TBCB - tubulin folding cofactor B Gene

Also Known as CG22; CKAP1; CKAPI

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1155

About TBCB

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,114,967-36,125,941 (from NCBI)

This gene has 15 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 13.9) and 25 other tissues.

Summary

Predicted to be involved in cell differentiation and nervous system development. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TBCB Products (2)

mRNA Protein Name
NM_001281.3 NP_001272.2 tubulin-folding cofactor B isoform 1
NM_001300971.3 NP_001287900.1 tubulin-folding cofactor B isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16303566 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
22777741 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

TBCB Protein Structure

Ubiquitin_2

Ubiquitin_2: Ubiquitin-like domain (10 - 92)

CAP_GLY

CAP_GLY: CAP-Gly domain (161 - 228)

  • 0
  • 100
  • 200
  • 244 a.a.
Protein Preferred Names Protein Names

tubulin-folding cofactor B

  • cytoskeleton associated protein 1

TBCB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TBCB Q99426 USP7 Homo sapiens Q93009 16713569
Intra
TBCB Q99426 TUBA4A Homo sapiens P68366 33961781
Intra
TBCB Q99426 TUBA4A Homo sapiens P68366 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TBCB Proteins

Cat. No. Product Name Accession Purity
HY-P77331 CKAP1/TBCB Protein, Human (His) Q99426 (M1-I244) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Kenny-Caffey Syndrome
  • Kenny Syndrome

Hypoparathyroidism-Retardation-Dysmorphism Syndrome
  • Sanjad-Sakati Syndrome

  • Hrd Syndrome

  • HRDS

  • Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

  • Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

  • Richardson-Kirk Syndrome

  • Sss

  • Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

  • Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

  • Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

  • Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

  • Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Neuronopathy, Distal Hereditary Motor, Type Viii
  • Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

  • HMN8

  • Dhmn8

  • Neuropathy, Distal Hereditary Motor, Type Viii

  • Distal Hereditary Motor Neuronopathy Type 8

  • Autosomal Dominant Benign Distal Spinal Muscular Atrophy

  • Congenital Benign Spinal Muscular Atrophy With Contractures

  • Congenital Nonprogressive Spinal Muscular Atrophy

  • Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

  • Spinal Muscular Atrophy, Congenital Benign, With Contractures

  • Distal Hereditary Motor Neuropathy Type Viii

  • Neuronopathy, Distal Hereditary Motor, 8

  • Distal Spinal Muscular Atrophy, Congenital Non-Progressive

  • Spinal Muscular Atrophy Congenital Benign With Contractures

Retinitis Pigmentosa 2
  • RP2

  • X-Linked Retinitis Pigmentosa 2

  • Xlrp2

  • Xlrp-2

  • Retinitis Pigmentosa-2

  • Retinitis Pigmentosa, Type 2

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
Rattus norvegicus TBCB RGD RGD:1309965
Canis familiaris TBCB VGNC VGNC:53996
Mus musculus TBCB MGD MGI:1913661
Macaca mulatta TBCB VGNC VGNC:97835
Bos taurus TBCB VGNC VGNC:35649
Felis catus TBCB VGNC VGNC:97655
Others TBCB NCBI