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

HGNC:14604 AMN

KEGG:hsa: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

1563792_PM_at

1563792_at

16789103

220989_PM_s_at

220989_s_at

223587_PM_s_at

223587_s_at

3553390

3553391

3553392

3553393

3553397

3553398

3553399

3553400

3553401

3553404

3553405

3553406

3553407

3553408

3553409

3553410

3553411

3553412

3553413

3553414

3553415

3553416

3553417

3553418

3553419

3553421

3553423

3553424

3553425

3553426

3553427

52736_f_at

78159_s_at

78473_at

7977033

81693

87933_f_at

87935_r_at

88112_at

91146_f_at

A_24_P313210

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

Hs2.376552.1.S1_3p_at

ILMN_1683901

PH_hs_0039048

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

ENSEMBL

ENSG00000166126, ENST00000299155, ENSP00000299155

OpenTargets

ENSG00000166126

GeneCards

AMN

HPA

ENSG00000166126-AMN

PRO

Q9BXJ7

Pharos - Targets

Q9BXJ7

GlyGen

Q9BXJ7

Orphanet

AMN

HMDB Protein

HMDBP10725

PDB

6GJE

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