Reactome: A Curated Pathway Database

SMAD4 R361C (R-HSA-3310983)

Species Homo sapiens

Additional Information
External reference name SMAD4
External reference id Q13485
Compartment cytosol
Other Identifiers 0000540341, 11725360_a_at, 11725361_s_at, 11725362_x_at, 11725363_s_at, 11744679_a_at, 11750827_a_at, 11753117_a_at, 1DD1, 1G88, 1MR1, 1U7F, 1U7V, 1YGS, 202526_at, 202527_s_at, 235725_at, 36953_at, 4089, 46885_at, 509_at, 510_g_at, 57902_at, 58962_at, 74813_at, A0A024R274, A_14_P134632, A_19_P00323665, A_19_P00804817, A_19_P00812250, A_23_P27346, AAA91041, AAC03051, AAH02379, AF045438, AF045439, AF045440, AF045441, AF045442, AF045443, AF045444, AF045445, AF045446, AF045447, AK290770, BAF83459, BC002379, CAB002312, CCDS11950, CH471096, EAW62985, EAW62986, EAW62987, ENSG00000141646, ENSP00000341551, ENSP00000381452, ENST00000342988, ENST00000398417, EntrezGene:4089, g4885456_3p_a_at, GE59174, GE887174, HGNC:6770, HPA019154, Hs.50438.0.A1_3p_at, Hs.75862, Hs.75862.0.S2_3p_at, ILMN_1741477, ILMN_1842785, IPR001132, IPR003619, IPR008984, IPR013019, LRG_318, LRG_318t1, MIM:114500, MIM:139210, MIM:174900, MIM:175050, MIM:260350, MIM:600993, NM_005359, NP_005350, OTTHUMP00000163548, PF03165, PF03166, PH_hs_0004380, REACT_111045, REACT_111057, REACT_111102, REACT_116125, REACT_12034, REACT_120734, REACT_120850, REACT_121061, REACT_121111, REACT_12627, REACT_150238, REACT_169103, REACT_169107, REACT_169122, REACT_169165, REACT_169192, REACT_169219, REACT_169263, REACT_169311, REACT_169398, REACT_169435, REACT_169440, REACT_169445, REACT_263856, REACT_6844, REACT_71, SM00523, SM00524, SMAD4, SMAD4-001, SMAD4-201, U44378, U44378_at, uc010xdp.2, UPI0000053431
Secondary Identifiers SMAD4_HUMAN, A8K405
Gene Names SMAD4, DPC4, MADH4
Chain chain:1-552
This entry is a component of:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 4089
CTD Gene 4089
BioGPS Gene 4089
NCBI Gene 4089
ENSEMBL ENSG00000141646
KEGG Gene 4089
Orphanet 15524
OMIM 174900
Reference Transcripts
Database Identifier
RefSeq NM_005359
Cross References
Database Identifier
RefSeq NP_005350
DOCK Blaster 1MR1, 1U7V, 1U7F, 1DD1, 1G88, 1YGS
PRO Q13485
GeneCards Q13485
UCSC human Q13485
COSMIC COSM14140, COSM86023
Protein Data Bank 1MR1, 1U7V, 1U7F, 1DD1, 1G88, 1YGS
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]
malignant neoplasm of large intestine 5672 [malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS]
bile duct carcinoma 4897
pancreatic cancer 1793 [malignant neoplasm of tail of pancreas, pancreatic tumor, Ca body of pancreas, pancreas neoplasm, malignant neoplasm of body of pancreas, pancreatic neoplasm, malignant tumor of body of pancreas (disorder), Ca tail of pancreas (disorder), malignant neoplasm of head of pancreas, Ca tail of pancreas, malignant tumor of tail of pancreas (disorder), neoplasm of pancreas (disorder), Ca head of pancreas, Ca body of pancreas (disorder)]
small intestine carcinoma 4907 [small intestinal carcinoma]
ModifiedResidues
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
L-arginine residue 361 replaced with L-cysteine 361 L-arginine residue 00011 A protein modification that effectively converts a source amino acid residue to an L-arginine.
Literature References
pubMedId Title Journal Year
9214508 A structural basis for mutational inactivation of the tumour suppressor Smad4 Nature 1997
23139211 SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer Cancer Res. 2013