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FLASH GENE

Symbol

FAM83H

contributors: mct/npt - updated : 18-01-2023

HGNC name	family with sequence similarity 83, member H
HGNC id	24797

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AIH4 amelogenesis imperfecta 4, hypocalcification type
Location	8q24.3      Physical location : 144.806.103 - 144.815.914
Synonym name	hypothetical protein LOC286077
Synonym symbol(s)	AI3, FLJ46072

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	9.85 kb     5 Exon(s)

regulatory sequence	Promoter
	Binding site
text structure	MYC binds to the promotor of FAM83H and MYC promotes the transcription of FAM83H

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198488 5 - 5632 NP_940890 127 1179 - 2021 34657752

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tooth       Reproductive female system ovary     highly   female system uterus cervix   highly Urinary bladder       highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive ameloblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region of FAM83H interacts with CSNK1A1
	C-terminus of FAM83H played certain adaptive roles during evolution, containing key conserved regions critical to enamel formation and calcification , and interacting with keratins

HOMOLOGY

Homologene

FAMILY

FAM83 family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nuclear envelope
text	FAM83H shows preferential localization to keratin filaments around the nucleus that often extend to cell-cell junctions

basic FUNCTION	required for proper dental-enamel calcification
	FAM83H regulates likely the filamentous state of keratins
	keratin cytoskeleton organization is regulated by FAM83H-mediated recruitment of CSNK1A1 to keratins
	FAM83H regulates the organization of the keratin cytoskeleton and maintains the formation of desmosomes in ameloblastoma cells
	FAM83H recruits CSNK1A1 preferentially to the keratin cytoskeleton and alternatively to the nuclear speckles

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	CSNK1A1 mediates FAM83H-dependent reorganization of keratin filaments
	TRIM29 interacts with keratins and FAM83H to regulate keratin distribution
	FAM83H acts as a scaffold protein that recruits CSNK1A1 to the keratin cytoskeleton or to the nuclear speckles, which are storage sites for splicing factors

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AIH4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in liver cancer cells, and nuclear expression of FAM83H predicted shorter survival of HCC patients tumoral     --over   keratin filament disassembly caused by overexpression of FAM83H and aberrant localization of CSNK1A1 could contribute to the progression of colorectal cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	FAM83H expression as a poor prognostic indicator of hepatocellular carcinoma (HCC) patients
Therapy target

ANIMAL & CELL MODELS