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 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:109437414-109683461 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(4) : Targeted(2) Gene trapped(2)
Phenotype Images(5)

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 Type	Results
Northern blot	6

cDNA source data(35)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(39) Genomic(1) cDNA(36) Other(2)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000018861 (Evidence)
Ensembl Gene Model	ENSMUSG00000042225 (Evidence)
Entrez Gene	56068 (Evidence)
UniGene	143724
DFCI	TC1584748, TC1586824
DoTS	DT.487865
NIA Mouse Gene Index	U039754, U377985
Consensus CDS Project	CCDS30452.1
International Mouse Knockout Project Status	Ammecr1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018861	VEGA Gene Model | MGI Sequence Detail	115583	C57BL/6J
transcript	OTTMUST00000045376	VEGA | MGI Sequence Detail	5437	Not Applicable
polypeptide	OTTMUSP00000020416	VEGA | MGI Sequence Detail	344	Not Applicable

All sequences(24) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(558 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR023473	AMMECR1
InterPro	IPR002733	AMMECR1 domain
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