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TBC1D23 - TBC1 domain family member 23 Gene

Also Known as PCH11; NS4ATP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55773

About TBC1D23

Cytogenetic location: 3q12.1-q12.2 Genomic coordinates (GRCh38): 3:100,260,992-100,325,238 (from NCBI)

This gene has 9 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 11.3), placenta (RPKM 11.0) and 25 other tissues.

Summary

Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. Colocalizes with WASH complex. Implicated in pontocerebellar hypoplasia. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D23 Products (2)

mRNA	Protein	Name
NM_001199198.3	NP_001186127.1	TBC1 domain family member 23 isoform 1
NM_018309.5	NP_060779.2	TBC1 domain family member 23 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	28823706	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	29084197	GOA
involved in vesicle tethering to Golgi	IDA IDA: Inferred from direct assay	29426865	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of WASH complex	IDA IDA: Inferred from direct assay	29084197	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	29426865	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	28823706	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

TBC1D23 Protein Structure

RabGAP-TBC

Rhodanese

0
200
400
600
699 a.a.

Protein Preferred Names	Protein Names
TBC1 domain family member 23	HCV non-structural protein 4A-transactivated protein 1

TBC1D23 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBC1D23	Q9NUY8	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	25416956
Intra	TBC1D23	Q9NUY8	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
Intra	TBC1D23	Q9NUY8	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	TBC1D23	Q9NUY8	KRTAP10-9	Homo sapiens	P60411	Y2H Array	25416956
Intra	TBC1D23	Q9NUY8	CAGE1	Homo sapiens	Q8TC20	Validated Y2H	25416956
Intra	TBC1D23	Q9NUY8	CAGE1	Homo sapiens	Q8TC20	Y2H Prey Pooling	25416956
Intra	TBC1D23	Q9NUY8	SSBP3	Homo sapiens	Q9BWW4	Validated Y2H	25416956
Intra	TBC1D23	Q9NUY8	SSBP3	Homo sapiens	Q9BWW4	Y2H Prey Pooling	25416956
Intra	TBC1D23	Q9NUY8	WDR62	Homo sapiens	O43379	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 11	PCH11 Pontocerebellar Hypoplasia Type 11 Pontocerebellar Hypoplasia Due To Tbc1d23 Pontocerebellar Hypoplasia 11 Doid:0112324
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Non-Syndromic Pontocerebellar Hypoplasia	Pontoneocerebellar Hypoplasia Pch Pontoneocerebellar Atrophy
Warburg Micro Syndrome 4	WARBM4 Micro Syndrome 4
Pontocerebellar Hypoplasia, Type 4	Pontocerebellar Hypoplasia Type 4 PCH4 Olivopontocerebellar Hypoplasia Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia Pontocerebellar Hypoplasia 4 Young Mckeever Squier Syndrome Hypoplasia, Pontocerebellar, Type 4
Pontocerebellar Hypoplasia, Type 3	Pontocerebellar Hypoplasia Type 3 Cerebellar Atrophy With Progressive Microcephaly PCH3 Clam Pch With Optic Atrophy Pontocerebellar Hypoplasia 3 Hypoplasia, Pontocerebellar, Type 3
Pontocerebellar Hypoplasia, Type 1d	PCH1D Pontocerebellar Hypoplasia Type 1d Pontocerebellar Hypoplasia 1d Doid:0112323 Hypoplasia, Pontocerebellar, Type 1d
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Door Syndrome Doors Syndrome Digitorenocerebral Syndrome Autosomal Recessive Deafness-Onychodystrophy Syndrome Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome DOORS Drc Syndrome Eronen Syndrome Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Brachydactyly Due To Absence Of Distal Phalanges Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14237	TBC1D23 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TBC1D23	VGNC	VGNC:65983
Mus musculus	TBC1D23	MGD	MGI:1914831
Macaca mulatta	TBC1D23	VGNC	VGNC:78213
Rattus norvegicus	TBC1D23	RGD	RGD:1307925
Bos taurus	TBC1D23	VGNC	VGNC:35638
Canis familiaris	TBC1D23	VGNC	VGNC:47143
Others	TBC1D23	NCBI