P27539 (GDF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Embryonic growth/differentiation factor 1
Short name=GDF-1

Gene names

Name:

GDF1

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	372 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	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.3 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.3 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.3
Miscellaneous	This protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame.
Sequence similarities	Belongs to the TGF-beta family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal
Molecular function	Cytokine Growth factor
PTM	Cleavage on pair of basic residues Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	growth Inferred from electronic annotation. Source: InterPro
Cellular_component	extracellular space Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Propeptide	30 – 253	224	Potential		PRO_0000033898
	Chain	254 – 372	119	Embryonic growth/differentiation factor 1		PRO_0000033899
Regions
	Compositional bias	152 – 158	7	Poly-Ala
Amino acid modifications
	Glycosylation	206	1	N-linked (GlcNAc...) Potential
	Disulfide bond	267 ↔ 337		By similarity
	Disulfide bond	296 ↔ 369		By similarity
	Disulfide bond	300 ↔ 371		By similarity
	Disulfide bond	336		Interchain By similarity
Natural variations
	Natural variant	68	1	R → H in a patient with atrioventricular canal-cleft mitral valve. Ref.3		VAR_065332
	Natural variant	118	1	A → V. Ref.1 Corresponds to variant rs4808863 [ dbSNP | Ensembl ].		VAR_028274
	Natural variant	162	1	G → D in TOF. Ref.3		VAR_065333
	Natural variant	262	1	G → S in a patient with Rastelli type atrioventricular canal. Ref.3		VAR_065334
	Natural variant	267	1	C → Y in CTHM; double-outlet right ventricle. Ref.3		VAR_065335
	Natural variant	309	1	S → P in TOF. Ref.3		VAR_065336
	Natural variant	312	1	P → T in TOF. Ref.3		VAR_065337
	Natural variant	318	1	A → T in DTGA3. Ref.3		VAR_065338

Sequences

	Sequence		Length	Mass (Da)
	P27539 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 10A4893F063047B9	FASTA	372	39,475
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
IPI	IPI00019442.
PIR	C39364.
RefSeq	NP_001483.3. NM_001492.4.
UniGene	Hs.412355.
3D structure databases
ProteinModelPortal	P27539.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000247005.
PTM databases
PhosphoSite	P27539.
Polymorphism databases
DMDM	116242492.
Proteomic databases
PaxDb	P27539.
PRIDE	P27539.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000247005; ENSP00000247005; ENSG00000130283.
GeneID	2657.
KEGG	hsa:2657.
Organism-specific databases
CTD	2657.
GeneCards	GC19M018979.
HGNC	HGNC:4214. GDF1.
HPA	HPA052626.
MIM	187500. phenotype. 217095. phenotype. 602880. gene. 613854. phenotype.
neXtProt	NX_P27539.
Orphanet	860. Congenitally uncorrected transposition of the great arteries. 2445. Conotruncal heart malformations. 3426. Double outlet right ventricle. 3303. Tetralogy of Fallot.
PharmGKB	PA28629.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG255568.
HOGENOM	HOG000249476.
HOVERGEN	HBG004860.
InParanoid	P27539.
KO	K05495.
OMA	GAAWARN.
OrthoDB	EOG4VMFFX.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
Genevestigator	P27539.
GermOnline	ENSG00000130283. Homo sapiens.
Family and domain databases
InterPro	IPR002405. Inhibin_asu. 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]
PRINTS	PR00669. INHIBINA.
SMART	SM00204. TGFB. 1 hit. [Graphical view]
PROSITE	PS00250. TGF_BETA_1. 1 hit. PS51362. TGF_BETA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2657.
NextBio	10492.
SOURCE	Search...

Entry information

Entry name

GDF1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 110 of the entry and version 2 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.