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Ammecr1 AMMECR nuclear protein 1 [ Mus musculus (house mouse) ]

Gene ID: 56068, updated on 5-Mar-2024

Summary

Official Symbol
Ammecr1provided by MGI
Official Full Name
AMMECR nuclear protein 1provided by MGI
Primary source
MGI:MGI:1860206
See related
Ensembl:ENSMUSG00000042225 AllianceGenome:MGI:1860206
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
6230420G18Rik
Summary
Predicted to be located in mitochondrion and nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Orthologous to human AMMECR1 (AMMECR nuclear protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E14 (RPKM 3.7), liver E14.5 (RPKM 3.0) and 28 other tissues See more
Orthologs
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Genomic context

See Ammecr1 in Genome Data Viewer
Location:
X F2; X 63.74 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (141634142..141749722, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (142851146..142966726, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene transmembrane protein 164 Neighboring gene microRNA 652 Neighboring gene POU domain, class 5, transcription factor 1, related sequence 13 Neighboring gene STARR-seq mESC enhancer starr_48025 Neighboring gene STARR-seq mESC enhancer starr_48026 Neighboring gene retrotransposon Gag like 9 Neighboring gene STARR-seq mESC enhancer starr_48027 Neighboring gene actin, beta pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
nuclear protein AMMECR1
Names
AMME syndrome candidate gene 1 protein homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_019496.4NP_062369.1  nuclear protein AMMECR1

    See identical proteins and their annotated locations for NP_062369.1

    Status: VALIDATED

    Source sequence(s)
    AL731548, AL731674
    Consensus CDS
    CCDS30452.1
    UniProtKB/Swiss-Prot
    Q9JHT5
    Related
    ENSMUSP00000036085.3, ENSMUST00000041317.3
    Conserved Domains (1) summary
    pfam01871
    Location:142312
    AMMECR1; AMMECR1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    141634142..141749722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)