Fam20a FAM20A, golgi associated secretory pathway pseudokinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fam20aprovided by MGI
Official Full Name: FAM20A, golgi associated secretory pathway pseudokinaseprovided by MGI
Primary source: MGI:MGI:2388266
See related: Ensembl:ENSMUSG00000020614 AllianceGenome:MGI:2388266
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 protein serine/threonine kinase activator activity. Involved in positive regulation of protein phosphorylation. Acts upstream of or within enamel mineralization and response to bacterium. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1G. Orthologous to human FAM20A (FAM20A golgi associated secretory pathway pseudokinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 14.5), duodenum adult (RPKM 11.5) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E1; 11 72.37 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (109563752..109613989, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (109669746..109723163, complement)

Chromosome 11 - NC_000077.7 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?

Epithelial-specific deletion of FAM20A leads to short root defects.
Title: Epithelial-specific deletion of FAM20A leads to short root defects.
The effect and mechanism of gene Fam20a on the development and function of salivary glands in mice.
Title: The effect and mechanism of gene Fam20a on the development and function of salivary glands in mice.
Resulta indicate that family with sequence similarity 20 member A (FAM20A) is essential for amelogenesis, but is dispensable for dentinogenesis.
Title: FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis.
Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro.
Title: A secretory kinase complex regulates extracellular protein phosphorylation.
Fam20a null mice develop amelogenesis imperfecta and ectopic mineralization of muscular arteries and the gene is highly expressed in ameloblasts and the parathyroid gland
Title: Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.
possible link between Fam20a mutation and growth disorder
Title: A transgenic mouse line with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and its upstream region shows growth disorder.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables phosphotransferase activity, alcohol group as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enamel mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
NOT involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in tooth eruption	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
colocalizes_with Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pseudokinase FAM20A

Names: family with sequence similarity 20, member A; ortholog of human family with sequence similarity 20, member A FAM20A; protein FAM20A

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_153782.2 → NP_722477.1 pseudokinase FAM20A precursor

See identical proteins and their annotated locations for NP_722477.1

Status: VALIDATED

Source sequence(s)

AL691448, AL732387

Consensus CDS

CCDS25584.1

UniProtKB/Swiss-Prot

Q8CID3

Related

ENSMUSP00000020938.8, ENSMUST00000020938.8

Conserved Domains (1) summary

cl05973
Location:306 → 522

FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins

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_000077.7 Reference GRCm39 C57BL/6J

Range

109563752..109613989 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532724.5 → XP_006532787.1 pseudokinase FAM20A isoform X1

Conserved Domains (1) summary

cl05973
Location:177 → 393

FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins