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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:94463919-94488446 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 41.99 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    377 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919595
 protein coding gene ChrX:94463919-94488478 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035917
 protein coding gene ChrX:91753562-91780375 (-)
A/J MGP_AJ_G0035903
 protein coding gene ChrX:91969196-91995310 (-)
AKR/J MGP_AKRJ_G0035819
 protein coding gene ChrX:94395420-94420940 (-)
BALB/cJ MGP_BALBcJ_G0035887
 protein coding gene ChrX:90721559-90745351 (-)
C3H/HeJ MGP_C3HHeJ_G0035595
 protein coding gene ChrX:92263142-92289390 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036416
 protein coding gene ChrX:94686009-94709971 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033244
 protein coding gene ChrX:90051307-90071924 (-)
CAST/EiJ MGP_CASTEiJ_G0034881
 protein coding gene ChrX:76797608-76819310 (-)
CBA/J MGP_CBAJ_G0035570
 protein coding gene ChrX:97438345-97461457 (-)
DBA/2J MGP_DBA2J_G0035725
 protein coding gene ChrX:91144784-91165685 (-)
FVB/NJ MGP_FVBNJ_G0035663
 protein coding gene ChrX:90570296-90594834 (-)
LP/J MGP_LPJ_G0035815
 protein coding gene ChrX:92746953-92767819 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035698
 protein coding gene ChrX:101797502-101818397 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036443
 protein coding gene ChrX:91488906-91515341 (-)
PWK/PhJ MGP_PWKPhJ_G0034580
 protein coding gene ChrX:74462109-74485467 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034409
 protein coding gene ChrX:77578193-77601469 (-)
WSB/EiJ MGP_WSBEiJ_G0035021
 protein coding gene ChrX:90357052-90382005 (-)



Homology
more
  • Human Ortholog
    AMER1, APC membrane recruitment protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AMER1, APC membrane recruitment protein 1
  • Synonyms
    FAM123B, OSCS, WTX
  • Links
    NCBI Gene ID: 139285
    neXtProt AC: NX_Q5JTC6
    UniProt: Q5JTC6

  • Chr Location
    Xq11.2; chrX:64185117-64205708 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Amer1 mouse models; 2 with human AMER1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    58 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    31
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    862
  • Tissues
    108
  • cDNA Data
    36
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72345 NCBI Gene Model | MGI Sequence Detail 24528 C57BL/6J ±  kb
    transcript NM_175179 RefSeq | MGI Sequence Detail 8476 C57BL/6  
    polypeptide Q7TS75 UniProt | EBI | MGI Sequence Detail 1132 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 36
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2148012
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 7
      Phenotypes 7
    • 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:262799 Comai G, et al., Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles. J Bone Miner Res. 2018 May;33(5):875-887
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory