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Q9BXJ7 (AMNLS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein amnionless
Gene names
Name:AMN
ORF Names:UNQ513/PRO1028
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length453 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Necessary for efficient absorption of vitamin B12. 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.

Subunit structure

Interacts with CUBN/cubilin. Ref.5

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

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. Ref.4 Ref.5

Involvement in disease

Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.6

Miscellaneous

The mutations described in Ref.4 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.

Sequence similarities

Contains 1 VWFC domain.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative promoter usage
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processGolgi to plasma membrane protein transport

Inferred from direct assay Ref.5. Source: UniProt

cobalamin metabolic process

Traceable author statement. Source: Reactome

cobalamin transport

Inferred from direct assay Ref.5. Source: UniProt

excretion

Inferred from electronic annotation. Source: Ensembl

lipoprotein metabolic process

Traceable author statement. Source: Reactome

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

receptor-mediated endocytosis

Inferred from direct assay Ref.5. Source: UniProt

small molecule metabolic process

Traceable author statement. Source: Reactome

vitamin metabolic process

Traceable author statement. Source: Reactome

water-soluble vitamin metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentapical plasma membrane

Inferred from direct assay Ref.5. Source: UniProt

endocytic vesicle

Inferred from direct assay Ref.5. Source: UniProt

endosome membrane

Traceable author statement. Source: Reactome

extracellular space

Inferred from direct assay Ref.5. Source: UniProt

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionreceptor binding

Inferred from physical interaction Ref.5. Source: UniProt

Complete GO annotation...

Alternative products

This entry describes 1 isoform produced by alternative promoter usage. [Select]

Note: At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.
Isoform 1 (identifier: Q9BXJ7-1)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 453434Protein amnionless
PRO_0000020702

Regions

Topological domain20 – 357338Extracellular Potential
Transmembrane358 – 37821Helical; Potential
Topological domain379 – 45375Cytoplasmic Potential
Domain202 – 25453VWFC

Amino acid modifications

Glycosylation351N-linked (GlcNAc...) Potential

Natural variations

Natural variant411T → I in RH-MGA1. Ref.4
Corresponds to variant rs28939377 [ dbSNP | Ensembl ].
VAR_015733

Experimental info

Sequence conflict2411S → F in AAK28532. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 40AA14EF186A6009

FASTA45347,754
        10         20         30         40         50         60 
MGVLGRVLLW LQLCALTQAV SKLWVPNTDF DVAANWSQNR TPCAGGAVEF PADKMVSVLV 

        70         80         90        100        110        120 
QEGHAVSDML LPLDGELVLA SGAGFGVSDV GSHLDCGAGE PAVFRDSDRF SWHDPHLWRS 

       130        140        150        160        170        180 
GDEAPGLFFV DAERVPCRHD DVFFPPSASF RVGLGPGASP VRVRSISALG RTFTRDEDLA 

       190        200        210        220        230        240 
VFLASRAGRL RFHGPGALSV GPEDCADPSG CVCGNAEAQP WICAALLQPL GGRCPQAACH 

       250        260        270        280        290        300 
SALRPQGQCC DLCGAVVLLT HGPAFDLERY RARILDTFLG LPQYHGLQVA VSKVPRSSRL 

       310        320        330        340        350        360 
READTEIQVV LVENGPETGG AGRLARALLA DVAENGEALG VLEATMRESG AHVWGSSAAG 

       370        380        390        400        410        420 
LAGGVAAAVL LALLVLLVAP PLLRRAGRLR WRRHEAAAPA GAPLGFRNPV FDVTASEELP 

       430        440        450 
LPRRLSLVPK AAADSTSHSY FVNPLFAGAE AEA 

« Hide

References

« Hide 'large scale' references
[1]"The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain."
Kalantry S., Manning S., Haub O., Tomihara-Newberger C., Lee H.-G., Fangman J., Disteche C.M., Manova K., Lacy E.
Nat. Genet. 27:412-416(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-230.
[4]"Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia."
Tanner S.M., Aminoff M., Wright F.A., Liyanarachchi S., Kuronen M., Saarinen A., Massika O., Mandel H., Broch H., de la Chapelle A.
Nat. Genet. 33:426-429(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 300-323 AND 393-453, TISSUE SPECIFICITY, VARIANT RH-MGA1 ILE-41.
[5]"The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless."
Fyfe J.C., Madsen M., Hoejrup P., Christensen E.I., Tanner S.M., de la Chapelle A., He Q., Moestrup S.K.
Blood 103:1573-1579(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH CUBN, TISSUE SPECIFICITY.
[6]"Imerslund-Grasbeck syndrome: new mutation in amnionless."
Densupsoontorn N., Sanpakit K., Vijarnsorn C., Pattaragarn A., Kangwanpornsiri C., Jatutipsompol C., Tirapongporn H., Jirapinyo P., Shah N.P., Sturm A.C., Tanner S.M.
Pediatr. Int. 54:E19-E21(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RH-MGA1.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF328788 mRNA. Translation: AAK28532.1.
AL117209 Genomic DNA. No translation available.
AY358468 mRNA. Translation: AAQ89949.1.
RefSeqNP_112205.2. NM_030943.3.
UniGeneHs.534494.

3D structure databases

ProteinModelPortalQ9BXJ7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123571. 1 interaction.
STRING9606.ENSP00000299155.

Chemistry

DrugBankDB00115. Cyanocobalamin.
DB00200. Hydroxocobalamin.

PTM databases

PhosphoSiteQ9BXJ7.

Polymorphism databases

DMDM296434395.

Proteomic databases

PaxDbQ9BXJ7.
PRIDEQ9BXJ7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299155; ENSP00000299155; ENSG00000166126. [Q9BXJ7-1]
GeneID81693.
KEGGhsa:81693.
UCSCuc001ymg.4. human. [Q9BXJ7-1]

Organism-specific databases

CTD81693.
GeneCardsGC14P103388.
H-InvDBHIX0011994.
HGNCHGNC:14604. AMN.
HPAHPA000817.
MIM261100. phenotype.
605799. gene.
neXtProtNX_Q9BXJ7.
Orphanet35858. Grasbeck-Imerslund disease.
PharmGKBPA134962814.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82604.
HOGENOMHOG000033922.
HOVERGENHBG037321.
InParanoidQ9BXJ7.
OMALQVAVSK.
OrthoDBEOG7ZGX2W.
PhylomeDBQ9BXJ7.
TreeFamTF323790.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9BXJ7.
BgeeQ9BXJ7.
CleanExHS_AMN.
GenevestigatorQ9BXJ7.

Family and domain databases

InterProIPR026112. AMN.
[Graphical view]
PANTHERPTHR14995. PTHR14995. 1 hit.
ProtoNetSearch...

Other

GeneWikiAmnionless.
GenomeRNAi81693.
NextBio72043.
PROQ9BXJ7.
SOURCESearch...

Entry information

Entry nameAMNLS_HUMAN
AccessionPrimary (citable) accession number: Q9BXJ7
Secondary accession number(s): Q6UX83
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM