xck.1. human.

Organism-specific databases

CTD

8200.

GeneCards

GC20M034021.

HGNC

HGNC:4220. GDF5.

HPA

HPA015648.

MIM

112500. phenotype.
112600. phenotype.
113100. phenotype.
185800. phenotype.
200700. phenotype.
201250. phenotype.
228900. phenotype.
601146. gene.
610017. phenotype.
612400. phenotype.

neXtProt

NX_P43026.

Orphanet

2098. Acromesomelic dysplasia, Grebe type.
968. Acromesomelic dysplasia, Hunter-Thomson type.
93396. Brachydactyly type A2.
93384. Brachydactyly type C.
2639. Fibular aplasia - complex brachydactyly.
3237. Multiple synostoses syndrome.
3250. Proximal symphalangism.

PharmGKB

PA28635.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG317866.

HOGENOM

HOG000231514.

HOVERGEN

HBG107938.

InParanoid

P43026.

KO

K04664.

OMA

IDKGQDD.

OrthoDB

EOG4TQM8X.

PhylomeDB

P43026.

Enzyme and pathway databases

Reactome

REACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpress

P43026.

Bgee

P43026.

CleanEx

HS_GDF5.

Genevestigator

P43026.

GermOnline

ENSG00000125965. Homo sapiens.

Family and domain databases

InterPro

IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]

PANTHER

PTHR11848. PTHR11848. 1 hit.

Pfam

PF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]

SMART

SM00204. TGFB. 1 hit.
[Graphical view]

PROSITE

PS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]

ProtoNet

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Other

EvolutionaryTrace

P43026.

GenomeRNAi

8200.

NextBio

30902.

SOURCE

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Entry information

Entry name

GDF5_HUMAN

Accession

Primary (citable) accession number: P43026
Secondary accession number(s): E1P5Q2, Q96SB1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2002
Last modified:	May 1, 2013
This is version 144 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.