Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
AMN G5Afs*12 [plasma membrane]
Stable Identifier
R-HSA-3296484
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective AMN causes MGA1 (Homo sapiens)
Defective AMN does not transport GIF:Cbl (Homo sapiens)
CUBN:AMN mutants [plasma membrane] (Homo sapiens)
AMN mutants [plasma membrane] (Homo sapiens)
AMN G5Afs*12 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9BXJ7 AMN
Gene Names
AMN, UNQ513/PRO1028
Chain
signal peptide:1-19, chain:20-453, chain:20-
Reference Genes
BioGPS Gene:81693 AMN
COSMIC (genes):AMN AMN
CTD Gene:81693 AMN
dbSNP Gene:81693 AMN
ENSEMBL:ENSG00000166126 AMN
ENSEMBL_homo_sapiens_GENE:ENSG00000166126.11 AMN
HGNC:14604 AMN
KEGG Gene (Homo sapiens):81693 AMN
Monarch:81693 AMN
NCBI Gene:81693 AMN
OMIM:605799 AMN
UCSC:Q9BXJ7 AMN
Reference Transcript
RefSeq:NM_030943.3 AMN
Other Identifiers
11733804_at
11733805_a_at
11733806_at
16789103
220989_PM_s_at
220989_s_at
223587_PM_s_at
223587_s_at
3553390
3553392
3553393
3553397
3553399
3553401
3553404
3553406
3553407
3553408
3553410
3553411
3553412
3553414
3553416
3553417
52736_f_at
78473_at
7977033
81693
87933_f_at
88112_at
91146_f_at
GE83200
GO:0003014
GO:0005102
GO:0005515
GO:0005576
GO:0005615
GO:0005768
GO:0005886
GO:0005905
GO:0006766
GO:0006898
GO:0008104
GO:0009235
GO:0010008
GO:0015031
GO:0015889
GO:0016020
GO:0016192
GO:0016324
GO:0030139
GO:0031410
GO:0031526
GO:0031528
GO:0032991
GO:0038024
GO:0043001
GO:0043226
GO:0043235
GO:0045177
GO:0070062
GO:0072659
GO:0097017
Hs.236720.0.S1_3p_s_at
ILMN_1683901
TC14000790.hg
g13569914_3p_s_at
Participates
as a member of
AMN mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
AMN T41I [plasma membrane]
AMN [plasma membrane]
Modified Residues
Name
Replacement of residues 5 to 15 by AGSCCGCSSAH
Disease
Name
Identifier
Synonyms
megaloblastic anemia
DOID:13382
megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS
Cross References
RefSeq
NP_112205.2
OpenTargets
ENSG00000166126
HPA
ENSG00000166126-AMN
GeneCards
Q9BXJ7
Ensembl
ENSP00000299155
,
ENSG00000166126
,
ENST00000299155
PRO
Q9BXJ7
Pharos - Targets
Q9BXJ7
Orphanet
16814
PDB
6GJE
HMDB Protein
HMDBP10725
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O60494 CUBN
4
CUBN P1297L [plasma membrane]
(R-HSA-3296479)
CUBN [cytosol]
(R-HSA-350162)
CUBN [lysosomal lumen]
(R-HSA-350088)
CUBN [plasma membrane]
(R-HSA-264843)
0.602
3
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text