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Amer1 Gene Detail
Summary
  • Symbol
    Amer1
  • Name
    APC membrane recruitment 1
  • Synonyms
    2810002O09Rik, Amer1, Fam123b, Wtx
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919595
    NCBI Gene: 72345
Location & Maps
more
  • Sequence Map
    ChrX:95420318-95444872 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24555 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AMER1, APC membrane recruitment protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AMER1, APC membrane recruitment protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FAM123B, OSCS, WTX
  • Links
    NCBI Gene ID: 139285
    neXtProt AC: NX_Q5JTC6

  • Chr Location
    Xq11.2; chrX:64185117-64206398 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Amer1 mouse models; 1 with human AMER1 associations

Human Disease Mouse Models
       Osteopathia Striata with Cranial Sclerosis; OSCS   OMIM: 300373 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Gene trapped
    1
  • Targeted
    3
  • Incidental Mutations
    APF , CvDC
Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018053 VEGA Gene Model | MGI Sequence Detail 24555 C57BL/6J ±  kb
transcript OTTMUST00000043578 VEGA | MGI Sequence Detail 8496 Not Applicable  
polypeptide OTTMUSP00000019582 VEGA | MGI Sequence Detail 1132 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    73 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000029267 APC membrane recruitment protein 1
  • InterPro Domains
    IPR019003 Uncharacterised protein family FAM123
Molecular
Reagents
less
  • All nucleic 36
    cDNA 35
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2148012
References
more
  • Summaries
    All 28
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 4
    Phenotypes 5
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory