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Q9BXJ7

- AMNLS_HUMAN

UniProt

Q9BXJ7 - AMNLS_HUMAN

Protein

Protein amnionless

Gene

AMN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. receptor binding Source: UniProt

    GO - Biological processi

    1. cobalamin metabolic process Source: Reactome
    2. cobalamin transport Source: UniProt
    3. excretion Source: Ensembl
    4. Golgi to plasma membrane protein transport Source: UniProt
    5. lipoprotein metabolic process Source: Reactome
    6. multicellular organismal development Source: UniProtKB-KW
    7. receptor-mediated endocytosis Source: UniProt
    8. small molecule metabolic process Source: Reactome
    9. vitamin metabolic process Source: Reactome
    10. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Developmental protein

    Enzyme and pathway databases

    ReactomeiREACT_13621. HDL-mediated lipid transport.
    REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    REACT_169132. Defective CUBN causes hereditary megaloblastic anemia 1.
    REACT_169280. Defective AMN causes hereditary megaloblastic anemia 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein amnionless
    Gene namesi
    Name:AMN
    ORF Names:UNQ513/PRO1028
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:14604. AMN.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProt
    2. endocytic vesicle Source: UniProt
    3. endosome membrane Source: Reactome
    4. extracellular space Source: UniProt
    5. extracellular vesicular exosome Source: UniProt
    6. integral component of membrane Source: UniProtKB-KW
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411T → I in RH-MGA1. 1 Publication
    Corresponds to variant rs28939377 [ dbSNP | Ensembl ].
    VAR_015733

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi261100. phenotype.
    Orphaneti35858. Grasbeck-Imerslund disease.
    PharmGKBiPA134962814.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919Sequence AnalysisAdd
    BLAST
    Chaini20 – 453434Protein amnionlessPRO_0000020702Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi35 – 351N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9BXJ7.
    PaxDbiQ9BXJ7.
    PRIDEiQ9BXJ7.

    PTM databases

    PhosphoSiteiQ9BXJ7.

    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

    ArrayExpressiQ9BXJ7.
    BgeeiQ9BXJ7.
    CleanExiHS_AMN.
    GenevestigatoriQ9BXJ7.

    Organism-specific databases

    HPAiHPA000817.

    Interactioni

    Subunit structurei

    Interacts with CUBN/cubilin.1 Publication

    Protein-protein interaction databases

    BioGridi123571. 1 interaction.
    STRINGi9606.ENSP00000299155.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BXJ7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini20 – 357338ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini379 – 45375CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei358 – 37821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini202 – 25453VWFCAdd
    BLAST

    Sequence similaritiesi

    Contains 1 VWFC domain.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG82604.
    HOGENOMiHOG000033922.
    HOVERGENiHBG037321.
    InParanoidiQ9BXJ7.
    KOiK18259.
    OMAiFDNPMFD.
    OrthoDBiEOG7ZGX2W.
    PhylomeDBiQ9BXJ7.
    TreeFamiTF323790.

    Family and domain databases

    InterProiIPR026112. AMN.
    [Graphical view]
    PANTHERiPTHR14995. PTHR14995. 1 hit.

    Sequencei

    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. Align

    Note: At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.

    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.

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    MGVLGRVLLW LQLCALTQAV SKLWVPNTDF DVAANWSQNR TPCAGGAVEF    50
    PADKMVSVLV QEGHAVSDML LPLDGELVLA SGAGFGVSDV GSHLDCGAGE 100
    PAVFRDSDRF SWHDPHLWRS GDEAPGLFFV DAERVPCRHD DVFFPPSASF 150
    RVGLGPGASP VRVRSISALG RTFTRDEDLA VFLASRAGRL RFHGPGALSV 200
    GPEDCADPSG CVCGNAEAQP WICAALLQPL GGRCPQAACH SALRPQGQCC 250
    DLCGAVVLLT HGPAFDLERY RARILDTFLG LPQYHGLQVA VSKVPRSSRL 300
    READTEIQVV LVENGPETGG AGRLARALLA DVAENGEALG VLEATMRESG 350
    AHVWGSSAAG LAGGVAAAVL LALLVLLVAP PLLRRAGRLR WRRHEAAAPA 400
    GAPLGFRNPV FDVTASEELP LPRRLSLVPK AAADSTSHSY FVNPLFAGAE 450
    AEA 453
    Length:453
    Mass (Da):47,754
    Last modified:May 18, 2010 - v2
    Checksum:i40AA14EF186A6009
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti241 – 2411S → F in AAK28532. (PubMed:11279523)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411T → I in RH-MGA1. 1 Publication
    Corresponds to variant rs28939377 [ dbSNP | Ensembl ].
    VAR_015733

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.4. human. [Q9BXJ7-1]

    Polymorphism databases

    DMDMi296434395.

    Keywords - Coding sequence diversityi

    Alternative promoter usage

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF328788 mRNA. Translation: AAK28532.1 .
    AL117209 Genomic DNA. No translation available.
    AY358468 mRNA. Translation: AAQ89949.1 .
    CCDSi CCDS9977.1. [Q9BXJ7-1 ]
    RefSeqi NP_112205.2. NM_030943.3. [Q9BXJ7-1 ]
    UniGenei Hs.534494.

    3D structure databases

    ProteinModelPortali Q9BXJ7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123571. 1 interaction.
    STRINGi 9606.ENSP00000299155.

    Chemistry

    DrugBanki DB00115. Cyanocobalamin.
    DB00200. Hydroxocobalamin.

    PTM databases

    PhosphoSitei Q9BXJ7.

    Polymorphism databases

    DMDMi 296434395.

    Proteomic databases

    MaxQBi Q9BXJ7.
    PaxDbi Q9BXJ7.
    PRIDEi Q9BXJ7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299155 ; ENSP00000299155 ; ENSG00000166126 . [Q9BXJ7-1 ]
    GeneIDi 81693.
    KEGGi hsa:81693.
    UCSCi uc001ymg.4. human. [Q9BXJ7-1 ]

    Organism-specific databases

    CTDi 81693.
    GeneCardsi GC14P103388.
    H-InvDB HIX0011994.
    HGNCi HGNC:14604. AMN.
    HPAi HPA000817.
    MIMi 261100. phenotype.
    605799. gene.
    neXtProti NX_Q9BXJ7.
    Orphaneti 35858. Grasbeck-Imerslund disease.
    PharmGKBi PA134962814.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82604.
    HOGENOMi HOG000033922.
    HOVERGENi HBG037321.
    InParanoidi Q9BXJ7.
    KOi K18259.
    OMAi FDNPMFD.
    OrthoDBi EOG7ZGX2W.
    PhylomeDBi Q9BXJ7.
    TreeFami TF323790.

    Enzyme and pathway databases

    Reactomei REACT_13621. HDL-mediated lipid transport.
    REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    REACT_169132. Defective CUBN causes hereditary megaloblastic anemia 1.
    REACT_169280. Defective AMN causes hereditary megaloblastic anemia 1.

    Miscellaneous databases

    GeneWikii Amnionless.
    GenomeRNAii 81693.
    NextBioi 72043.
    PROi Q9BXJ7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BXJ7.
    Bgeei Q9BXJ7.
    CleanExi HS_AMN.
    Genevestigatori Q9BXJ7.

    Family and domain databases

    InterProi IPR026112. AMN.
    [Graphical view ]
    PANTHERi PTHR14995. PTHR14995. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. Cited for: INVOLVEMENT IN RH-MGA1.

    Entry informationi

    Entry nameiAMNLS_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXJ7
    Secondary accession number(s): Q6UX83
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2003
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 102 of the entry and version 2 of the sequence. [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

    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.

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3