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

Gene ID: 105732, updated on 2-Nov-2024

Summary

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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

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See Fam83h in Genome Data Viewer
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_000081.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 166 Neighboring gene mitogen-activated protein kinase 15 Neighboring gene IQ motif and ankyrin repeat containing 1 Neighboring gene scribbled planar cell polarity Neighboring gene microRNA 6952 Neighboring gene STARR-seq mESC enhancer starr_39038 Neighboring gene poly-U binding splicing factor 60

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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

  2. 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

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    75872941..75886185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q148V8.1 GenPept UniProtKB/Swiss-Prot:Q148V8

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