Fam50a family with sequence similarity 50, member A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fam50aprovided by MGI
Official Full Name: family with sequence similarity 50, member Aprovided by MGI
Primary source: MGI:MGI:1351626
See related: Ensembl:ENSMUSG00000001962 AllianceGenome:MGI:1351626
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: XAP-5; D0HXS9928E
Summary: Predicted to be involved in chromatin organization and regulation of RNA splicing. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Armfield syndrome. Orthologous to human FAM50A (family with sequence similarity 50 member A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 17.7), CNS E11.5 (RPKM 17.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.98 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (73356589..73363761)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (74313033..74320149)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Fam50a might be a new positive regulator of ameloblast differentiation, increasing binding affinity of Runx2 to Ambn promoter by physically interacting with Runx2.
Title: The Fam50a positively regulates ameloblast differentiation via interacting with Runx2.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

General gene information

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Markers

RH132835 (e-PCR)
- UniSTS:216118

NoName (e-PCR)
- UniSTS:491574

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in regulation of RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in regulation of RNA splicing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: protein FAM50A

Names: protein XAP-5

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_138607.3 → NP_613073.2 protein FAM50A

See identical proteins and their annotated locations for NP_613073.2

Status: VALIDATED

Source sequence(s)

AK008402, Y18505

Consensus CDS

CCDS41021.1

UniProtKB/Swiss-Prot

Q9D866, Q9WV03

UniProtKB/TrEMBL

A0A158SIT3

Related

ENSMUSP00000109797.2, ENSMUST00000114160.2

Conserved Domains (1) summary

pfam04921
Location:152 → 338

XAP5; circadian clock regulator

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

73356589..73363761

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161770.1 → XP_036017663.1 protein FAM50A isoform X1

UniProtKB/Swiss-Prot

Q9D866, Q9WV03

UniProtKB/TrEMBL

A0A158SIT3

Conserved Domains (1) summary

pfam04921
Location:152 → 338

XAP5; circadian clock regulator