Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25809
Gene name	TTL family tubulin polyglutamylase complex subunit L1
Gene symbol	TTLL1
Synonyms (NCBI Gene)	C22orf7HS323M22BTPGS3
Chromosome	22
Chromosome location	22q13.2

137

Show/Hide all (137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017600	hsa-miR-335-5p	Microarray	18185580
MIRT489264	hsa-miR-6087	PAR-CLIP	20371350
MIRT489263	hsa-miR-658	PAR-CLIP	20371350
MIRT489262	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489261	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT489260	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT489259	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT489257	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT489258	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT489256	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT489255	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT489254	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT489253	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT489252	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT489251	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT489250	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT489249	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT489248	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT489247	hsa-miR-3689c	PAR-CLIP	20371350
MIRT489246	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT489245	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT489244	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT489243	hsa-miR-3122	PAR-CLIP	20371350
MIRT489242	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT489241	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT489240	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT489238	hsa-miR-4459	PAR-CLIP	20371350
MIRT489268	hsa-miR-3622a-3p	PAR-CLIP	23592263
MIRT489267	hsa-miR-3622b-3p	PAR-CLIP	23592263
MIRT489266	hsa-miR-6765-3p	PAR-CLIP	23592263
MIRT489265	hsa-miR-544b	PAR-CLIP	23592263
MIRT489264	hsa-miR-6087	PAR-CLIP	23592263
MIRT489263	hsa-miR-658	PAR-CLIP	23592263
MIRT489262	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT489261	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT489260	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489259	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489257	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489258	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489256	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489255	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT489254	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT489253	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT489252	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT489251	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT489250	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT489249	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT489248	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT489247	hsa-miR-3689c	PAR-CLIP	23592263
MIRT489246	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT489245	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT489244	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT489243	hsa-miR-3122	PAR-CLIP	23592263
MIRT489242	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT489241	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT489240	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT489238	hsa-miR-4459	PAR-CLIP	23592263
MIRT458103	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT458102	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT458101	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT458100	hsa-miR-1825	PAR-CLIP	23592263
MIRT458099	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458098	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT458097	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT458096	hsa-miR-7703	PAR-CLIP	23592263
MIRT458095	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458094	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT458093	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT489264	hsa-miR-6087	PAR-CLIP	20371350
MIRT489263	hsa-miR-658	PAR-CLIP	20371350
MIRT489262	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489261	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT489260	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT489259	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT489257	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT489258	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT489256	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT489255	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT489254	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT489253	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT489252	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT489251	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT489250	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT489249	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT489248	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT489247	hsa-miR-3689c	PAR-CLIP	20371350
MIRT489246	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT489245	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT489244	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT489243	hsa-miR-3122	PAR-CLIP	20371350
MIRT489242	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT489241	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT489240	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT489238	hsa-miR-4459	PAR-CLIP	20371350
MIRT489268	hsa-miR-3622a-3p	PAR-CLIP	23592263
MIRT489267	hsa-miR-3622b-3p	PAR-CLIP	23592263
MIRT489266	hsa-miR-6765-3p	PAR-CLIP	23592263
MIRT489265	hsa-miR-544b	PAR-CLIP	23592263
MIRT489264	hsa-miR-6087	PAR-CLIP	23592263
MIRT489263	hsa-miR-658	PAR-CLIP	23592263
MIRT489262	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT489261	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT489260	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489259	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489257	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489258	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489256	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489255	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT489254	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT489253	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT489252	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT489251	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT489250	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT489249	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT489248	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT489247	hsa-miR-3689c	PAR-CLIP	23592263
MIRT489246	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT489245	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT489244	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT489243	hsa-miR-3122	PAR-CLIP	23592263
MIRT489242	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT489241	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT489240	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT489238	hsa-miR-4459	PAR-CLIP	23592263
MIRT458103	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT458102	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT458101	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT458100	hsa-miR-1825	PAR-CLIP	23592263
MIRT458099	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458098	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT458097	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT458096	hsa-miR-7703	PAR-CLIP	23592263
MIRT458095	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458094	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT458093	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1462379	hsa-miR-154	CLIP-seq
MIRT1462380	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	34782749
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	34782749
GO:0002395	Process	Immune response in nasopharyngeal-associated lymphoid tissue	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	34782749
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0015631	Function	Tubulin binding	IBA
GO:0016874	Function	Ligase activity	IEA
GO:0018095	Process	Protein polyglutamylation	TAS	15890843
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046785	Process	Microtubule polymerization	IDA	10791892, 34782749
GO:0046872	Function	Metal ion binding	IEA
GO:0061523	Process	Cilium disassembly	IDA	34782749
GO:0070740	Function	Tubulin-glutamic acid ligase activity	IBA
GO:0070740	Function	Tubulin-glutamic acid ligase activity	IDA	34782749
GO:0070740	Function	Tubulin-glutamic acid ligase activity	IEA
GO:0070740	Function	Tubulin-glutamic acid ligase activity	TAS	15890843
GO:0106438	Function	Protein-glutamic acid ligase activity, elongating	IEA
GO:0120197	Process	Mucociliary clearance	IEA
GO:0120222	Process	Regulation of blastocyst development	IEA

MIM	HGNC	e!Ensembl
608955	1312	ENSG00000100271

O95922

Protein name

Polyglutamylase complex subunit TTLL1 (EC 6.3.2.-) (Tubulin polyglutamylase TTLL1) (Tubulin polyglutamylase complex subunit 3) (PGs3) (Tubulin--tyrosine ligase-like protein 1)

Protein function

Catalytic subunit of a polyglutamylase complex which modifies tubulin, generating side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin (PubMed:34782749). Probably involved in t

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03133	TTL	49 → 364	Tubulin-tyrosine ligase family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis. {ECO:0000269|PubMed:11054573}.

Sequence

MAGKVKWVTDIEKSVLINNFEKRGWVQVTENEDWNFYWMSVQTIRNVFSVEAGYRLSDDQ
IVNHFPNHYELTRKDLMVKNIKRYRKELEKEGSPLAEKDENGKYLYLDFVPVTYMLPADY
NLFVEEFRKSPSSTWIMKPCGKAQGKGIFLINKLSQIKKWSRDSKTSSFVSQSNKEAYVI
SLYINNPLLIGGRKFDLRLYVLVSTYRPLRCYMYKLGFCRFCTVKYTPSTSELDNMFVHL
TNVAIQKHGEDYNHIHGGKWTVSNLRLYLESTRGKEVTSKLFDEIHWIIVQSLKAVAPVM
NNDKHCFECYGYDIIIDDKLKPWLIEVNASPSLTSSTANDRILKYNLINDTLNIAVPNGE
IPDCKWNKSPPKEVLGNYEILYDEELAQGDGADRELRSRQGQSLGPRAGRSRDSGRAVLT
TWK

Sequence length

423

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30642841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30642841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	29228606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29228606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30642841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24814394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15382060, 9405300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15382060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TTLL1 (TTL family tubulin polyglutamylase complex subunit L1)