Human Gene AMN (ENST00000299155.10) from GENCODE V44
Description: Homo sapiens amnion associated transmembrane protein (AMN), mRNA. (from RefSeq NM_030943) RefSeq Summary (NM_030943): 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]. Gencode Transcript: ENST00000299155.10 Gencode Gene: ENSG00000166126.11 Transcript (Including UTRs) Position: hg38 chr14:102,922,663-102,930,842 Size: 8,180 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr14:102,922,689-102,930,680 Size: 7,992 Coding Exon Count: 12
ID:AMNLS_HUMAN DESCRIPTION: RecName: Full=Protein amnionless; Flags: Precursor; FUNCTION: 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). SUBUNIT: Interacts with CUBN/cubilin. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). 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. DISEASE: Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]; also known as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). RH-MGA1 is 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. 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. SIMILARITY: Contains 1 VWFC domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMN";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BXJ7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006898 receptor-mediated endocytosis GO:0007275 multicellular organism development GO:0007588 excretion GO:0008104 protein localization GO:0009235 cobalamin metabolic process GO:0015031 protein transport GO:0015889 cobalamin transport GO:0034384 high-density lipoprotein particle clearance GO:0043001 Golgi to plasma membrane protein transport