Format

Send to:

Choose Destination

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

Gene ID: 81693, updated on 17-Jun-2019

Summary

Official Symbol
AMNprovided by HGNC
Official Full Name
amnion associated transmembrane proteinprovided by HGNC
Primary source
HGNC:HGNC:14604
See related
Ensembl:ENSG00000166126 MIM:605799
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRO1028; amnionless
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]
Expression
Biased expression in kidney (RPKM 39.0), small intestine (RPKM 30.0) and 4 other tissues See more
Orthologs

Genomic context

See AMN in Genome Data Viewer
Location:
14q32.32
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (102922430..102933597)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103388993..103397179)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene REST corepressor 1 Neighboring gene ribosomal protein L23a pseudogene 11 Neighboring gene TNF receptor associated factor 3 Neighboring gene RNA, U6 small nuclear 1316, pseudogene Neighboring gene CDC42 binding protein kinase beta Neighboring gene ribosomal protein L13 pseudogene 6 Neighboring gene LBH domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were du...
  • Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et...
  • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
    Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
  • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
    Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane protein transport IDA
Inferred from Direct Assay
more info
PubMed 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
cobalamin transport IDA
Inferred from Direct Assay
more info
PubMed 
excretion IEA
Inferred from Electronic Annotation
more info
 
high-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein amnionless
Names
amnionless homolog
visceral endoderm-specific type 1 transmembrane protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008276.2 RefSeqGene

    Range
    5001..13187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_642

mRNA and Protein(s)

  1. NM_030943.3NP_112205.2  protein amnionless precursor

    See identical proteins and their annotated locations for NP_112205.2

    Status: REVIEWED

    Source sequence(s)
    AF328788, AL117209, BC029948, CB306421
    Consensus CDS
    CCDS9977.1
    UniProtKB/Swiss-Prot
    Q9BXJ7
    Related
    ENSP00000299155.5, ENST00000299155.9
    Conserved Domains (1) summary
    pfam14828
    Location:22447
    Amnionless; Amnionless

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    102922430..102933597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537202.3XP_011535504.1  protein amnionless isoform X2

    See identical proteins and their annotated locations for XP_011535504.1

    UniProtKB/TrEMBL
    B3KP64
    Conserved Domains (1) summary
    pfam14828
    Location:1393
    Amnionless; Amnionless
  2. XM_024449714.1XP_024305482.1  protein amnionless isoform X1

    Conserved Domains (1) summary
    pfam14828
    Location:54479
    Amnionless
  3. XM_011537203.3XP_011535505.1  protein amnionless isoform X2

    See identical proteins and their annotated locations for XP_011535505.1

    UniProtKB/TrEMBL
    B3KP64
    Conserved Domains (1) summary
    pfam14828
    Location:1393
    Amnionless; Amnionless
Support Center