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Entry version 137 (13 Feb 2019)
Sequence version 2 (18 May 2010)
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Protein

Protein amnionless

Gene

AMN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • signaling receptor binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein amnionless
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMN
ORF Names:UNQ513/PRO1028
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000166126.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14604 AMN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605799 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BXJ7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 357ExtracellularSequence analysisAdd BLAST338
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei358 – 378HelicalSequence analysisAdd BLAST21
Topological domaini379 – 453CytoplasmicSequence analysisAdd BLAST75

Keywords - Cellular componenti

Cell membrane, Coated pit, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01573341T → I in RH-MGA1. 1 PublicationCorresponds to variant dbSNP:rs119478058EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
81693

MalaCards human disease database

More...
MalaCardsi
AMN
MIMi261100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000166126

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
35858 Imerslund-Graesbeck syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134962814

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00115 Cyanocobalamin
DB00200 Hydroxocobalamin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434395

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002070220 – 453Protein amnionlessAdd BLAST434

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BXJ7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BXJ7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BXJ7

PeptideAtlas

More...
PeptideAtlasi
Q9BXJ7

PRoteomics IDEntifications database

More...
PRIDEi
Q9BXJ7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79440

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BXJ7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BXJ7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166126 Expressed in 211 organ(s), highest expression level in mucosa of transverse colon

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BXJ7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BXJ7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000817

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CUBN/cubilin.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123571, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9BXJ7

Protein interaction database and analysis system

More...
IntActi
Q9BXJ7, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000299155

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6GJEX-ray2.30A1-453[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BXJ7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BXJ7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini202 – 254VWFCAdd BLAST53

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II2Q Eukaryota
ENOG410XS7P LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000007463

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000033922

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG037321

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BXJ7

KEGG Orthology (KO)

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KOi
K18259

Identification of Orthologs from Complete Genome Data

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OMAi
RPEGQCC

Database of Orthologous Groups

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OrthoDBi
827066at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BXJ7

TreeFam database of animal gene trees

More...
TreeFami
TF323790

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026112 AMN

The PANTHER Classification System

More...
PANTHERi
PTHR14995 PTHR14995, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14828 Amnionless, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 1 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i40AA14EF186A6009
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YMX8H0YMX8_HUMAN
Protein amnionless
AMN
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF328788 mRNA Translation: AAK28532.1
AL117209 Genomic DNA No translation available.
AY358468 mRNA Translation: AAQ89949.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9977.1 [Q9BXJ7-1]

NCBI Reference Sequences

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RefSeqi
NP_112205.2, NM_030943.3 [Q9BXJ7-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.534494

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000299155; ENSP00000299155; ENSG00000166126 [Q9BXJ7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
81693

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:81693

UCSC genome browser

More...
UCSCi
uc001ymg.5 human [Q9BXJ7-1]

Keywords - Coding sequence diversityi

Alternative promoter usage

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6GJEX-ray2.30A1-453[»]
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

jPOSTiQ9BXJ7
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

Comparative Toxicogenomics Database

More...
CTDi
81693
DisGeNETi81693
EuPathDBiHostDB:ENSG00000166126.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMN

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0011994
HGNCiHGNC:14604 AMN
HPAiHPA000817
MalaCardsiAMN
MIMi261100 phenotype
605799 gene
neXtProtiNX_Q9BXJ7
OpenTargetsiENSG00000166126
Orphaneti35858 Imerslund-Graesbeck syndrome
PharmGKBiPA134962814

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410II2Q Eukaryota
ENOG410XS7P LUCA
GeneTreeiENSGT00390000007463
HOGENOMiHOG000033922
HOVERGENiHBG037321
InParanoidiQ9BXJ7
KOiK18259
OMAiRPEGQCC
OrthoDBi827066at2759
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

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Amnionless

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
81693

Protein Ontology

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PROi
PR:Q9BXJ7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000166126 Expressed in 211 organ(s), highest expression level in mucosa of transverse colon
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMNLS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BXJ7
Secondary accession number(s): Q6UX83
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: February 13, 2019
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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