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Protein

Protein amnionless

Gene

AMN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Necessary for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052). Required for normal CUBN-mediated protein transport in the kidney. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).By similarity1 Publication1 Publication

Miscellaneous

The mutations described in PubMed:12590260 all affect the N-terminus of the protein; shorter isoforms produced from alternative transcription start sites might still fulfill a role in embryogenesis. This might explain the discrepancy with the embryonic lethality of null mutants in mice.

GO - Molecular functioni

  • signaling receptor binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359462 Defective AMN causes hereditary megaloblastic anemia 1
R-HSA-3359463 Defective CUBN causes hereditary megaloblastic anemia 1
R-HSA-8964011 HDL clearance

Names & Taxonomyi

Protein namesi
Recommended name:
Protein amnionless
Gene namesi
Name:AMN
ORF Names:UNQ513/PRO1028
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000166126.10
HGNCiHGNC:14604 AMN
MIMi605799 gene
neXtProtiNX_Q9BXJ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 357ExtracellularSequence analysisAdd BLAST338
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21
Topological domaini379 – 453CytoplasmicSequence analysisAdd BLAST75

Keywords - Cellular componenti

Cell membrane, Coated pit, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Recessive hereditary megaloblastic anemia 1 (RH-MGA1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDue to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.
See also OMIM:261100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01573341T → I in RH-MGA1. 1 PublicationCorresponds to variant dbSNP:rs119478058EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi81693
MalaCardsiAMN
MIMi261100 phenotype
OpenTargetsiENSG00000166126
Orphaneti35858 Grasbeck-Imerslund disease
PharmGKBiPA134962814

Chemistry databases

DrugBankiDB00115 Cyanocobalamin
DB00200 Hydroxocobalamin

Polymorphism and mutation databases

BioMutaiAMN
DMDMi296434395

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000002070220 – 453Protein amnionlessAdd BLAST434

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9BXJ7
PaxDbiQ9BXJ7
PeptideAtlasiQ9BXJ7
PRIDEiQ9BXJ7
ProteomicsDBi79440

PTM databases

iPTMnetiQ9BXJ7
PhosphoSitePlusiQ9BXJ7

Expressioni

Tissue specificityi

Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.2 Publications

Gene expression databases

BgeeiENSG00000166126 Expressed in 211 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_AMN
ExpressionAtlasiQ9BXJ7 baseline and differential
GenevisibleiQ9BXJ7 HS

Organism-specific databases

HPAiHPA000817

Interactioni

Subunit structurei

Interacts with CUBN/cubilin.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123571, 1 interactor
CORUMiQ9BXJ7
IntActiQ9BXJ7, 1 interactor
STRINGi9606.ENSP00000299155

Structurei

3D structure databases

ProteinModelPortaliQ9BXJ7
SMRiQ9BXJ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini202 – 254VWFCAdd BLAST53

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II2Q Eukaryota
ENOG410XS7P LUCA
GeneTreeiENSGT00390000007463
HOGENOMiHOG000033922
HOVERGENiHBG037321
InParanoidiQ9BXJ7
KOiK18259
OMAiANWSQNR
OrthoDBiEOG091G11HV
PhylomeDBiQ9BXJ7
TreeFamiTF323790

Family and domain databases

InterProiView protein in InterPro
IPR026112 AMN
PANTHERiPTHR14995 PTHR14995, 1 hit
PfamiView protein in Pfam
PF14828 Amnionless, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 1 isoform i produced by alternative promoter usage. AlignAdd to basket
Note: At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BXJ7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGVLGRVLLW LQLCALTQAV SKLWVPNTDF DVAANWSQNR TPCAGGAVEF
60 70 80 90 100
PADKMVSVLV QEGHAVSDML LPLDGELVLA SGAGFGVSDV GSHLDCGAGE
110 120 130 140 150
PAVFRDSDRF SWHDPHLWRS GDEAPGLFFV DAERVPCRHD DVFFPPSASF
160 170 180 190 200
RVGLGPGASP VRVRSISALG RTFTRDEDLA VFLASRAGRL RFHGPGALSV
210 220 230 240 250
GPEDCADPSG CVCGNAEAQP WICAALLQPL GGRCPQAACH SALRPQGQCC
260 270 280 290 300
DLCGAVVLLT HGPAFDLERY RARILDTFLG LPQYHGLQVA VSKVPRSSRL
310 320 330 340 350
READTEIQVV LVENGPETGG AGRLARALLA DVAENGEALG VLEATMRESG
360 370 380 390 400
AHVWGSSAAG LAGGVAAAVL LALLVLLVAP PLLRRAGRLR WRRHEAAAPA
410 420 430 440 450
GAPLGFRNPV FDVTASEELP LPRRLSLVPK AAADSTSHSY FVNPLFAGAE

AEA
Length:453
Mass (Da):47,754
Last modified:May 18, 2010 - v2
Checksum:i40AA14EF186A6009
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKJ5H0YKJ5_HUMAN
Protein amnionless
AMN
131Annotation score:
H0YMX8H0YMX8_HUMAN
Protein amnionless
AMN
107Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti241S → F in AAK28532 (PubMed:11279523).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01573341T → I in RH-MGA1. 1 PublicationCorresponds to variant dbSNP:rs119478058EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF328788 mRNA Translation: AAK28532.1
AL117209 Genomic DNA No translation available.
AY358468 mRNA Translation: AAQ89949.1
CCDSiCCDS9977.1 [Q9BXJ7-1]
RefSeqiNP_112205.2, NM_030943.3 [Q9BXJ7-1]
UniGeneiHs.534494

Genome annotation databases

EnsembliENST00000299155; ENSP00000299155; ENSG00000166126 [Q9BXJ7-1]
GeneIDi81693
KEGGihsa:81693
UCSCiuc001ymg.5 human [Q9BXJ7-1]

Keywords - Coding sequence diversityi

Alternative promoter usage

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF328788 mRNA Translation: AAK28532.1
AL117209 Genomic DNA No translation available.
AY358468 mRNA Translation: AAQ89949.1
CCDSiCCDS9977.1 [Q9BXJ7-1]
RefSeqiNP_112205.2, NM_030943.3 [Q9BXJ7-1]
UniGeneiHs.534494

3D structure databases

ProteinModelPortaliQ9BXJ7
SMRiQ9BXJ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123571, 1 interactor
CORUMiQ9BXJ7
IntActiQ9BXJ7, 1 interactor
STRINGi9606.ENSP00000299155

Chemistry databases

DrugBankiDB00115 Cyanocobalamin
DB00200 Hydroxocobalamin

PTM databases

iPTMnetiQ9BXJ7
PhosphoSitePlusiQ9BXJ7

Polymorphism and mutation databases

BioMutaiAMN
DMDMi296434395

Proteomic databases

MaxQBiQ9BXJ7
PaxDbiQ9BXJ7
PeptideAtlasiQ9BXJ7
PRIDEiQ9BXJ7
ProteomicsDBi79440

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299155; ENSP00000299155; ENSG00000166126 [Q9BXJ7-1]
GeneIDi81693
KEGGihsa:81693
UCSCiuc001ymg.5 human [Q9BXJ7-1]

Organism-specific databases

CTDi81693
DisGeNETi81693
EuPathDBiHostDB:ENSG00000166126.10
GeneCardsiAMN
H-InvDBiHIX0011994
HGNCiHGNC:14604 AMN
HPAiHPA000817
MalaCardsiAMN
MIMi261100 phenotype
605799 gene
neXtProtiNX_Q9BXJ7
OpenTargetsiENSG00000166126
Orphaneti35858 Grasbeck-Imerslund disease
PharmGKBiPA134962814
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II2Q Eukaryota
ENOG410XS7P LUCA
GeneTreeiENSGT00390000007463
HOGENOMiHOG000033922
HOVERGENiHBG037321
InParanoidiQ9BXJ7
KOiK18259
OMAiANWSQNR
OrthoDBiEOG091G11HV
PhylomeDBiQ9BXJ7
TreeFamiTF323790

Enzyme and pathway databases

ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359462 Defective AMN causes hereditary megaloblastic anemia 1
R-HSA-3359463 Defective CUBN causes hereditary megaloblastic anemia 1
R-HSA-8964011 HDL clearance

Miscellaneous databases

GeneWikiiAmnionless
GenomeRNAii81693
PROiPR:Q9BXJ7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166126 Expressed in 211 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_AMN
ExpressionAtlasiQ9BXJ7 baseline and differential
GenevisibleiQ9BXJ7 HS

Family and domain databases

InterProiView protein in InterPro
IPR026112 AMN
PANTHERiPTHR14995 PTHR14995, 1 hit
PfamiView protein in Pfam
PF14828 Amnionless, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAMNLS_HUMAN
AccessioniPrimary (citable) accession number: Q9BXJ7
Secondary accession number(s): Q6UX83
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 133 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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