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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

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001168253.1NP_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:8671034
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cd09188
      Location:17281
      PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
      pfam08580
      Location:665990
      KAR9; Yeast cortical protein KAR9
      pfam12815
      Location:862928
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
    2. NM_134087.2NP_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:8671034
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cd09188
      Location:17281
      PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
      pfam08580
      Location:665990
      KAR9; Yeast cortical protein KAR9
      pfam12815
      Location:862928
      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_006520236.5XP_006520299.3  protein FAM83H isoform X1

      UniProtKB/TrEMBL
      A0A571BFA7
      Related
      ENSMUSP00000158845.2, ENSMUST00000238313.2
      Conserved Domains (4) summary
      PTZ00449
      Location:8981065
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cd09188
      Location:48312
      PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
      pfam08580
      Location:6961021
      KAR9; Yeast cortical protein KAR9
      pfam12815
      Location:893959
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
    2. XM_006520237.5XP_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:8671034
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cd09188
      Location:17281
      PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
      pfam08580
      Location:665990
      KAR9; Yeast cortical protein KAR9
      pfam12815
      Location:862928
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4