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P27539

- GDF1_HUMAN

UniProt

P27539 - GDF1_HUMAN

Protein

Embryonic growth/differentiation factor 1

Gene

GDF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    May mediate cell differentiation events during embryonic development.

    GO - Biological processi

    1. growth Source: InterPro

    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: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:4214. GDF1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB-KW

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti318 – 3181A → T in DTGA3. 1 Publication
    VAR_065338
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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.
    HOGENOMiHOG000249476.
    HOVERGENiHBG004860.
    InParanoidiP27539.
    KOiK05495.
    OMAiLRPCHVE.
    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

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    MPPPQQGPCG HHLLLLLALL LPSLPLTRAP VPPGPAAALL QALGLRDEPQ    50
    GAPRLRPVPP VMWRLFRRRD PQETRSGSRR TSPGVTLQPC HVEELGVAGN 100
    IVRHIPDRGA PTRASEPASA AGHCPEWTVV FDLSAVEPAE RPSRARLELR 150
    FAAAAAAAPE GGWELSVAQA GQGAGADPGP VLLRQLVPAL GPPVRAELLG 200
    AAWARNASWP RSLRLALALR PRAPAACARL AEASLLLVTL DPRLCHPLAR 250
    PRRDAEPVLG GGPGGACRAR RLYVSFREVG WHRWVIAPRG FLANYCQGQC 300
    ALPVALSGSG GPPALNHAVL RALMHAAAPG AADLPCCVPA RLSPISVLFF 350
    DNSDNVVLRQ YEDMVVDECG CR 372
    Length:372
    Mass (Da):39,475
    Last modified:October 17, 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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M62302 mRNA. Translation: AAA58501.1 .
    AC003972 Genomic DNA. Translation: AAB94786.1 .
    CCDSi CCDS42526.1.
    PIRi C39364.
    RefSeqi NP_001483.3. NM_001492.5.
    UniGenei Hs.412355.

    3D structure databases

    ProteinModelPortali P27539.
    SMRi P27539. Positions 267-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000247005.

    PTM databases

    PhosphoSitei P27539.

    Polymorphism databases

    DMDMi 116242492.

    Proteomic databases

    PaxDbi P27539.
    PRIDEi P27539.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000247005 ; ENSP00000247005 ; ENSG00000130283 .
    GeneIDi 2657.
    KEGGi hsa:2657.

    Organism-specific databases

    CTDi 2657.
    GeneCardsi GC19M018979.
    HGNCi HGNC:4214. GDF1.
    HPAi HPA052626.
    MIMi 187500. phenotype.
    208530. phenotype.
    217095. phenotype.
    602880. gene.
    613854. phenotype.
    neXtProti NX_P27539.
    Orphaneti 860. Congenitally uncorrected transposition of the great arteries.
    3426. Double outlet right ventricle.
    97548. Ivemark syndrome.
    3303. Tetralogy of Fallot.
    PharmGKBi PA28629.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG255568.
    HOGENOMi HOG000249476.
    HOVERGENi HBG004860.
    InParanoidi P27539.
    KOi K05495.
    OMAi LRPCHVE.
    OrthoDBi EOG71CFMF.
    PhylomeDBi P27539.
    TreeFami TF351789.

    Enzyme and pathway databases

    Reactomei REACT_111057. Signaling by NODAL.
    SignaLinki P27539.

    Miscellaneous databases

    GeneWikii GDF1.
    GenomeRNAii 2657.
    NextBioi 10492.
    PROi P27539.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori P27539.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    IPR002405. Inhibin_asu.
    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 ]
    PRINTSi PR00669. INHIBINA.
    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

    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.
      , 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.

    Entry informationi

    Entry nameiGDF1_HUMAN
    AccessioniPrimary (citable) accession number: P27539
    Secondary accession number(s): O43344
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1992
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 123 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