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Entry version 164 (11 Dec 2019)
Sequence version 2 (17 Oct 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May mediate cell differentiation events during embryonic development.

Miscellaneous

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCytokine, Growth factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1181150 Signaling by NODAL

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P27539

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Embryonic growth/differentiation factor 1
Short name:
GDF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130283.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4214 GDF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602880 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P27539

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065335267C → Y in CTHM; double-outlet right ventricle. 1 PublicationCorresponds to variant dbSNP:rs121434423EnsemblClinVar.1
Congenital heart defects, multiple types, 6 (CHTD6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080779227 – 372Missing in CHTD6 and RAI. 3 PublicationsAdd BLAST146
Natural variantiVAR_065338318A → T in CHTD6. 1 PublicationCorresponds to variant dbSNP:rs1064793138EnsemblClinVar.1
Natural variantiVAR_080780364M → T in CHTD6. 1 PublicationCorresponds to variant dbSNP:rs374016704EnsemblClinVar.1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065333162G → D in TOF. 1 PublicationCorresponds to variant dbSNP:rs121434424EnsemblClinVar.1
Natural variantiVAR_065336309S → P in TOF. 1 PublicationCorresponds to variant dbSNP:rs864622513EnsemblClinVar.1
Natural variantiVAR_065337312P → T in TOF. 1 Publication1
Right atrial isomerism (RAI)2 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080779227 – 372Missing in CHTD6 and RAI. 3 PublicationsAdd BLAST146
Natural variantiVAR_080781364Missing in RAI. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2657

MalaCards human disease database

More...
MalaCardsi
GDF1
MIMi187500 phenotype
208530 phenotype
217095 phenotype
613854 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130283
ENSG00000223802

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
860 Congenitally uncorrected transposition of the great arteries
97548 Ivemark syndrome
3303 Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28629

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P27539 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GDF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242492

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003389830 – 253Sequence analysisAdd BLAST224
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000033899254 – 372Embryonic growth/differentiation factor 1Add BLAST119

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi267 ↔ 337By similarity
Disulfide bondi296 ↔ 369By similarity
Disulfide bondi300 ↔ 371By similarity
Disulfide bondi336InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P27539

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P27539

PeptideAtlas

More...
PeptideAtlasi
P27539

PRoteomics IDEntifications database

More...
PRIDEi
P27539

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
54397

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P27539

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P27539

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130283 Expressed in 57 organ(s), highest expression level in substantia nigra

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P27539 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
P27539, 1 interactor

Molecular INTeraction database

More...
MINTi
P27539

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000485582

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P27539 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi152 – 158Poly-Ala7

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3900 Eukaryota
ENOG410XT8Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162926

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000249476

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P27539

KEGG Orthology (KO)

More...
KOi
K05495

Identification of Orthologs from Complete Genome Data

More...
OMAi
HYQDMVV

Database of Orthologous Groups

More...
OrthoDBi
562214at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P27539

TreeFam database of animal gene trees

More...
TreeFami
TF351789

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

The PANTHER Classification System

More...
PANTHERi
PTHR11848 PTHR11848, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00019 TGF_beta, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00204 TGFB, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57501 SSF57501, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i10A4893F063047B9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06533268R → H Found in a patient with atrioventricular canal-cleft mitral valve; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763822282EnsemblClinVar.1
Natural variantiVAR_028274118A → V1 PublicationCorresponds to variant dbSNP:rs4808863EnsemblClinVar.1
Natural variantiVAR_065333162G → D in TOF. 1 PublicationCorresponds to variant dbSNP:rs121434424EnsemblClinVar.1
Natural variantiVAR_080779227 – 372Missing in CHTD6 and RAI. 3 PublicationsAdd BLAST146
Natural variantiVAR_065334262G → S in a patient with Rastelli type atrioventricular canal. 1 Publication1
Natural variantiVAR_065335267C → Y in CTHM; double-outlet right ventricle. 1 PublicationCorresponds to variant dbSNP:rs121434423EnsemblClinVar.1
Natural variantiVAR_065336309S → P in TOF. 1 PublicationCorresponds to variant dbSNP:rs864622513EnsemblClinVar.1
Natural variantiVAR_065337312P → T in TOF. 1 Publication1
Natural variantiVAR_065338318A → T in CHTD6. 1 PublicationCorresponds to variant dbSNP:rs1064793138EnsemblClinVar.1
Natural variantiVAR_080780364M → T in CHTD6. 1 PublicationCorresponds to variant dbSNP:rs374016704EnsemblClinVar.1
Natural variantiVAR_080781364Missing in RAI. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M62302 mRNA Translation: AAA58501.1
AC003972 Genomic DNA Translation: AAB94786.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42526.1

Protein sequence database of the Protein Information Resource

More...
PIRi
C39364

NCBI Reference Sequences

More...
RefSeqi
NP_001483.3, NM_001492.5

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000247005; ENSP00000247005; ENSG00000130283

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2657

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2657

UCSC genome browser

More...
UCSCi
uc060vuk.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiP27539, 1 interactor
MINTiP27539
STRINGi9606.ENSP00000485582

PTM databases

iPTMnetiP27539
PhosphoSitePlusiP27539

Polymorphism and mutation databases

BioMutaiGDF1
DMDMi116242492

Proteomic databases

EPDiP27539
PaxDbiP27539
PeptideAtlasiP27539
PRIDEiP27539
ProteomicsDBi54397

Genome annotation databases

EnsembliENST00000247005; ENSP00000247005; ENSG00000130283
GeneIDi2657
KEGGihsa:2657
UCSCiuc060vuk.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2657
DisGeNETi2657
EuPathDBiHostDB:ENSG00000130283.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GDF1
HGNCiHGNC:4214 GDF1
MalaCardsiGDF1
MIMi187500 phenotype
208530 phenotype
217095 phenotype
602880 gene
613854 phenotype
neXtProtiNX_P27539
OpenTargetsiENSG00000130283
ENSG00000223802
Orphaneti860 Congenitally uncorrected transposition of the great arteries
97548 Ivemark syndrome
3303 Tetralogy of Fallot
PharmGKBiPA28629

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00940000162926
HOGENOMiHOG000249476
InParanoidiP27539
KOiK05495
OMAiHYQDMVV
OrthoDBi562214at2759
PhylomeDBiP27539
TreeFamiTF351789

Enzyme and pathway databases

ReactomeiR-HSA-1181150 Signaling by NODAL
SignaLinkiP27539

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GDF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2657
PharosiP27539 Tbio

Protein Ontology

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PROi
PR:P27539
RNActiP27539 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000130283 Expressed in 57 organ(s), highest expression level in substantia nigra
GenevisibleiP27539 HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P27539
Secondary accession number(s): O43344
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: October 17, 2006
Last modified: December 11, 2019
This is version 164 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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