TTLL1 - TTL family tubulin polyglutamylase complex subunit L1 Gene

Homo sapiens

Also known as TPGS3; C22orf7; HS323M22B

Gene ID: 25809 | Gene type: protein coding

About TTLL1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:43,039,516-43,089,391 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues and 12 paralogues. Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 other tissues.

Summary

Predicted to enable tubulin binding activity and tubulin-glutamic acid Ligase activity. Predicted to be involved in microtubule Cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and regulation of blastocyst development. Predicted to be located in cytoplasm; extracellular region; and microtubule Cytoskeleton. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]

TTLL1 Products(1)

mRNA	Protein	Name
NM_012263.5	NP_036395.1	polyglutamylase complex subunit TTLL1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables tubulin-glutamic acid ligase activity	IDA IDA: Inferred from direct assay	34782749	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in microtubule cytoskeleton organization	IDA IDA: Inferred from direct assay	34782749	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in microtubule	IDA IDA: Inferred from direct assay	34782749	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTLL1 Protein Structure

TTL

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

polyglutamylase complex subunit TTLL1

PGs3

Related Diseases

Diseases

Alias

Cough Variant Asthma

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15228	TTLL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TTLL1	VGNC	VGNC:66685
Mus musculus	TTLL1	MGD	MGI:2443047
Bos taurus	TTLL1	VGNC	VGNC:36489
Rattus norvegicus	TTLL1	RGD	RGD:1309124
Macaca mulatta	TTLL1	VGNC	VGNC:78903
Canis familiaris	TTLL1	VGNC	VGNC:47973

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