GDF1

Protein-coding gene in the species Homo sapiens
GDF1
Identifiers
AliasesGDF1, DORV, DTGA3, RAI, growth differentiation factor 1, CHTD6, UOG1, LASS1, CERS1, LAG1
External IDsOMIM: 602880; MGI: 95683; HomoloGene: 105644; GeneCards: GDF1; OMA:GDF1 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for GDF1
Genomic location for GDF1
Band19p13.11Start18,868,545 bp[1]
End18,896,158 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for GDF1
Genomic location for GDF1
Band8|8 B3.3Start70,782,467 bp[2]
End70,784,237 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
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
SpeciesHumanMouse
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 MbChr 8: 70.78 – 70.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130283 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ a b 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.
  6. ^ a b 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.

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.
  • v
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TGF beta superfamily of ligands
Ligand of ACVR or TGFBR
Ligand of BMPR
TGF beta receptors
(Activin, BMP, family)
TGFBR1:
TGFBR2:
TGFBR3:
Transducers/SMADLigand inhibitors
CoreceptorsOther
  • v
  • t
  • e
TGFβ receptor superfamily modulators
Type I
ALK1 (ACVRL1)
  • Kinase inhibitors: K-02288
  • ML-347 (LDN-193719, VU0469381)
  • Other inhibitors: Disitertide
ALK2 (ACVR1A)
  • Kinase inhibitors: DMH-1
  • DMH-2
  • Dorsomorphin (BML-275)
  • K-02288
  • ML-347 (LDN-193719, VU0469381)
ALK3 (BMPR1A)
  • Kinase inhibitors: DMH-2
  • Dorsomorphin (BML-275)
  • K-02288
ALK4 (ACVR1B)
  • Kinase inhibitors: A 83-01
  • SB-431542
  • SB-505124
ALK5 (TGFβR1)
ALK6 (BMPR1B)
  • Kinase inhibitors: DMH-2
  • Dorsomorphin (BML-275)
  • K-02288
ALK7 (ACVR1C)
  • Antagonists: Lefty (1, 2)
  • Kinase inhibitors: A 83-01
  • SB-431542
  • SB-505124
Type II
TGFβR2
  • Kinase inhibitors: DMH-2
  • LY-364947
BMPR2
ACVR2A (ACVR2)
ACVR2B
  • Decoy receptors: Ramatercept
AMHR2 (AMHR)
Type III
TGFβR3 (β-glycan)
Unsorted


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