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FLASH GENE

Symbol

TTLL5

contributors: np/mct - updated : 12-05-2014

HGNC name	tubulin tyrosine ligase-like family, member 5
HGNC id	19963

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015072 32 - 4773 NP_055887 - 1281 localized to the cytoplasm and nucleus 2007 17116691

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 Cardiovascular heart       highly Homo sapiens Hearing/Equilibrium ear       highly Reproductive male system testis     highly Visual eye retina       Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	highly homologous core tubulin tyrosine ligase domain in its N terminus, predicted to be between AAs 62 and 407
	a C-terminal coactivator-interaction domain and three C-terminal receptor-interaction domains

HOMOLOGY

interspecies

homolog to rattus 7acomp protein

Homologene

FAMILY

tubulin-tyrosine ligase family, TTLL superfamily

CATEGORY

enzyme , motor/contractile , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microfilament
	intracellular,nucleus
text	localized to the centrioles at the base of the connecting cilium

basic FUNCTION	play an important role in the polyglutamylation of primary cilia
	key initiator of polyglutamylation in alpha-tubulin
	essential for the correct function of sperm flagella
	has no unique function for ciliary stability or beating in brain ependymal cilia
	might be responsible for the tubulin polyglutamination in the microtubule triplets of the centrioles, increasing the centriole stability
	physiological function in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones
	has polyglutamylation activity, augments the activity of p160 coactivators (NCOA1 and NCOA2) in glucocorticoid receptor-regulated gene induction and repression, and displays steroid-independent growth activity with several cell types
	participate in a unique, tissue-selective TTLL-mediated pathway for alpha-tubulin polyglutamylation that is required for sperm maturation and motility and may be relevant for male fertility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associates with coactivators (NCOA2, NR3C1) and is selective for a subset of the steroid/nuclear receptors including glucocorticoid receptors

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CORD19

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS