Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P27539 (GDF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 117. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Embryonic growth/differentiation factor 1

Short name=GDF-1
Gene names
Name:GDF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length372 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May mediate cell differentiation events during embryonic development.

Subunit structure

Homodimer; disulfide-linked By similarity.

Subcellular location

Secreted.

Tissue specificity

Expressed in the brain.

Involvement in disease

Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Right atrial isomerism (RAI) [MIM:208530]: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Miscellaneous

This protein is produced by a bicistronic gene which also produces the CERS1 protein from a non-overlapping reading frame.

Sequence similarities

Belongs to the TGF-beta family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainSignal
   Molecular functionCytokine
Growth factor
   PTMCleavage on pair of basic residues
Disulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processgrowth

Inferred from electronic annotation. Source: InterPro

   Cellular_componentextracellular space

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Propeptide30 – 253224 Potential
PRO_0000033898
Chain254 – 372119Embryonic growth/differentiation factor 1
PRO_0000033899

Regions

Compositional bias152 – 1587Poly-Ala

Amino acid modifications

Glycosylation2061N-linked (GlcNAc...) Potential
Disulfide bond267 ↔ 337 By similarity
Disulfide bond296 ↔ 369 By similarity
Disulfide bond300 ↔ 371 By similarity
Disulfide bond336Interchain By similarity

Natural variations

Natural variant681R → H in a patient with atrioventricular canal-cleft mitral valve. Ref.4
VAR_065332
Natural variant1181A → V. Ref.1
Corresponds to variant rs4808863 [ dbSNP | Ensembl ].
VAR_028274
Natural variant1621G → D in TOF. Ref.4
VAR_065333
Natural variant2621G → S in a patient with Rastelli type atrioventricular canal. Ref.4
VAR_065334
Natural variant2671C → Y in CTHM; double-outlet right ventricle. Ref.4
VAR_065335
Natural variant3091S → P in TOF. Ref.4
VAR_065336
Natural variant3121P → T in TOF. Ref.4
VAR_065337
Natural variant3181A → T in DTGA3. Ref.4
VAR_065338

Sequences

Sequence LengthMass (Da)Tools
P27539 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 10A4893F063047B9

FASTA37239,475
        10         20         30         40         50         60 
MPPPQQGPCG HHLLLLLALL LPSLPLTRAP VPPGPAAALL QALGLRDEPQ GAPRLRPVPP 

        70         80         90        100        110        120 
VMWRLFRRRD PQETRSGSRR TSPGVTLQPC HVEELGVAGN IVRHIPDRGA PTRASEPASA 

       130        140        150        160        170        180 
AGHCPEWTVV FDLSAVEPAE RPSRARLELR FAAAAAAAPE GGWELSVAQA GQGAGADPGP 

       190        200        210        220        230        240 
VLLRQLVPAL GPPVRAELLG AAWARNASWP RSLRLALALR PRAPAACARL AEASLLLVTL 

       250        260        270        280        290        300 
DPRLCHPLAR PRRDAEPVLG GGPGGACRAR RLYVSFREVG WHRWVIAPRG FLANYCQGQC 

       310        320        330        340        350        360 
ALPVALSGSG GPPALNHAVL RALMHAAAPG AADLPCCVPA RLSPISVLFF DNSDNVVLRQ 

       370 
YEDMVVDECG CR 

« Hide

References

« Hide 'large scale' references
[1]"Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure."
Lee S.-J.
Proc. Natl. Acad. Sci. U.S.A. 88:4250-4254(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-118.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)."
Kaasinen E., Aittomaki K., Eronen M., Vahteristo P., Karhu A., Mecklin J.P., Kajantie E., Aaltonen L.A., Lehtonen R.
Hum. Mol. Genet. 19:2747-2753(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RAI.
[4]"Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans."
Karkera J.D., Lee J.S., Roessler E., Banerjee-Basu S., Ouspenskaia M.V., Mez J., Goldmuntz E., Bowers P., Towbin J., Belmont J.W., Baxevanis A.D., Schier A.F., Muenke M.
Am. J. Hum. Genet. 81:987-994(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TOF ASP-162; PRO-309 AND THR-312, VARIANT CTHM TYR-267, VARIANT DTGA3 THR-318, VARIANTS HIS-68 AND SER-262.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M62302 mRNA. Translation: AAA58501.1.
AC003972 Genomic DNA. Translation: AAB94786.1.
PIRC39364.
RefSeqNP_001483.3. NM_001492.4.
UniGeneHs.412355.

3D structure databases

ProteinModelPortalP27539.
SMRP27539. Positions 267-372.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000247005.

PTM databases

PhosphoSiteP27539.

Polymorphism databases

DMDM116242492.

Proteomic databases

PaxDbP27539.
PRIDEP27539.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000247005; ENSP00000247005; ENSG00000130283.
GeneID2657.
KEGGhsa:2657.

Organism-specific databases

CTD2657.
GeneCardsGC19M018979.
HGNCHGNC:4214. GDF1.
HPAHPA052626.
MIM187500. phenotype.
208530. phenotype.
217095. phenotype.
602880. gene.
613854. phenotype.
neXtProtNX_P27539.
Orphanet860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
3303. Tetralogy of Fallot.
PharmGKBPA28629.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255568.
HOGENOMHOG000249476.
HOVERGENHBG004860.
InParanoidP27539.
KOK05495.
OMALRPCHVE.
OrthoDBEOG71CFMF.
TreeFamTF351789.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
SignaLinkP27539.

Gene expression databases

GenevestigatorP27539.

Family and domain databases

InterProIPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERPTHR11848. PTHR11848. 1 hit.
PfamPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
PRINTSPR00669. INHIBINA.
SMARTSM00204. TGFB. 1 hit.
[Graphical view]
PROSITEPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGDF1.
GenomeRNAi2657.
NextBio10492.
PROP27539.
SOURCESearch...

Entry information

Entry nameGDF1_HUMAN
AccessionPrimary (citable) accession number: P27539
Secondary accession number(s): O43344
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: October 17, 2006
Last modified: February 19, 2014
This is version 117 of the entry and version 2 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 19

Human chromosome 19: entries, gene names and cross-references to MIM