TTLL12 - tubulin tyrosine ligase like 12 Gene

Homo sapiens

Also known as dJ526I14.2

Gene ID: 23170 | Gene type: protein coding

About TTLL12

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:43,166,622-43,187,134 (from NCBI)

This gene has 4 transcripts (splice variants), 196 orthologues and 12 paralogues. Ubiquitous expression in esophagus (RPKM 28.7), colon (RPKM 16.0) and 25 other tissues.

Summary

Enables H4K20me3 modified histone binding activity and tubulin binding activity. Involved in negative regulation of type I interferon-mediated signaling pathway and regulation of mitotic cell cycle. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TTLL12 Products(1)

mRNA	Protein	Name
NM_015140.4	NP_055955.1	tubulin--tyrosine ligase-like protein 12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables H4K20me3 modified histone binding	IDA IDA: Inferred from direct assay	23251473	GOA
NOT enables histone H4K20 trimethyltransferase activity	IDA IDA: Inferred from direct assay	23251473	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23251473	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	23251473	GOA
NOT enables tubulin-tyrosine ligase activity	IDA IDA: Inferred from direct assay	23251473	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of type I interferon-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	28011935	GOA
involved in regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	23251473	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	28011935	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

TTLL12 Protein Structure

TTL

0
100
200
300
400
500
600
644 a.a.

Protein Preferred Names

Protein Names

tubulin--tyrosine ligase-like protein 12

inactive tubulin--tyrosine ligase-like protein 12

Related Diseases

Diseases

Alias

Acute Closed-Angle Glaucoma

Acute Angle-Closure Glaucoma

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT	Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Gata1-Related X-Linked Cytopenia
X-Linked Thrombocytopenia With Beta-Thalassemia	Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

Orofaciodigital Syndrome Viii

Edwards Syndrome	Trisomy 18
Complete Trisomy 18 Syndrome	OFD8
Orofaciodigital Syndrome 8	Trisomy 18 Syndrome
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis	E3 Trisomy
Oral-Facial-Digital Syndrome Type 8	Orofaciodigital Syndrome Type 8
Ofds Viii	Oral-Facial-Digital Syndrome, Type Viii
Ofd Syndrome 8	Ofds 8
Oral Facial Digital Syndrome 8	Oral Facial Digital Syndrome Type 8
18 Trisomy	Chromosome 18 Trisomy
Trisomy 16-18	Trisomy E
Trisomy E Syndrome	Chromosome 18 Duplication
Oral-Facial-Digital Syndrome, Edwards Type	Orofaciodigital Syndrome, Edwards Type
Chromosome 18, Trisomy	Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
Trisomy 18 Chromosome	Abnormal Autosomes 18

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

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-RS15229	TTLL12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TTLL12	MGD	MGI:3039573
Canis familiaris	TTLL12	VGNC	VGNC:47975
Macaca mulatta	TTLL12	VGNC	VGNC:79757
Felis catus	TTLL12	VGNC	VGNC:66687
Bos taurus	TTLL12	VGNC	VGNC:36491
Rattus norvegicus	TTLL12	RGD	RGD:1305319

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