Reactome: A Curated Pathway Database

SMAD4 D351H (R-HSA-3310965)

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]
ovarian cancer 2394 [ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)]
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)]
lung cancer 1324
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
L-aspartic acid 351 replaced with L-histidine 351 L-aspartic acid removal 01634 A protein modification that effectively removes or replaces an L-aspartic acid.
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