Fam83h family with sequence similarity 83, member H [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fam83hprovided by MGI
Official Full Name: family with sequence similarity 83, member Hprovided by MGI
Primary source: MGI:MGI:2145900
See related: Ensembl:ENSMUSG00000046761 AllianceGenome:MGI:2145900
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 keratin filament binding activity and protein kinase binding activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to cytoskeleton. Predicted to be located in cytoplasm. Predicted to colocalize with keratin filament. Is expressed in lower jaw and tooth. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3A. Orthologous to human FAM83H (family with sequence similarity 83 member H). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in colon adult (RPKM 22.6), small intestine adult (RPKM 16.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 35.22 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (75872941..75886185, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (76001092..76014336, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Fam83h mutation causes mandible underdevelopment via CK1alpha-mediated Wnt/beta-catenin signaling in male C57/BL6J mice.
Title: Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice.
Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.
Title: Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.
Fam83h-/- mice showed no enamel phenotype. Fam83h Tr/Tr (p.Tyr297*) mutation disturbed amelogenesis through a neomorphic mechanism and caused obvious enamel malformations.
Title: The Enamel Phenotype in Homozygous Fam83h Truncation Mice.
These findings shed new light on the association of Fam83h and fluorosis and indicated that high fluoride decreased the expression of Fam83h in morphological and cytological development. This may be one of the reasons for the occurrence of fluorosis.
Title: Immunohistochemical Localization of Fam83h During Fluorosis-induced Mouse Molar Development.
Compared with the control, the Fam83h mutation altered the expression and localization of Fam83h, CK1alpha and beta-catenin in LS8 ameloblasts, inhibited mineralization and down-regulated the expression of mineralization factors.
Title: Fam83h mutation inhibits the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway.
Findings demonstrate that over-expression of FAM83H in mice does not produce a phenotype in dentine or enamel.
Title: Effects of Fam83h overexpression on enamel and dentine formation.

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Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124839 (e-PCR)
- UniSTS:161661

Fam83h (e-PCR), detects polymorphism
- UniSTS:528078

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables keratin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables keratin filament binding	ISO Inferred from Sequence Orthology more info
enables keratin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cytoskeleton	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
colocalizes_with keratin filament	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with keratin filament	ISO Inferred from Sequence Orthology more info
colocalizes_with keratin filament	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein FAM83H

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_001168253.1 → NP_001161725.1 protein FAM83H

See identical proteins and their annotated locations for NP_001161725.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA409317, AC116487, AK030392, AK035531

Consensus CDS

CCDS27559.1

UniProtKB/Swiss-Prot

Q148V8, Q8BZF6, Q8CI79, Q8R5C2, Q8R5D0

UniProtKB/TrEMBL

A0A571BFA7

Related

ENSMUSP00000126453.2, ENSMUST00000170153.2

Conserved Domains (4) summary

PTZ00449
Location:867 → 1034

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd09188
Location:17 → 281

PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H

pfam08580
Location:665 → 990

KAR9; Yeast cortical protein KAR9

pfam12815
Location:862 → 928

CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
NM_134087.2 → NP_598848.2 protein FAM83H

See identical proteins and their annotated locations for NP_598848.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA409317, AC116487, AK030392, AK035531

Consensus CDS

CCDS27559.1

UniProtKB/Swiss-Prot

Q148V8, Q8BZF6, Q8CI79, Q8R5C2, Q8R5D0

UniProtKB/TrEMBL

A0A571BFA7

Related

ENSMUSP00000059839.6, ENSMUST00000060807.12

Conserved Domains (4) summary

PTZ00449
Location:867 → 1034

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd09188
Location:17 → 281

PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H

pfam08580
Location:665 → 990

KAR9; Yeast cortical protein KAR9

pfam12815
Location:862 → 928

CTD; Spt5 C-terminal nonapeptide repeat binding Spt4

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_000081.7 Reference GRCm39 C57BL/6J

Range

75872941..75886185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520236.5 → XP_006520299.3 protein FAM83H isoform X1

UniProtKB/TrEMBL

A0A571BFA7

Related

ENSMUSP00000158845.2, ENSMUST00000238313.2

Conserved Domains (4) summary

PTZ00449
Location:898 → 1065

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd09188
Location:48 → 312

PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H

pfam08580
Location:696 → 1021

KAR9; Yeast cortical protein KAR9

pfam12815
Location:893 → 959

CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
XM_006520237.5 → XP_006520300.1 protein FAM83H isoform X2

See identical proteins and their annotated locations for XP_006520300.1

UniProtKB/Swiss-Prot

Q148V8, Q8BZF6, Q8CI79, Q8R5C2, Q8R5D0

UniProtKB/TrEMBL

A0A571BFA7

Conserved Domains (4) summary

PTZ00449
Location:867 → 1034

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd09188
Location:17 → 281

PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H

pfam08580
Location:665 → 990

KAR9; Yeast cortical protein KAR9

pfam12815
Location:862 → 928

CTD; Spt5 C-terminal nonapeptide repeat binding Spt4