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FLASH GENE

Symbol

TRAF3IP1

contributors: mct - updated : 30-08-2017

HGNC name	TNF receptor-associated factor 3 interacting protein 1
HGNC id	17861

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q37.3      Physical location : 239.229.184 - 239.309.539
Synonym name	microtubule-interacting protein that associates with TRAF3
	interleukin 13 receptor alpha 1-binding protein 1
	TRAF3-interacting protein 1
Synonym symbol(s)	DKFZp434F124, MIP-T3, MIPT3,IFT54, SLSN9

DNA

TYPE	functioning gene
STRUCTURE	80.36 kb     17 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_015650 17 - 4183 NP_056465 78 691 - 2001 10791955 NM_001139490 15 - 3985 NP_001132962 - 625 - 2001 10791955

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         Urinary kidney         Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Urinary epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eyes, lens, eye anterior segment, optic nerve, retina foveal and macular, RPE and choroid

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal calponin homology (CH) domain of IFT54 interacts with tubulins/MTs and has been proposed to transport tubulin during ciliogenesis
	C-terminal coiled-coil domain, required for ubiquitination and proteasome-mediated degradation of TRAF3IP1 protein , that binds IFT20
	whereas the C-terminal coiled-coil (CC) domain

HOMOLOGY

interspecies

ortholog to C-Elegans DYF-11

Homologene

FAMILY

TRAF3IP1 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	localizes to cilia in the MDCK renal epithelial cells

basic FUNCTION	required for sensory cilia formation
	potential role in regulation of cytoskeleton dynamics in cells
	TAF3IP1 function is highly conserved in ciliogenesis and is important for proper regulation of a number of essential developmental and cellular pathways
	unexpected role of TRAF3IP1 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	novel conserved component of the IFT complex
	intraflagellar transport proteins IFT172, IFT80, IFT57, TRAF3IP1, CLUAP1, and IFT20 form a stable tubulin-binding IFT-B2 complex
	subunit of the IFT-B complex required for ciliogenesis
	component of the IFT-B complex and is also associated with cytoplasmic microtubules (MTs)

INTERACTION

DNA

RNA

small molecule

protein	inhibitor of IL13 signaling
	DISC1
	complete loss of IFT54 or the CC domain destabilizes IFT20

cell & other

interaction with both actin filaments and microtubule suggesting that it may play an important role in regulation of cytoskeleton dynamics in cells

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Traf3ip1 mutant mouse cells are unable to form cilia