Fam83h family with sequence similarity 83, member H [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Fam83hprovided by RGD
Official Full Name: family with sequence similarity 83, member Hprovided by RGD
Primary source: RGD:1305866
See related: EnsemblRapid:ENSRNOG00000030264 AllianceGenome:RGD:1305866
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1305866
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 colocalize with keratin filament. 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, Dec 2024]
Expression: Biased expression in Kidney (RPKM 45.6), Lung (RPKM 41.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 7q34

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (109597129..109605317, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (107716431..107724619, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (117062748..117070936, complement)

Chromosome 7 - NC_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
Title: Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.

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General gene information

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Markers

RH124839 (e-PCR)
- UniSTS:161661

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

RH127852 (e-PCR)
- UniSTS:211162

Gene Ontology Provided by RGD

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 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 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 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 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 signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	ISO Inferred from Sequence Orthology 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_001130565.1 → NP_001124037.1 protein FAM83H

See identical proteins and their annotated locations for NP_001124037.1

Status: PROVISIONAL

Source sequence(s)

CH473950

UniProtKB/TrEMBL

A0A0G2K8J4, A6HS48, D3ZRK0

Related

ENSRNOP00000044153.3, ENSRNOT00000048446.5

Conserved Domains (2) summary

cd09188
Location:17 → 281

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

pfam13091
Location:141 → 274

PLDc_2; PLD-like domain