Q9BXJ7 · AMNLS_HUMAN
- ProteinProtein amnionless
- GeneAMN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids453 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915).
The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326).
Required for normal CUBN-mediated protein transport in the kidney (Probable)
Miscellaneous
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | apical plasma membrane | |
Cellular Component | brush border membrane | |
Cellular Component | clathrin-coated pit | |
Cellular Component | endocytic vesicle | |
Cellular Component | endosome membrane | |
Cellular Component | extracellular exosome | |
Cellular Component | extracellular space | |
Cellular Component | membrane | |
Cellular Component | microvillus membrane | |
Cellular Component | plasma membrane | |
Cellular Component | receptor complex | |
Molecular Function | cargo receptor activity | |
Molecular Function | signaling receptor binding | |
Biological Process | cobalamin metabolic process | |
Biological Process | cobalamin transport | |
Biological Process | Golgi to plasma membrane protein transport | |
Biological Process | protein localization | |
Biological Process | receptor-mediated endocytosis | |
Biological Process | renal protein absorption |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProtein amnionless
- Cleaved into 1 chains
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BXJ7
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Isoform 1
Soluble protein amnionless
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 20-357 | Extracellular | ||||
Sequence: VSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRLREADTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESGAHVWGSS | ||||||
Transmembrane | 358-378 | Helical | ||||
Sequence: AAGLAGGVAAAVLLALLVLLV | ||||||
Topological domain | 379-453 | Cytoplasmic | ||||
Sequence: APPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Imerslund-Grasbeck syndrome 2 (IGS2)
- Note
- DescriptionA form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.
- See alsoMIM:618882
Natural variants in IGS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_015733 | 41 | T>I | in IGS2; reduced presence at the cell membrane; loss of interaction with CUBN; reduced CUBN expression at the cell surface; dbSNP:rs119478058 | |
VAR_081906 | 69 | M>K | in IGS2; loss of interaction with CUBN; strongly reduced CUBN expression at the cell surface; dbSNP:rs375774640 | |
VAR_081907 | 234 | C>F | in IGS2; loss of interaction with CUBN; strongly reduced CUBN expression at the cell surface; dbSNP:rs386834176 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 35 | Loss of expression at the cell membrane. | ||||
Sequence: N → Q | ||||||
Mutagenesis | 37 | No effect. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_015733 | 41 | in IGS2; reduced presence at the cell membrane; loss of interaction with CUBN; reduced CUBN expression at the cell surface; dbSNP:rs119478058 | |||
Sequence: T → I | ||||||
Mutagenesis | 59 | Loss of interaction with CUBN and strongly reduced CUBN expression at the cell surface. | ||||
Sequence: L → P | ||||||
Natural variant | VAR_081906 | 69 | in IGS2; loss of interaction with CUBN; strongly reduced CUBN expression at the cell surface; dbSNP:rs375774640 | |||
Sequence: M → K | ||||||
Natural variant | VAR_081907 | 234 | in IGS2; loss of interaction with CUBN; strongly reduced CUBN expression at the cell surface; dbSNP:rs386834176 | |||
Sequence: C → F | ||||||
Mutagenesis | 254 | Loss of interaction with CUBN and strongly reduced CUBN expression at the cell surface. | ||||
Sequence: G → E |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 630 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-19 | |||||
Sequence: MGVLGRVLLWLQLCALTQA | ||||||
Chain | PRO_0000447651 | 20-? | Soluble protein amnionless | |||
Sequence: MGVLGRVLLWLQLCALTQA | ||||||
Chain | PRO_0000020702 | 20-453 | Protein amnionless | |||
Sequence: VSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRLREADTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALLVLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA | ||||||
Glycosylation | 35 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 43↔96 | |||||
Sequence: CAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDC | ||||||
Disulfide bond | 137↔213 | |||||
Sequence: CRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVC | ||||||
Disulfide bond | 205↔211 | |||||
Sequence: CADPSGC | ||||||
Disulfide bond | 223↔249 | |||||
Sequence: CAALLQPLGGRCPQAACHSALRPQGQC | ||||||
Disulfide bond | 234↔250 | |||||
Sequence: CPQAACHSALRPQGQCC | ||||||
Disulfide bond | 239↔253 | |||||
Sequence: CHSALRPQGQCCDLC |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
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
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BXJ7 | CUBN O60494 | 3 | EBI-11510881, EBI-3953632 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 67-87 | Interaction with CUBN | ||||
Sequence: SDMLLPLDGELVLASGAGFGV | ||||||
Domain | 202-254 | VWFC | ||||
Sequence: PEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCG |
Domain
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 1 isoforms produced by Alternative promoter usage. At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.
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.
- Name1
- Length453
- Mass (Da)47,754
- Last updated2010-05-18 v2
- Checksum40AA14EF186A6009
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 241 | in Ref. 1; AAK28532 | ||||
Sequence: S → F |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF328788 EMBL· GenBank· DDBJ | AAK28532.1 EMBL· GenBank· DDBJ | mRNA | ||
AL117209 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AY358468 EMBL· GenBank· DDBJ | AAQ89949.1 EMBL· GenBank· DDBJ | mRNA |