Reactome: A Curated Pathway Database

SMAD4 D351H (R-HSA-3310965) [Homo sapiens]

Reference Gene Product
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
 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:600993
 NM_005359  NP_005350  OTTHUMP00000163548  PF03165  PF03166
 PH_hs_0004380  R-HSA-1181150  R-HSA-1266738  R-HSA-1502540  R-HSA-162582
 R-HSA-1643685  R-HSA-170834  R-HSA-201451  R-HSA-212436  R-HSA-2173789
 R-HSA-2173793  R-HSA-2173795  R-HSA-2173796  R-HSA-3304347  R-HSA-3304349
 R-HSA-3304351  R-HSA-3311021  R-HSA-3315487  R-HSA-452723  R-HSA-5663202
 R-HSA-74160  SM00523  SM00524  SMAD4  SMAD4-001
 SMAD4-201  U44378  U44378_at  uc010xdp.3  uc060pfa.1
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
Orphanet 15524
Reference Transcripts
Database Identifier
RefSeq NM_005359
Cross References
Database Identifier
RefSeq NP_005350
DOCK Blaster 1YGS, 1U7F, 1DD1, 1G88, 1U7V, 1MR1
PRO Q13485
GeneCards Q13485
UCSC human Q13485
Protein Data Bank 1YGS, 1U7F, 1DD1, 1G88, 1U7V, 1MR1
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
Confidence Score Interactor Accession Interactor Name Evidence
0.957 Q15796 SMAD2_HUMAN 21
0.957 P84022 SMAD3_HUMAN 18
0.878 P12755 SKI_HUMAN 12
0.867 Q15797 SMAD1_HUMAN 7
0.748 Q9UPN9 TRI33_HUMAN 6
0.721 P63279 UBC9_HUMAN 4
0.719 Q9UBE8 NLK_HUMAN 6
0.609 P17676 CEBPB_HUMAN 2
0.602 Q92988 DLX4_HUMAN 5
0.602 P70398 USP9X_MOUSE 4
0.576 O43524 FOXO3_HUMAN 4
0.556 Q8WWW0 RASF5_HUMAN 3
0.556 P61968 LMO4_HUMAN 3
0.553 O75925 PIAS1_HUMAN 2
0.553 Q6VMQ6 MCAF1_HUMAN 2
0.547 O15198 SMAD9_HUMAN 2
0.547 Q13485 SMAD4_HUMAN 3
0.547 P12757 SKIL_HUMAN 3
0.547 Q9NPI6 DCP1A_HUMAN 2
0.527 SMAD7 ENSG00000101665 3
0.524 Q9UI36 DACH1_HUMAN 3
0.508 P23769 GATA2_HUMAN 2
0.499 P70056 FOXH1_XENLA 2
0.488 Q96F07 CYFP2_HUMAN 2