LOCUS NP_954701 185 aa linear PRI 23-NOV-2008
DEFINITION glial cell derived neurotrophic factor isoform 2 precursor [Homo
sapiens].
ACCESSION NP_954701
VERSION NP_954701.1 GI:40549411
DBSOURCE REFSEQ: accession NM_199231.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 185)
AUTHORS Fernandez,R.M., Ruiz-Ferrer,M., Lopez-Alonso,M., Antinolo,G. and
Borrego,S.
TITLE Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN,
ARTN, PSPN, and susceptibility to Hirschsprung disease
JOURNAL J. Pediatr. Surg. 43 (11), 2042-2047 (2008)
PUBMED 18970938
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 185)
AUTHORS Zeng,Q., Cheng,Y., Zhu,Q., Yu,Z., Wu,X., Huang,K., Zhou,M., Han,S.
and Zhang,Q.
TITLE The relationship between overexpression of glial cell-derived
neurotrophic factor and its RET receptor with progression and
prognosis of human pancreatic cancer
JOURNAL J. Int. Med. Res. 36 (4), 656-664 (2008)
PUBMED 18652760
REMARK GeneRIF: Results describe the relationship between overexpression
of glial cell-derived neurotrophic factor and its RET receptor with
progression and prognosis of human pancreatic cancer.
REFERENCE 3 (residues 1 to 185)
AUTHORS Sjostrand,D. and Ibanez,C.F.
TITLE Insights into GFRalpha1 regulation of neural cell adhesion molecule
(NCAM) function from structure-function analysis of the
NCAM/GFRalpha1 receptor complex
JOURNAL J. Biol. Chem. 283 (20), 13792-13798 (2008)
PUBMED 18353777
REMARK GeneRIF: direct receptor-receptor interactions are not required for
high affinity GDNF binding to NCAM but play an important role in
the regulation of NCAM-mediated cell adhesion by GFRalpha1
REFERENCE 4 (residues 1 to 185)
AUTHORS He,D.Y. and Ron,D.
TITLE Glial cell line-derived neurotrophic factor reverses
ethanol-mediated increases in tyrosine hydroxylase immunoreactivity
via altering the activity of heat shock protein 90
JOURNAL J. Biol. Chem. 283 (19), 12811-12818 (2008)
PUBMED 18343820
REMARK GeneRIF: GDNF reverses this ethanol-mediated adaptation by
inhibiting the interaction of tyrosine hydroxylase with HSP90.
REFERENCE 5 (residues 1 to 185)
AUTHORS Laurin,N., Wigg,K.G., Feng,Y., Sandor,P. and Barr,C.L.
TITLE Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large
pedigree and association study of six candidates in the region
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. (2008) In press
PUBMED 18454440
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 6 (residues 1 to 185)
AUTHORS Schindelhauer,D., Schuffenhauer,S., Gasser,T., Steinkasserer,A. and
Meitinger,T.
TITLE The gene coding for glial cell line derived neurotrophic factor
(GDNF) maps to chromosome 5p12-p13.1
JOURNAL Genomics 28 (3), 605-607 (1995)
PUBMED 7490108
REFERENCE 7 (residues 1 to 185)
AUTHORS Oppenheim,R.W., Houenou,L.J., Johnson,J.E., Lin,L.F., Li,L.,
Lo,A.C., Newsome,A.L., Prevette,D.M. and Wang,S.
TITLE Developing motor neurons rescued from programmed and
axotomy-induced cell death by GDNF
JOURNAL Nature 373 (6512), 344-346 (1995)
PUBMED 7830769
REFERENCE 8 (residues 1 to 185)
AUTHORS Tomac,A., Lindqvist,E., Lin,L.F., Ogren,S.O., Young,D., Hoffer,B.J.
and Olson,L.
TITLE Protection and repair of the nigrostriatal dopaminergic system by
GDNF in vivo
JOURNAL Nature 373 (6512), 335-339 (1995)
PUBMED 7830766
REFERENCE 9 (residues 1 to 185)
AUTHORS Schaar,D.G., Sieber,B.A., Sherwood,A.C., Dean,D., Mendoza,G.,
Ramakrishnan,L., Dreyfus,C.F. and Black,I.B.
TITLE Multiple astrocyte transcripts encode nigral trophic factors in rat
and human
JOURNAL Exp. Neurol. 130 (2), 387-393 (1994)
PUBMED 7867768
REFERENCE 10 (residues 1 to 185)
AUTHORS Lin,L.F., Doherty,D.H., Lile,J.D., Bektesh,S. and Collins,F.
TITLE GDNF: a glial cell line-derived neurotrophic factor for midbrain
dopaminergic neurons
JOURNAL Science 260 (5111), 1130-1132 (1993)
PUBMED 8493557
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AJ001899.1 and AY052832.1.
Summary: This gene encodes a highly conserved neurotrophic factor.
The recombinant form of this protein was shown to promote the
survival and differentiation of dopaminergic neurons in culture,
and was able to prevent apoptosis of motor neurons induced by
axotomy. The encoded protein is processed to a mature secreted form
that exists as a homodimer. The mature form of the protein is a
ligand for the product of the RET (rearranged during transfection)
protooncogene. In addition to the transcript encoding GDNF, two
additional alternative transcripts encoding distinct proteins,
referred to as astrocyte-derived trophic factors, have also been
described. Mutations in this gene may be associated with
Hirschsprung disease. [provided by RefSeq].
Transcript Variant: This variant (2) lacks an alternate segment in
the 5' coding region, compared to variant 1, resulting in a protein
(isoform 2) that has a shorter N-terminus, compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..185
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5p13.1-p12"
Protein 1..185
/product="glial cell derived neurotrophic factor isoform 2
precursor"
/note="astrocyte-derived trophic factor; glial cell line
derived neurotrophic factor; glial derived neurotrophic
factor"
sig_peptide 1..19
/calculated_mol_wt=2070
mat_peptide 20..185
/product="glial cell line derived neurotrophic factor
isoform 2"
/calculated_mol_wt=18834
CDS 1..185
/gene="GDNF"
/gene_synonym="ATF1"
/gene_synonym="ATF2"
/gene_synonym="HFB1-GDNF"
/coded_by="NM_199231.1:124..681"
/note="isoform 2 precursor is encoded by transcript
variant 2"
/db_xref="CCDS:CCDS3923.1"
/db_xref="GeneID:2668"
/db_xref="HGNC:4232"
/db_xref="HPRD:02906"
/db_xref="MIM:600837"
ORIGIN
1 mklwdvvavc lvllhtasaf plpaanmped ypdqfddvmd fiqatikrlk rspdkqmavl
61 prrernrqaa aanpensrgk grrgqrgknr gcvltaihln vtdlglgyet keelifrycs
121 gscdaaetty dkilknlsrn rrlvsdkvgq accrpiafdd dlsflddnlv yhilrkhsak
181 rcgci
//