Reactome: A Curated Pathway Database

SMAD4 D351G (R-HSA-3310967) [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]
lung cancer 1324
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 glycine 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
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