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Q9BXJ7

- AMNLS_HUMAN

UniProt

Q9BXJ7 - AMNLS_HUMAN

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Protein

Protein amnionless

Gene

AMN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BXJ7.
CleanExiHS_AMN.
ExpressionAtlasiQ9BXJ7. baseline and differential.
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.
GeneTreeiENSGT00390000007463.
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.

« 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

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.
GeneTreei ENSGT00390000007463.
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

Bgeei Q9BXJ7.
CleanExi HS_AMN.
ExpressionAtlasi Q9BXJ7. baseline and differential.
Genevestigatori Q9BXJ7.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 103 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