GDF1

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
Gene location (Human)
Chr.	Chromosome 19 (human)[1]
End	18,896,158 bp[1]
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)[2]
End	70,784,237 bp[2]
RNA expression pattern
	Top expressed in
	sural nerve; ; superior frontal gyrus; ; ganglionic eminence; ; skeletal muscle tissue; ; prefrontal cortex; ; sensory nervous system; ; sensory organ; ; face; ; Brodmann area 9; ; gastrocnemius muscle;
	Top expressed in
	superior frontal gyrus; ; adrenal gland; ; notochord; ; cerebellar cortex; ; urinary bladder; ; yolk sac; ; white adipose tissue; ; ganglionic eminence; ; limb; ; islet of Langerhans;
	More reference expression data
	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
	2657
	14559
	ENSG00000130283
	ENSMUSG00000109523
	P27539
	P20863
	NM_001492; NM_001387438
	NM_001163282; NM_008107
	NP_001483
	NP_001156754; NP_032133
	Wikidata
View/Edit Human	View/Edit Mouse

Growth differentiation factor 1 (GDF1) is a protein that in humans is encoded by the GDF1 gene.[5]

GDF1 belongs to the transforming growth factor beta superfamily that has a role in left-right patterning and mesoderm induction during embryonic development.[6] It is found in the brain, spinal cord and peripheral nerves of embryos.[5][6]

References

GRCh38: Ensembl release 89: ENSG00000130283 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000109523 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Lee SJ (May 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.
Rankin CT, Bunton T, Lawler AM, Lee SJ (March 2000). "Regulation of left-right patterning in mice by growth/differentiation factor-1". Nat. Genet. 24 (3): 262–5. doi:10.1038/73472. PMID 10700179. S2CID 6787053.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130283 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000109523 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Lee_1991-5] Lee SJ (May 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.

[Rankin_2000-6] Rankin CT, Bunton T, Lawler AM, Lee SJ (March 2000). "Regulation of left-right patterning in mice by growth/differentiation factor-1". Nat. Genet. 24 (3): 262–5. doi:10.1038/73472. PMID 10700179. S2CID 6787053.

GDF1

References

Further reading