Reactome: A Curated Pathway Database

SMAD4 D351Y (R-HSA-3310970)

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_169107, REACT_169122, REACT_169165, REACT_169219, REACT_169398, REACT_263856, REACT_355457, 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:
Reference Genes
Database Identifier
dbSNP Gene 4089
CTD Gene 4089
BioGPS Gene 4089
NCBI Gene 4089
ENSEMBL ENSG00000141646
KEGG Gene 4089
Orphanet 15524
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
Protein Data Bank 1MR1, 1U7V, 1U7F, 1DD1, 1G88, 1YGS
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]
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
L-aspartic acid residue 351 replaced with L-tyrosine 351 L-aspartic acid residue 00013 A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Literature References
pubMedId Title Journal Year
23139211 SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer Cancer Res. 2013