GDF7_HUMAN
ID GDF7_HUMAN Reviewed; 450 AA.
AC Q7Z4P5;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Growth/differentiation factor 7;
DE Short=GDF-7;
DE Flags: Precursor;
GN Name=GDF7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RA Guo J.H., Yu L.;
RL Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- FUNCTION: May play an active role in the motor area of the primate
CC neocortex. {ECO:0000250}.
CC -!- SUBUNIT: Homodimer; disulfide-linked. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the TGF-beta family. {ECO:0000305}.
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DR EMBL; AF522369; AAP97720.1; -; mRNA.
DR EMBL; AC012065; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS1701.1; -.
DR RefSeq; NP_878248.2; NM_182828.3.
DR AlphaFoldDB; Q7Z4P5; -.
DR STRING; 9606.ENSP00000272224; -.
DR GlyGen; Q7Z4P5; 1 site.
DR iPTMnet; Q7Z4P5; -.
DR PhosphoSitePlus; Q7Z4P5; -.
DR BioMuta; GDF7; -.
DR DMDM; 296434517; -.
DR jPOST; Q7Z4P5; -.
DR MassIVE; Q7Z4P5; -.
DR PaxDb; Q7Z4P5; -.
DR PeptideAtlas; Q7Z4P5; -.
DR PRIDE; Q7Z4P5; -.
DR ProteomicsDB; 69219; -.
DR Antibodypedia; 27314; 266 antibodies from 28 providers.
DR DNASU; 151449; -.
DR Ensembl; ENST00000272224.5; ENSP00000272224.3; ENSG00000143869.7.
DR GeneID; 151449; -.
DR KEGG; hsa:151449; -.
DR MANE-Select; ENST00000272224.5; ENSP00000272224.3; NM_182828.4; NP_878248.2.
DR UCSC; uc002rdz.2; human.
DR CTD; 151449; -.
DR DisGeNET; 151449; -.
DR GeneCards; GDF7; -.
DR HGNC; HGNC:4222; GDF7.
DR HPA; ENSG00000143869; Tissue enhanced (cervix, seminal vesicle).
DR MIM; 604651; gene.
DR neXtProt; NX_Q7Z4P5; -.
DR OpenTargets; ENSG00000143869; -.
DR PharmGKB; PA28637; -.
DR VEuPathDB; HostDB:ENSG00000143869; -.
DR eggNOG; KOG3900; Eukaryota.
DR GeneTree; ENSGT00940000160140; -.
DR HOGENOM; CLU_020515_0_1_1; -.
DR InParanoid; Q7Z4P5; -.
DR OMA; GARWEVF; -.
DR OrthoDB; 749511at2759; -.
DR PhylomeDB; Q7Z4P5; -.
DR TreeFam; TF316134; -.
DR PathwayCommons; Q7Z4P5; -.
DR SignaLink; Q7Z4P5; -.
DR BioGRID-ORCS; 151449; 15 hits in 1066 CRISPR screens.
DR GeneWiki; GDF7; -.
DR GenomeRNAi; 151449; -.
DR Pharos; Q7Z4P5; Tbio.
DR PRO; PR:Q7Z4P5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q7Z4P5; protein.
DR Bgee; ENSG00000143869; Expressed in seminal vesicle and 128 other tissues.
DR Genevisible; Q7Z4P5; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005125; F:cytokine activity; IBA:GO_Central.
DR GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0032924; P:activin receptor signaling pathway; IDA:BHF-UCL.
DR GO; GO:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0030509; P:BMP signaling pathway; IDA:BHF-UCL.
DR GO; GO:0048754; P:branching morphogenesis of an epithelial tube; IEA:Ensembl.
DR GO; GO:0045165; P:cell fate commitment; IEA:Ensembl.
DR GO; GO:0030855; P:epithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0048853; P:forebrain morphogenesis; IEA:Ensembl.
DR GO; GO:0022612; P:gland morphogenesis; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; IEA:Ensembl.
DR GO; GO:0060571; P:morphogenesis of an epithelial fold; IEA:Ensembl.
DR GO; GO:0060389; P:pathway-restricted SMAD protein phosphorylation; IDA:BHF-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0010862; P:positive regulation of pathway-restricted SMAD protein phosphorylation; IDA:BHF-UCL.
DR GO; GO:2001051; P:positive regulation of tendon cell differentiation; IEA:Ensembl.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:BHF-UCL.
DR GO; GO:0048608; P:reproductive structure development; IEA:Ensembl.
DR GO; GO:0021509; P:roof plate formation; IEA:Ensembl.
DR GO; GO:0060395; P:SMAD protein signal transduction; IBA:GO_Central.
DR GO; GO:0021527; P:spinal cord association neuron differentiation; IEA:Ensembl.
DR Gene3D; 2.10.90.10; -; 1.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR001839; TGF-b_C.
DR InterPro; IPR001111; TGF-b_propeptide.
DR InterPro; IPR015615; TGF-beta-rel.
DR InterPro; IPR017948; TGFb_CS.
DR PANTHER; PTHR11848; PTHR11848; 1.
DR Pfam; PF00019; TGF_beta; 1.
DR Pfam; PF00688; TGFb_propeptide; 1.
DR SMART; SM00204; TGFB; 1.
DR SUPFAM; SSF57501; SSF57501; 1.
DR PROSITE; PS00250; TGF_BETA_1; 1.
DR PROSITE; PS51362; TGF_BETA_2; 1.
PE 2: Evidence at transcript level;
KW Cleavage on pair of basic residues; Cytokine; Disulfide bond; Glycoprotein;
KW Growth factor; Reference proteome; Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT PROPEP 20..321
FT /evidence="ECO:0000255"
FT /id="PRO_0000033922"
FT CHAIN 322..450
FT /note="Growth/differentiation factor 7"
FT /id="PRO_0000033923"
FT REGION 296..349
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 83
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 349..415
FT /evidence="ECO:0000250"
FT DISULFID 378..447
FT /evidence="ECO:0000250"
FT DISULFID 382..449
FT /evidence="ECO:0000250"
FT DISULFID 414
FT /note="Interchain"
FT /evidence="ECO:0000250"
FT CONFLICT 330
FT /note="A -> S (in Ref. 1; AAP97720)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 450 AA; 46950 MW; C7D4D417685D25BD CRC64;
MDLSAAAALC LWLLSACRPR DGLEAAAVLR AAGAGPVRSP GGGGGGGGGG RTLAQAAGAA
AVPAAAVPRA RAARRAAGSG FRNGSVVPHH FMMSLYRSLA GRAPAGAAAV SASGHGRADT
ITGFTDQATQ DESAAETGQS FLFDVSSLND ADEVVGAELR VLRRGSPESG PGSWTSPPLL
LLSTCPGAAR APRLLYSRAA EPLVGQRWEA FDVADAMRRH RREPRPPRAF CLLLRAVAGP
VPSPLALRRL GFGWPGGGGS AAEERAVLVV SSRTQRKESL FREIRAQARA LGAALASEPL
PDPGTGTASP RAVIGGRRRR RTALAGTRTA QGSGGGAGRG HGRRGRSRCS RKPLHVDFKE
LGWDDWIIAP LDYEAYHCEG LCDFPLRSHL EPTNHAIIQT LLNSMAPDAA PASCCVPARL
SPISILYIDA ANNVVYKQYE DMVVEACGCR
