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AMN amnion associated transmembrane protein [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_030943 Homo sapiens amnion associated transmembrane protein (AMN), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol AMN
Entrez Gene ID 81693
Full Name amnion associated transmembrane protein
Synonyms PRO1028, amnionless
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q32.3

Summary The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008].
Disorder

MIM: 605799

Megaloblastic anemia-1, Norwegian type, 261100 (3)

mRNA Protein Product Sequence Price Select
NM_030943, 189095273 NP_112205, 110611172 protein amnionless precursor ORF Sequence $550.00
Reactome
REACT_13621HDL-mediated lipid transport
REACT_602Lipid digestion, mobilization, and transport
REACT_6823Lipoprotein metabolism
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11193Metabolism of vitamins and cofactors
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116125Disease
REACT_163862Cobalamin (Cbl, vitamin B12) transport and metabolism
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)AMNNP_112205.2
Pan troglodytes (chimpanzee)AMNXP_510179.2
Bos taurus (cattle)AMNNP_001070509.1
Mus musculus (house mouse)AmnNP_291081.2
Rattus norvegicus (Norway rat)AmnNP_001101531.1
Gallus gallus (chicken)AMNNP_001264445.1
Danio rerio (zebrafish)amnXP_002661318.2
Xenopus (Silurana) tropicalis (western clawed frog)amnXP_002938043.1
Process
IDNameEvidence
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0006898receptor-mediated endocytosisIDA
GO:0007275multicellular organismal developmentIEA
GO:0007588excretionIEA
GO:0009235cobalamin metabolic processTAS
GO:0015889cobalamin transportIDA
GO:0042157lipoprotein metabolic processTAS
GO:0043001Golgi to plasma membrane protein transportIDA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005615extracellular spaceIDA
GO:0005886plasma membraneTAS
GO:0010008endosome membraneTAS
GO:0016021integral component of membraneIEA
GO:0016324apical plasma membraneIDA
GO:0030139endocytic vesicleIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005102receptor bindingIPI
GeneCards AMN
UniProt Q9BXJ7
Vega OTTHUMG00000171897
MIM 605799
Ensembl ENSG00000166126
HGNC 14604
HPRD 09314

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the AMN gene?

The AMN gene provides instructions for making a protein called amnionless. This protein is involved in the uptake of vitamin B12 (also called cobalamin) from food. Vitamin B12, which cannot be made in the body and can only be obtained from food, is essential for the formation of DNA and proteins, the production of cellular energy, and the breakdown of fats. This vitamin is involved in the formation of red blood cells and maintenance of the brain and spinal cord (central nervous system).

The amnionless protein is primarily found embedded in the outer membrane of kidney cells and cells that line the small intestine. Amnionless attaches (binds) to another protein called cubilin, anchoring cubilin to the cell membrane. Cubilin can interact with molecules and proteins passing through the intestine or kidneys. During digestion, vitamin B12 is released from food. As the vitamin passes through the small intestine, cubilin binds to it. Amnionless helps transfer the cubilin-vitamin B12 complex into the intestinal cell. From there, the vitamin is released into the blood and transported throughout the body. In the kidneys, amnionless and cubilin are involved in the reabsorption of certain proteins that would otherwise be released in urine.

Interactant

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