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Protein

Embryonic growth/differentiation factor 1

Gene

GDF1

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

Functioni

May mediate cell differentiation events during embryonic development.

GO - Molecular functioni

  1. cytokine activity Source: GO_Central
  2. transforming growth factor beta receptor binding Source: GO_Central

GO - Biological processi

  1. BMP signaling pathway Source: GO_Central
  2. cell development Source: GO_Central
  3. growth Source: InterPro
  4. positive regulation of pathway-restricted SMAD protein phosphorylation Source: GO_Central
  5. regulation of apoptotic process Source: GO_Central
  6. regulation of MAPK cascade Source: GO_Central
  7. SMAD protein signal transduction Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Growth factor

Enzyme and pathway databases

ReactomeiREACT_111057. Signaling by NODAL.
SignaLinkiP27539.

Names & Taxonomyi

Protein namesi
Recommended name:
Embryonic growth/differentiation factor 1
Short name:
GDF-1
Gene namesi
Name:GDF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:4214. GDF1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Conotruncal heart malformations (CTHM)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:217095
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti267 – 2671C → Y in CTHM; double-outlet right ventricle. 1 Publication
VAR_065335
Transposition of the great arteries dextro-looped 3 (DTGA3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:613854
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti318 – 3181A → T in DTGA3. 1 Publication
VAR_065338
Tetralogy of Fallot (TOF)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:187500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621G → D in TOF. 1 Publication
VAR_065333
Natural varianti309 – 3091S → P in TOF. 1 Publication
VAR_065336
Natural varianti312 – 3121P → T in TOF. 1 Publication
VAR_065337
Right atrial isomerism (RAI)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:208530

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi187500. phenotype.
208530. phenotype.
217095. phenotype.
613854. phenotype.
Orphaneti860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
97548. Ivemark syndrome.
3303. Tetralogy of Fallot.
PharmGKBiPA28629.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Sequence AnalysisAdd
BLAST
Propeptidei30 – 253224Sequence AnalysisPRO_0000033898Add
BLAST
Chaini254 – 372119Embryonic growth/differentiation factor 1PRO_0000033899Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi267 ↔ 337By similarity
Disulfide bondi296 ↔ 369By similarity
Disulfide bondi300 ↔ 371By similarity
Disulfide bondi336 – 336InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP27539.
PRIDEiP27539.

PTM databases

PhosphoSiteiP27539.

Expressioni

Tissue specificityi

Expressed in the brain.

Gene expression databases

GenevestigatoriP27539.

Organism-specific databases

HPAiHPA052626.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000247005.

Structurei

3D structure databases

ProteinModelPortaliP27539.
SMRiP27539. Positions 267-372.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi152 – 1587Poly-Ala

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG255568.
GeneTreeiENSGT00760000118883.
HOGENOMiHOG000249476.
HOVERGENiHBG004860.
InParanoidiP27539.
KOiK05495.
OMAiGAAWARN.
OrthoDBiEOG71CFMF.
PhylomeDBiP27539.
TreeFamiTF351789.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
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]
PRINTSiPR00669. INHIBINA.
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.

P27539-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPPPQQGPCG HHLLLLLALL LPSLPLTRAP VPPGPAAALL QALGLRDEPQ
60 70 80 90 100
GAPRLRPVPP VMWRLFRRRD PQETRSGSRR TSPGVTLQPC HVEELGVAGN
110 120 130 140 150
IVRHIPDRGA PTRASEPASA AGHCPEWTVV FDLSAVEPAE RPSRARLELR
160 170 180 190 200
FAAAAAAAPE GGWELSVAQA GQGAGADPGP VLLRQLVPAL GPPVRAELLG
210 220 230 240 250
AAWARNASWP RSLRLALALR PRAPAACARL AEASLLLVTL DPRLCHPLAR
260 270 280 290 300
PRRDAEPVLG GGPGGACRAR RLYVSFREVG WHRWVIAPRG FLANYCQGQC
310 320 330 340 350
ALPVALSGSG GPPALNHAVL RALMHAAAPG AADLPCCVPA RLSPISVLFF
360 370
DNSDNVVLRQ YEDMVVDECG CR
Length:372
Mass (Da):39,475
Last modified:October 16, 2006 - v2
Checksum:i10A4893F063047B9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681R → H in a patient with atrioventricular canal-cleft mitral valve. 1 Publication
VAR_065332
Natural varianti118 – 1181A → V.1 Publication
Corresponds to variant rs4808863 [ dbSNP | Ensembl ].
VAR_028274
Natural varianti162 – 1621G → D in TOF. 1 Publication
VAR_065333
Natural varianti262 – 2621G → S in a patient with Rastelli type atrioventricular canal. 1 Publication
VAR_065334
Natural varianti267 – 2671C → Y in CTHM; double-outlet right ventricle. 1 Publication
VAR_065335
Natural varianti309 – 3091S → P in TOF. 1 Publication
VAR_065336
Natural varianti312 – 3121P → T in TOF. 1 Publication
VAR_065337
Natural varianti318 – 3181A → T in DTGA3. 1 Publication
VAR_065338

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62302 mRNA. Translation: AAA58501.1.
AC003972 Genomic DNA. Translation: AAB94786.1.
CCDSiCCDS42526.1.
PIRiC39364.
RefSeqiNP_001483.3. NM_001492.5.
UniGeneiHs.412355.

Genome annotation databases

EnsembliENST00000247005; ENSP00000247005; ENSG00000130283.
GeneIDi2657.
KEGGihsa:2657.

Polymorphism databases

DMDMi116242492.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62302 mRNA. Translation: AAA58501.1.
AC003972 Genomic DNA. Translation: AAB94786.1.
CCDSiCCDS42526.1.
PIRiC39364.
RefSeqiNP_001483.3. NM_001492.5.
UniGeneiHs.412355.

3D structure databases

ProteinModelPortaliP27539.
SMRiP27539. Positions 267-372.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000247005.

PTM databases

PhosphoSiteiP27539.

Polymorphism databases

DMDMi116242492.

Proteomic databases

PaxDbiP27539.
PRIDEiP27539.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247005; ENSP00000247005; ENSG00000130283.
GeneIDi2657.
KEGGihsa:2657.

Organism-specific databases

CTDi2657.
GeneCardsiGC19M018979.
HGNCiHGNC:4214. GDF1.
HPAiHPA052626.
MIMi187500. phenotype.
208530. phenotype.
217095. phenotype.
602880. gene.
613854. phenotype.
neXtProtiNX_P27539.
Orphaneti860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
97548. Ivemark syndrome.
3303. Tetralogy of Fallot.
PharmGKBiPA28629.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG255568.
GeneTreeiENSGT00760000118883.
HOGENOMiHOG000249476.
HOVERGENiHBG004860.
InParanoidiP27539.
KOiK05495.
OMAiGAAWARN.
OrthoDBiEOG71CFMF.
PhylomeDBiP27539.
TreeFamiTF351789.

Enzyme and pathway databases

ReactomeiREACT_111057. Signaling by NODAL.
SignaLinkiP27539.

Miscellaneous databases

GeneWikiiGDF1.
GenomeRNAii2657.
NextBioi10492.
PROiP27539.
SOURCEiSearch...

Gene expression databases

GenevestigatoriP27539.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
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]
PRINTSiPR00669. INHIBINA.
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1990) [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.
    , 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(2003) [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(2009) [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(2006) [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.

Entry informationi

Entry nameiGDF1_HUMAN
AccessioniPrimary (citable) accession number: P27539
Secondary accession number(s): O43344
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 31, 1992
Last sequence update: October 16, 2006
Last modified: February 3, 2015
This is version 126 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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.