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FLASH GENE

Symbol

IFT81

contributors: mct - updated : 29-08-2019

HGNC name	intraflagellar transport 81 homolog (Chlamydomonas)
HGNC id	14313

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	94.46 kb     21 Exon(s)

regulatory sequence

Binding site   transcription factor

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	using alternative initiation methionine, met1 or met570

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014055 19 splicing 3160 NP_054774 79 676 abundantly in testis 2013 23990561 variant 1, CDV1R appears to be involved in development of the testis and in the spermatogenesis NM_031473 12 splicing 2324 NP_113661 50 431 - 2013 23990561 variant 2, CDV1 may be involved in cardiac hypertrophy caused by carnitine deficiency NM_001143779 19 - 2742 NP_001137251 - 676 - 2013 23990561 NM_001347946 - - 1893 NP_001334875 - 431 - 2013 23990561 NM_001347947 - - 2566 NP_001334876 - 366 - 2013 23990561 NM_001347948 - - 2984 NP_001334877 - 366 - 2013 23990561

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 Cardiovascular heart         Digestive liver       moderately   pancreas exocrine       moderately Endocrine pancreas         Nervous brain       lowly Reproductive female system ovary     moderately   female system placenta     lowly   male system prostate     lowly   male system testis     predominantly Respiratory lung       lowly Urinary kidney       moderately

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a calponin-homology domain within the IFT81 N-terminus and the highly basic N-terminus of IFT74 form a module for IFT of tubulin (
	a putative signal peptide
	four coiled-coil domains

HOMOLOGY

interspecies	homolog to murine Ift81 (92.9pc)
	homolog to rattus Cdv1 (92.7pc)

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	expression level is increased with testis development

basic FUNCTION	may play an important role in sperm maturation
	tubulin binding by IFT81 was required for ciliogenesis
	two core IFT proteins IFT74 and IFT81 form a tubulin-binding module
	together, the IFT81 and IFT74 N-termini are crucial for flagellar assembly, and are likely to function as the main module for IFT of tubulin
	importance of IFT81 in the skeleton, and role in the anterograde transport complex
	involved in the bidirectional transport of ciliary proteins
	plays an essential role during spermatogenesis by modulating the assembly and elongation of the sperm flagella

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , reproduction/sex

text	spermatogenesis
	cell differentiation

PATHWAY

metabolism

signaling

a component

core component of the IFT-B complex

INTERACTION

DNA

RNA

small molecule

protein	IFT81 and IFT74/72 directly interact to form a higher order oligomer consistent with a tetrameric complex
	IFT52 binds directly to four other IFT-B subunits, IFT81/74/27/HSPB11
	IFT74 and IFT81 interact directly through central and C-terminal coiled-coil domains, and the N termini of these proteins form a tubulin-binding module important for ciliogenesis
	together, the IFT81 and IFT74 N-termini are crucial for flagellar assembly, and are likely to function as the main module for IFT of tubulin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRTD19

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in nephronophthisis and polydactyly

Susceptibility

Variant & Polymorphism

Candidate gene	candidate gene for nonsyndromic retinal dystrophy
Marker
Therapy target

ANIMAL & CELL MODELS