Reactome | AMN G5Afs*12 [plasma membrane]

AMN G5Afs*12 [plasma membrane]

Stable Identifier

R-HSA-3296484

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Locations in the PathwayBrowser

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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

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