LOCUS NP_004603 503 aa linear PRI 30-NOV-2008
DEFINITION transforming growth factor, beta receptor I isoform 1 precursor
[Homo sapiens].
ACCESSION NP_004603
VERSION NP_004603.1 GI:4759226
DBSOURCE REFSEQ: accession NM_004612.2
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 503)
AUTHORS Castillejo,A., Rothman,N., Murta-Nascimento,C., Malats,N.,
Garcia-Closas,M., Gomez-Martinez,A., Lloreta,J., Tardon,A.,
Serra,C., Garcia-Closas,R., Chanock,S., Silverman,D.T.,
Dosemeci,M., Kogevinas,M., Carrato,A., Soto,J.L. and Real,F.X.
TITLE TGFB1 and TGFBR1 polymorphic variants in relationship to bladder
cancer risk and prognosis
JOURNAL Int. J. Cancer 124 (3), 608-613 (2009)
PUBMED 19004027
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 503)
AUTHORS Wang,S.S., Bratti,M.C., Rodriguez,A.C., Herrero,R., Burk,R.D.,
Porras,C., Gonzalez,P., Sherman,M.E., Wacholder,S., Lan,Z.E.,
Schiffman,M., Chanock,S.J. and Hildesheim,A.
TITLE Common Variants in Immune and DNA Repair Genes and Risk for Human
Papillomavirus Persistence and Progression to Cervical Cancer
JOURNAL J. Infect. Dis. (2008) In press
PUBMED 19012493
REMARK GeneRIF: Observational study of gene-disease association and
gene-environment interaction. (HuGE Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 503)
AUTHORS Stheneur,C., Collod-Beroud,G., Faivre,L., Gouya,L., Sultan,G., Le
Parc,J.M., Moura,B., Attias,D., Muti,C., Sznajder,M., Claustres,M.,
Junien,C., Baumann,C., Cormier-Daire,V., Rio,M., Lyonnet,S.,
Plauchu,H., Lacombe,D., Chevallier,B., Jondeau,G. and Boileau,C.
TITLE Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and
genotype-phenotype investigations in 457 patients with Marfan
syndrome type I and II, Loeys-Dietz syndrome and related disorders
JOURNAL Hum. Mutat. 29 (11), E284-E295 (2008)
PUBMED 18781618
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 503)
AUTHORS Kaklamani,V.G., Sadim,M., Koumantaki,Y., Kaklamanis,P. and
Pasche,B.
TITLE Role of Polymorphisms in AdamantiadesBehcet's Disease
JOURNAL J. Rheumatol. (2008) In press
PUBMED 18925687
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 5 (residues 1 to 503)
AUTHORS Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
Marazita,M.L.
TITLE Candidate gene/loci studies in cleft lip/palate and dental
anomalies finds novel susceptibility genes for clefts
JOURNAL Genet. Med. 10 (9), 668-674 (2008)
PUBMED 18978678
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (sites)
AUTHORS Saitoh,M., Nishitoh,H., Amagasa,T., Miyazono,K., Takagi,M. and
Ichijo,H.
TITLE Identification of important regions in the cytoplasmic
juxtamembrane domain of type I receptor that separate signaling
pathways of transforming growth factor-beta
JOURNAL J. Biol. Chem. 271 (5), 2769-2775 (1996)
PUBMED 8576253
REFERENCE 7 (residues 1 to 503)
AUTHORS Wieser,R., Wrana,J.L. and Massague,J.
TITLE GS domain mutations that constitutively activate T beta R-I, the
downstream signaling component in the TGF-beta receptor complex
JOURNAL EMBO J. 14 (10), 2199-2208 (1995)
PUBMED 7774578
REFERENCE 8 (residues 1 to 503)
AUTHORS Kawabata,M., Chytil,A. and Moses,H.L.
TITLE Cloning of a novel type II serine/threonine kinase receptor through
interaction with the type I transforming growth factor-beta
receptor
JOURNAL J. Biol. Chem. 270 (10), 5625-5630 (1995)
PUBMED 7890683
REFERENCE 9 (residues 1 to 503)
AUTHORS Wang,T., Donahoe,P.K. and Zervos,A.S.
TITLE Specific interaction of type I receptors of the TGF-beta family
with the immunophilin FKBP-12
JOURNAL Science 265 (5172), 674-676 (1994)
PUBMED 7518616
REFERENCE 10 (residues 1 to 503)
AUTHORS Ebner,R., Chen,R.H., Lawler,S., Zioncheck,T. and Derynck,R.
TITLE Determination of type I receptor specificity by the type II
receptors for TGF-beta or activin
JOURNAL Science 262 (5135), 900-902 (1993)
PUBMED 8235612
REFERENCE 11 (residues 1 to 503)
AUTHORS Massague,J.
TITLE Receptors for the TGF-beta family
JOURNAL Cell 69 (7), 1067-1070 (1992)
PUBMED 1319842
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from L11695.1 and AL162427.24.
Summary: The protein encoded by this gene forms a heteromeric
complex with type II TGF-beta receptors when bound to TGF-beta,
transducing the TGF-beta signal from the cell surface to the
cytoplasm. The encoded protein is a serine/threonine protein
kinase. Mutations in this gene have been associated with
Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript
variants encoding different isoforms have been found for this gene.
[provided by RefSeq].
Transcript Variant: This variant (1) encodes the longer 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..503
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q22"
Protein 1..503
/product="transforming growth factor, beta receptor I
isoform 1 precursor"
/EC_number="2.7.11.30"
/note="transforming growth factor, beta receptor I
(activin A receptor type II-like kinase, 53kD); activin
receptor-like kinase 5; transforming growth factor beta
receptor I; activin A receptor type II-like kinase, 53kDa;
serine/threonine-protein kinase receptor R4"
sig_peptide 1..24
/calculated_mol_wt=2331
mat_peptide 25..503
/product="transforming growth factor, beta receptor I
isoform 1"
/calculated_mol_wt=53647
Site 172
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/db_xref="HPRD:01823"
Site 176
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/db_xref="HPRD:01823"
CDS 1..503
/gene="TGFBR1"
/gene_synonym="AAT5"
/gene_synonym="ALK5"
/gene_synonym="SKR4"
/gene_synonym="ALK-5"
/gene_synonym="LDS1A"
/gene_synonym="LDS2A"
/gene_synonym="TGFR-1"
/gene_synonym="ACVRLK4"
/coded_by="NM_004612.2:77..1588"
/note="isoform 1 precursor is encoded by transcript
variant 1"
/db_xref="CCDS:CCDS6738.1"
/db_xref="GeneID:7046"
/db_xref="HGNC:11772"
/db_xref="HPRD:01822"
/db_xref="MIM:190181"
ORIGIN
1 meaavaaprp rllllvlaaa aaaaaallpg atalqcfchl ctkdnftcvt dglcfvsvte
61 ttdkvihnsm ciaeidlipr drpfvcapss ktgsvtttyc cnqdhcnkie lpttvksspg
121 lgpvelaavi agpvcfvcis lmlmvyichn rtvihhrvpn eedpsldrpf isegttlkdl
181 iydmttsgsg sglpllvqrt iartivlqes igkgrfgevw rgkwrgeeva vkifssreer
241 swfreaeiyq tvmlrhenil gfiaadnkdn gtwtqlwlvs dyhehgslfd ylnrytvtve
301 gmiklalsta sglahlhmei vgtqgkpaia hrdlksknil vkkngtccia dlglavrhds
361 atdtidiapn hrvgtkryma pevlddsinm khfesfkrad iyamglvfwe iarrcsiggi
421 hedyqlpyyd lvpsdpsvee mrkvvceqkl rpnipnrwqs cealrvmaki mrecwyanga
481 arltalrikk tlsqlsqqeg ikm
//