|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:associatedWith
|
gptkb:carcinoid_tumor
gptkb:gastrinoma
gptkb:insulinoma
parathyroid adenoma
prolactinoma
angiofibroma
lipoma
adrenocortical tumor
collagenoma
multiple endocrine neoplasia type 1 syndrome
|
|
gptkbp:biologicalProcess
|
DNA repair
tumor suppression
cell cycle control
transcriptional regulation
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for MEN1 syndrome
|
|
gptkbp:discoveredBy
|
Donald S. Cooper
|
|
gptkbp:encodes
|
menin
|
|
gptkbp:Entrez_Gene_ID
|
4221
ENSG00000133895
|
|
gptkbp:expressedIn
|
gptkb:pituitary_gland
pancreas
parathyroid gland
|
|
gptkbp:firstDescribed
|
1903
|
|
gptkbp:fullName
|
gptkb:multiple_endocrine_neoplasia_type_1
|
|
gptkbp:geneType
|
tumor suppressor
|
|
gptkbp:HGNC_ID
|
HGNC:7010
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MEN1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:JunD
gptkb:NF-kB
MLL
LEDGF
Smad3
|
|
gptkbp:length
|
610 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11q13
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
gptkb:pancreatic_neuroendocrine_tumors
nonsense
deletion
insertion
missense
frameshift
splice site
parathyroid tumors
pituitary tumors
|
|
gptkbp:mutationInheritance
|
autosomal dominant
|
|
gptkbp:OMIM
|
131100
|
|
gptkbp:orthologInFruitFly
|
gptkb:Menin
|
|
gptkbp:orthologInMouse
|
Men1
|
|
gptkbp:orthologInYeast
|
YPL002C
|
|
gptkbp:orthologInZebrafish
|
men1
|
|
gptkbp:PDB
|
3U84
3U85
|
|
gptkbp:product
|
menin
|
|
gptkbp:RefSeq
|
NM_130799
|
|
gptkbp:UniProtID
|
O00255
|
|
gptkbp:bfsParent
|
gptkb:multiple_endocrine_neoplasia_type_1
gptkb:Multiple_Endocrine_Neoplasia_type_1
gptkb:MEN2A
gptkb:MEN2B
gptkb:Multiple_endocrine_neoplasia_type_1
gptkb:Multiple_endocrine_neoplasia
|
|
gptkbp:bfsLayer
|
7
|