Q9NR23 (GDF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Growth/differentiation factor 3
Short name=GDF-3

Gene names

Name:	GDF3
ORF Names:	UNQ222/PRO248

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	364 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)

Subunit structure	Homodimer or heterodimer Potential. But, in contrast to other members of this family, cannot be disulfide-linked.
Subcellular location	Secreted Probable.
Involvement in disease	Klippel-Feil syndrome 3 (KFS3) [MIM:613702]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the TGF-beta family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Microphthalmia
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	endoderm development Inferred from electronic annotation. Source: Compara eye development Inferred from mutant phenotype Ref.4. Source: UniProtKB formation of anatomical boundary Inferred from electronic annotation. Source: Compara growth Inferred from electronic annotation. Source: InterPro in utero embryonic development Inferred from electronic annotation. Source: Compara mesoderm development Inferred from electronic annotation. Source: Compara notochord development Inferred from electronic annotation. Source: Compara primitive streak formation Inferred from electronic annotation. Source: Compara response to dietary excess Inferred from electronic annotation. Source: Compara signal transduction Inferred from electronic annotation. Source: Compara skeletal system development Inferred from mutant phenotype Ref.4. Source: UniProtKB somite rostral/caudal axis specification Inferred from electronic annotation. Source: Compara
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 – 24	24	Potential
	Propeptide	25 – 250	226	Potential		PRO_0000033908
	Chain	251 – 364	114	Growth/differentiation factor 3		PRO_0000033909
Amino acid modifications
	Glycosylation	112	1	N-linked (GlcNAc...) Potential
	Glycosylation	306	1	N-linked (GlcNAc...) Potential
	Disulfide bond	264 ↔ 329		By similarity
	Disulfide bond	293 ↔ 361		By similarity
	Disulfide bond	297 ↔ 363		By similarity
Natural variations
	Natural variant	195	1	R → Q in MCOP7. Ref.4		VAR_065147
	Natural variant	213	1	G → R. Ref.3 Corresponds to variant rs12819884 [ dbSNP | Ensembl ].		VAR_052574
	Natural variant	266	1	R → C in KFS3 and MCOPCB6. Ref.4		VAR_065148
	Natural variant	274	1	R → W in MCOPCB6. Ref.4		VAR_065149
	Natural variant	305	1	L → P in MCOP7; also detected in a patient with bilateral iris coloboma. Ref.4		VAR_065150
	Natural variant	328	1	V → L. Corresponds to variant rs2302516 [ dbSNP | Ensembl ].		VAR_020064

Sequences

	Sequence		Length	Mass (Da)
	Q9NR23 [UniParc]. Last modified April 13, 2004. Version 3. Checksum: E0D2EA86E2B73A0B	FASTA	364	41,387
	10 20 30 40 50 60 MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI LKKIFQDREA 70 80 90 100 110 120 AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ ASSCLQKLLY FNLSAIKERE 130 140 150 160 170 180 QLTLAQLGLD LGPNSYYNLG PELELALFLV QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH 190 200 210 220 230 240 FNLLDVAKDW NDNPRKNFGL FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP 250 260 270 280 290 300 DQCHPSRKRR AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS 310 320 330 340 350 360 LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL RHYEDMVVDE CGCG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Transcripts in human map region 12p13.3." Lorenz B., White K.E., Econs M.J., Strom T.M. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-213. Tissue: Kidney.
[4]	"Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies." Ye M., Berry-Wynne K.M., Asai-Coakwell M., Sundaresan P., Footz T., French C.R., Abitbol M., Fleisch V.C., Corbett N., Allison W.T., Drummond G., Walter M.A., Underhill T.M., Waskiewicz A.J., Lehmann O.J. Hum. Mol. Genet. 19:287-298(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT KFS3 CYS-266, VARIANTS MCOP7 GLN-195 AND PRO-305, VARIANTS MCOPCB6 CYS-266 AND TRP-274.
+	Additional computationally mapped references.

Web resources

Wikipedia

GDF3 entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF263538 mRNA. Translation: AAF91389.1. AY358875 mRNA. Translation: AAQ89234.1. BC030959 mRNA. Translation: AAH30959.1.
IPI	IPI00299659.
RefSeq	NP_065685.1. NM_020634.1.
UniGene	Hs.86232.
3D structure databases
ProteinModelPortal	Q9NR23.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000331745.
PTM databases
PhosphoSite	Q9NR23.
Polymorphism databases
DMDM	46397885.
Proteomic databases
PaxDb	Q9NR23.
PRIDE	Q9NR23.
Protocols and materials databases
DNASU	9573.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329913; ENSP00000331745; ENSG00000184344.
GeneID	9573.
KEGG	hsa:9573.
UCSC	uc001qte.3. human.
Organism-specific databases
CTD	9573.
GeneCards	GC12M007842.
HGNC	HGNC:4218. GDF3.
HPA	HPA018468.
MIM	606522. gene. 613702. phenotype. 613703. phenotype. 613704. phenotype.
neXtProt	NX_Q9NR23.
Orphanet	98938. Colobomatous microphthalmia. 2542. Isolated anophthalmia - microphthalmia. 2345. Isolated Klippel-Feil syndrome.
PharmGKB	PA28633.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG255568.
HOGENOM	HOG000249476.
HOVERGEN	HBG004860.
InParanoid	Q9NR23.
KO	K05495.
OMA	YFNLSAI.
OrthoDB	EOG4VMFFX.
PhylomeDB	Q9NR23.
Gene expression databases
Bgee	Q9NR23.
CleanEx	HS_GDF3.
Genevestigator	Q9NR23.
GermOnline	ENSG00000184344. 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	9573.
NextBio	35903.
SOURCE	Search...

Entry information

Entry name

GDF3_HUMAN

Accession

Primary (citable) accession number: Q9NR23
Secondary accession number(s): Q8NEJ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	April 13, 2004
Last modified:	May 1, 2013
This is version 108 of the entry and version 3 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.