TBC1D23 - TBC1 domain family member 23 Gene

Homo sapiens

Also known as PCH11; NS4ATP1

Gene ID: 55773 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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