Protein : MADHIP
Owner Public
URN urn:agi-llid:9372
Hugo ID 6775
Connectivity 77
Name MADHIP
Description zinc finger, FYVE domain containing 9 (predicted)
Notes This gene encodes a double zinc finger (FYVE domain) protein that interacts directly with SMAD2 and SMAD3, and is involved in Alzheimer's disease. SMAD proteins transmit signals from transmembrane serine/threonine kinase receptors to the nucleus. The FYVE domain has been identified in a number of unrelated signaling molecules. This protein functions to recruit SMAD2 to the transforming growth factor-beta receptor. The FYVE domain is required to maintain the normal localization of this protein but is not involved in mediating interaction with SMADs. The C-terminal domain of this protein interacts with the TGFB receptor. This protein is a component of the TGFB pathway that brings the SMAD substrate to the receptor. Three alternatively spliced transcripts encoding distinct isoforms have been found for this gene.
RGD ID 1310856
MGI ID 2652838
Pathway TGF-beta signaling
AMHR-AcvR1
Group regulation of transforming growth factor beta receptor signaling pathway
SMAD protein heteromerization
SMAD protein nuclear translocation
transforming growth factor beta receptor complex assembly
endocytosis
cytoplasm
early endosome
protein binding
metal ion binding
zinc ion binding
SMAD binding
serine-type peptidase activity
receptor activity
GenBank ID NC_000001
NM_004799
NP_004790
NM_007324
NP_015563
NM_007323
NP_015562
NT_032977
NW_921351
AC_000044
AC105754
AL139156
AL513218
CAI12285
CAI12286
AB209125
BAD92362
AF104304
AAC99462
AF130419
AAD31694
AF130420
AAD31695
BC032680
AAH32680
O95405
Q59GI4
Q5T0F6
Q5T0F7
NC_000070
XM_131643
XP_131643
NT_039264
NW_000211
XM_980253
XP_985347
NW_001030747
XM_916173
XP_921266
AC_000026
AL607070
AL626783
AL671909
AA162183
AI427131
AK081320
AK087111
BAC39805
BC038255
BC046341
AAH46341
BC058416
AAH58416
BC079578
Q8C333
NC_005104
XM_233341
XP_233341
NW_001084843
XM_001060706
XP_001060706
XM_001060761
XP_001060761
NW_047718
AC_000073
Source Curated
LocusLink ID 9372
230597
313477
Organism Homo sapiens
Mus musculus
Rattus norvegicus
OMIM ID 603755
Alias NSP
SARA
MADHIP
SMADIP
zinc finger, FYVE domain containing 9
novel serine protease
MADH-interacting protein
receptor activation anchor
MAD homolog interacting protein
smad anchor for receptor activation
mothers against decapentaplegic homolog (Drosophila) interacting protein
MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor
E030027L17
zinc finger, FYVE domain containing 9 (predicted)
GO ID 0046872
0005515
0004872
0008236
0008270
0007183
0007184
0006897
0007181
0005737
0005769
0046332
0017015
Swiss-Prot Accession O95405
Q59GI4
Q5T0F6
Q5T0F7
Q8C333
Unigene ID Hs.532345
Mm.196776