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FLASH GENE

Symbol

FBXO38

contributors: mct - updated : 14-12-2018

HGNC name	F-box protein 38
HGNC id	28844

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DSMACW distal spinal muscular atrophy with calf weakness
Location	5q32      Physical location : 147.763.545 - 147.822.399
Synonym name	modulator of KLF7 activity
Synonym symbol(s)	MOKA, Fbx38, SP329

DNA

TYPE	functioning gene
STRUCTURE	58.92 kb     23 Exon(s)

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_030793 22 - 4222 NP_110420 140 1113 - 2004 14729953 FBXO38 Ia FBXO38 Ib - - 4418 - 1188 - 2004 14729953 NM_001271723 21 - 3712 NP_001258652 - 943 - 2004 14729953

EXPRESSION

Type

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 Nervous brain         Homo sapiens   spinal cord         Homo sapiens Reproductive male system testis       Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developping brain (

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal F-box domain
	three nuclear export signals (NES)
	three C-terminal nuclear localization signals
	a highly acidic stretch of about 100 amino acids
	an asp-rich stretch
	a ser-rich stretch

HOMOLOGY

Homologene

FAMILY

F-box family of proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	preferentially accumulated in the nucleus

basic FUNCTION

FBXO38 and KLF7 interact functionally to regulate gene expression during cell differentiation and identify the cell cycle regulator CDKN1A) as one of the targeted genes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	coactivator of the transcription factor Krüppel-like factor 7 (KLF7), which regulates genes required for neuronal axon outgrowth and repair
	FBXO38 interacts with and ubiquitylates FGL1 to negatively regulate its stability and to mediate cancer immune response

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DSMACW

Susceptibility

to severe chronic periodontitis

Variant & Polymorphism SNP	rs10043775 associated to severe chronic periodontitis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS