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Ammecr1
Gene Detail
 Symbol
Name
ID
Ammecr1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
MGI:1860206
Synonyms 6230420G18Rik
Feature Type protein coding gene
Genetic Map
Chromosome X
63.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:142851146-142966728 bp, - strand
From VEGA annotation of GRCm38

  115583 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68944  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: uncharacterized conserved protein, AMMECR1 type
Gene Tree: Ammecr1

Human
homologs
Human Homolog AMMECR1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
NCBI Gene ID 9949
neXtProt AC  NX_Q9Y4X0
Human Synonyms  AMMERC1
Human Chr (Location)  Xq22.3; chrX:110194186-110440233 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(2) Targeted(2)
 
Male chimeras hemizygous for a gene trapped allele appear normal at E9.5.
 
Phenotype Images(5)
Interactions
Ammecr1 interacts with 478 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (3 annotations)
Process biological_process
Component cellular_component
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (6)    Tissues (6)   
Theiler Stages: 28
Assay TypeResults
Northern blot 6
cDNA source data(23)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(27) Genomic(1) cDNA(24) Other(2)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000018861 (Evidence)
Ensembl Gene ModelENSMUSG00000042225 (Evidence)
Entrez Gene56068 (Evidence)
UniGene143724
DFCITC1584748, TC1586824
DoTSDT.487865
NIA Mouse Gene IndexU039754, U377985
Consensus CDS ProjectCCDS30452.1
International Mouse Knockout Project StatusAmmecr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018861 VEGA Gene Model | MGI Sequence Detail 115583 C57BL/6J ±  kb
transcript OTTMUST00000045376 VEGA | MGI Sequence Detail 5437 Not Applicable 
polypeptide OTTMUSP00000020416 VEGA | MGI Sequence Detail 344 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(606 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023473 AMMECR1
InterPro IPR002733 AMMECR1 domain
InterPro IPR027485 AMMECR1, N-terminal
Protein Ontology PR:000003994 AMME syndrome candidate gene 1 protein
References (Earliest) J:62787 Vitelli F, et al., Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Cytogenet Cell Genet. 2000;88(3-4):259-63
(Latest) J:163340 Cox BJ, et al., Phenotypic annotation of the mouse X chromosome. Genome Res. 2010 Aug;20(8):1154-64
All references(29)
Other
accession IDs
MGI:1923390

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
09/16/2014
MGI 5.19
The Jackson Laboratory