1. Gene
  2. TBC1D23 - TBC1 domain family member 23 Gene

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

TBC1D23 Protein Structure

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (48 - 245)

Rhodanese

Rhodanese: Rhodanese-like domain (332 - 439)

  • 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

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

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