GDF1

Growth differentiation factor 1 (GDF1) is a protein that in humans is encoded by the GDF1 gene.

GDF1
Identifiers
Aliases	GDF1, DORV, DTGA3, RAI, growth differentiation factor 1, CHTD6, UOG1, LASS1, CERS1, LAG1
External IDs	OMIM: 602880; MGI: 95683; HomoloGene: 105644; GeneCards: GDF1; OMA:GDF1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.11 Start 18,868,545 bp End 18,896,158 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B3.3 Start 70,782,467 bp End 70,784,237 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in primary visual cortex sural nerve superior frontal gyrus ganglionic eminence skeletal muscle tissue prefrontal cortex muscle of thigh sensory nervous system sensory organ face Top expressed in striatum of neuraxis epiblast embryo embryo superior frontal gyrus lateral plate mesoderm embryonic organizer adrenal gland notochord cerebellar cortex More reference expression data BioGPS n/a
Gene ontology Molecular function transforming growth factor beta receptor binding cytokine activity growth factor activity Cellular component extracellular region extracellular space Biological process regulation of apoptotic process positive regulation of pathway-restricted SMAD protein phosphorylation regulation of MAPK cascade SMAD protein signal transduction cell development BMP signaling pathway regulation of signaling receptor activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2657 14559 Ensembl ENSG00000130283 ENSMUSG00000109523 UniProt P27539 P20863 RefSeq (mRNA) NM_001492 NM_001387438 NM_001163282 NM_008107 RefSeq (protein) NP_001483 NP_001156754 NP_032133 Location (UCSC) Chr 19: 18.87 – 18.9 Mb Chr 8: 70.78 – 70.78 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

GDF1 belongs to the transforming growth factor beta superfamily that has a role in left-right patterning and mesoderm induction during embryonic development. It is found in the brain, spinal cord and peripheral nerves of embryos.

Further reading

• Jiang JC, Kirchman PA, Zagulski M, et al. (1998). "Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human". Genome Res. 8 (12): 1259–72. doi:10.1101/gr.8.12.1259. PMID 9872981.
• Lee SJ (1990). "Identification of a novel member (GDF-1) of the transforming growth factor-beta superfamily". Mol. Endocrinol. 4 (7): 1034–40. doi:10.1210/mend-4-7-1034. PMID 1704486.
• Li J, Jia H, Xie L, et al. (2009). "Correlation of inhibitor of differentiation 1 expression to tumor progression, poor differentiation and aggressive behaviors in cervical carcinoma". Gynecol. Oncol. 114 (1): 89–93. doi:10.1016/j.ygyno.2009.03.016. PMID 19359031.
• Ducy P, Karsenty G (2000). "The family of bone morphogenetic proteins". Kidney Int. 57 (6): 2207–14. doi:10.1046/j.1523-1755.2000.00081.x. PMID 10844590.
• Lee SJ (1991). "Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure". Proc. Natl. Acad. Sci. U.S.A. 88 (10): 4250–4. Bibcode:1991PNAS...88.4250L. doi:10.1073/pnas.88.10.4250. PMC 51636. PMID 2034669.
• Roessler E, Pei W, Ouspenskaia MV, et al. (2009). "Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly". Mol. Genet. Metab. 98 (1–2): 225–34. doi:10.1016/j.ymgme.2009.05.005. PMC 2774839. PMID 19553149.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
• Karkera JD, Lee JS, Roessler E, et al. (2007). "Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans". Am. J. Hum. Genet. 81 (5): 987–94. doi:10.1086/522890. PMC 2265655. PMID 17924340.
• Polymeropoulos MH, Xiao H, Sikela JM, et al. (1993). "Chromosomal distribution of 320 genes from a brain cDNA library". Nat. Genet. 4 (4): 381–6. doi:10.1038/ng0893-381. PMID 8401586. S2CID 33426184.