Rptn repetin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rptnprovided by MGI
Official Full Name: repetinprovided by MGI
Primary source: MGI:MGI:1099055
See related: Ensembl:ENSMUSG00000041984 AllianceGenome:MGI:1099055
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
Summary: Predicted to enable calcium ion binding activity and transition metal ion binding activity. Located in cornified envelope. Is expressed in limb digit and skin. Orthologous to human RPTN (repetin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lung adult (RPKM 9.8), stomach adult (RPKM 3.5) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 40.51 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (93301006..93306749)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (93393699..93399442)

Chromosome 3 - NC_000069.7 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

What's a GeneRIF?

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Variation

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Alleles

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

Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cornified envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: repetin

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)

NM_009100.2 → NP_033126.2 repetin

See identical proteins and their annotated locations for NP_033126.2

Status: VALIDATED

Source sequence(s)

AC123859, AK009579

Consensus CDS

CCDS17581.1

UniProtKB/Swiss-Prot

G3X968, P97347

Related

ENSMUSP00000044998.3, ENSMUST00000045912.3

Conserved Domains (3) summary

cd00213
Location:2 → 89

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...

pfam03157
Location:322 → 843

Glutenin_hmw; High molecular weight glutenin subunit

cl21514
Location:976 → 1061

TauE; Sulfite exporter TauE/SafE