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

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, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 3.7), liver E14.5 (RPKM 3.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-39h11 (e-PCR)
- UniSTS:258400

RH128278 (e-PCR)
- UniSTS:211586

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	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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.