TBCC - tubulin folding cofactor C Gene

Also Known as CFC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6903

About TBCC

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,744,498-42,746,103 (from NCBI)

This gene has 1 transcript (splice variant) and 166 orthologues.

Summary

Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

TBCC Products (1)

mRNA Protein Name
NM_003192.3 NP_003183.2 tubulin-specific chaperone C
Molecular Function GO Annotation Evidence References Source
enables GTPase activity IDA
IDA: Inferred from direct assay
11847227 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence References Source
involved in post-chaperonin tubulin folding pathway IDA
IDA: Inferred from direct assay
11847227 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12417528 GOA
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
12417528 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

TBCC Protein Structure

TBCC

TBCC: Tubulin binding cofactor C (204 - 321)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
Protein Preferred Names Protein Names

tubulin-specific chaperone C

TBCC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TBCC Q15814 FGFR3 Homo sapiens P22607 32814053
Intra
TBCC Q15814 FGFR3 Homo sapiens P22607 32814053
Intra
TBCC Q15814 FGFR3 Homo sapiens P22607 32814053
Intra
TBCC Q15814 GSN Homo sapiens P06396 32814053
Intra
TBCC Q15814 GSN Homo sapiens P06396 32814053
Intra
TBCC Q15814 GSN Homo sapiens P06396 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

TBCC Antibodies

Cat. No. Product Name Application Reactivity
HY-P84602 TBCC Antibody (YA4299) IHC-P, ICC/IF, ELISA Human
HY-P84602A TBCC Antibody (YA4299)(PBS only) IHC-P, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Retinitis Pigmentosa 2
  • RP2

  • X-Linked Retinitis Pigmentosa 2

  • Xlrp2

  • Xlrp-2

  • Retinitis Pigmentosa-2

  • Retinitis Pigmentosa, Type 2

Quadriplegia
  • Tetraplegia

  • Tetraplegias

Kenny-Caffey Syndrome
  • Kenny Syndrome

Leukodystrophy, Hypomyelinating, 6
  • Habc

  • Hypomyelinating Leukodystrophy 6

  • HLD6

  • H-Abc

  • Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

  • Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

  • Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

  • HLD

  • Leukodystrophy, Hypomyelinating, Type 6

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 3

  • Saldino-Noonan Syndrome

  • SRTD3

  • Atd3

  • Srps1

  • Srps3

  • Verma-Naumoff Syndrome

  • Srps2b

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

  • Short Rib-Polydactyly Syndrome, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type Iii

  • Short Rib-Polydactyly Syndrome, Type Iib

  • Short Rib-Polydactyly Syndrome Type 3

  • Polydactyly With Neonatal Chondrodystrophy Type Iii

  • Short Rib-Polydactyly Syndrome Type Iii

  • Short Rib-Polydactyly Syndrome Type 1

  • Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

  • Majewski Syndrome

  • Short Rib-Polydactyly Syndrome, Type Iii

  • Type I Short Rib Polydactyly Syndrome

  • Srps Type 3

  • Short Rib Polydactyly Syndrome Verma Naumoff Type

  • Verma Naumoff Syndrome

  • Polydactyly With Neonatal Chondrodystrophy Type 1

  • Srps Type 1

  • Short Rib-Polydactyly Syndrome Saldino-Noonan Type

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 3

  • Polydactyly With Neonatal Chondrodystrophy Type I

  • Short Rib-Polydactyly Syndrome Type I

  • Short Rib-Polydactyly Syndrome Type Iib

  • Srps Type Iib

  • Srps Type Iii

Short-Rib Thoracic Dysplasia 12
  • Beemer-Langer Syndrome

  • Type Iv Short Rib Polydactyly Syndrome

  • Short Rib-Polydactyly Syndrome Type 4

  • Short Rib-Polydactyly Syndrome, Beemer Type

  • SRTD12

  • Short Rib-Polydactyly Syndrome, Type Iv

  • Srps4

  • Srps Iv

  • Short Rib Syndrome, Beemer Type

  • Beemer Langer Syndrome

  • Srps Type 4

  • Short Rib Polydactyly Syndrome Beemer-Langer Type

  • Short Rib-Polydactyly Syndrome Beemer Type

  • Short Rib-Polydactyly Syndrome Type Iv

  • Short Rib-Polydactyly Syndrome, Beemer-Langer Type

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Bos taurus TBCC VGNC VGNC:35650
Macaca mulatta TBCC VGNC VGNC:78105
Mus musculus TBCC MGD MGI:1919976
Felis catus TBCC VGNC VGNC:65993
Canis familiaris TBCC VGNC VGNC:47154
Rattus norvegicus TBCC RGD RGD:1306756
Others TBCC NCBI