TBC1D25 - TBC1 domain family member 25 Gene

Homo sapiens

Also known as MG81; OATL1

Gene ID: 4943 | Gene type: protein coding

About TBC1D25

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,539,714-48,562,609 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 45 paralogues. Ubiquitous expression in testis (RPKM 5.6), brain (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]

TBC1D25 Products(5)

mRNA	Protein	Name
NM_001348262.2	NP_001335191.1	TBC1 domain family member 25 isoform a
NM_001348263.2	NP_001335192.1	TBC1 domain family member 25 isoform b
NM_001348264.2	NP_001335193.1	TBC1 domain family member 25 isoform d
NM_001348265.2	NP_001335194.1	TBC1 domain family member 25 isoform d
NM_002536.4	NP_002527.1	TBC1 domain family member 25 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	21383079	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21383079	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of autophagosome maturation	IMP IMP: Inferred from mutant phenotype	21383079	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in autophagosome	IDA IDA: Inferred from direct assay	21383079	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

TBC1D25 Protein Structure

RabGAP-TBC

0
200
400
600
688 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 25

5SN3 snoRNA

Related Diseases

Diseases

Alias

Oligospermia

Non-Syndromic X-Linked Intellectual Disability 9

Mrx44	Mrx9
X-Linked Mental Retardation 44

Spindle Cell Synovial Sarcoma

Synovial Sarcoma With Spindle Cell Components	Synovial Sarcoma, Monophasic Fibrous
Synovial Sarcoma, Spindle Cell

Aland Island Eye Disease

AIED	Forsius-Eriksson Type Ocular Albinism
Forsius-Eriksson Syndrome	Autoimmune Inner Ear Disease
Forsius Eriksson Type Ocular Albinism	Aland Islands Eye Disease
Aaland Island Eye Disease	Ocular Albinism, Type Ii

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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-RS14239	TBC1D25 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TBC1D25	MGD	MGI:2444862
Bos taurus	TBC1D25	VGNC	VGNC:35639
Felis catus	TBC1D25	VGNC	VGNC:68610
Canis familiaris	TBC1D25	VGNC	VGNC:47144
Macaca mulatta	TBC1D25	VGNC	VGNC:78265
Rattus norvegicus	TBC1D25	RGD	RGD:1559711

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