TBCB tubulin folding cofactor B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBCBprovided by HGNC
Official Full Name: tubulin folding cofactor Bprovided by HGNC
Primary source: HGNC:HGNC:1989
See related: Ensembl:ENSG00000105254 MIM:601303; AllianceGenome:HGNC:1989
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CG22; CKAP1; CKAPI
Summary: Predicted to be involved in cell differentiation and nervous system development. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 13.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (36114967..36125941)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38660785..38671758)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36605869..36616843)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results showed that HILI suppresses microtubule polymerization and promotes cell proliferation, migration and invasion via TBCB for the first time, revealing a novel mechanism for HILI in tumorigenesis.
Title: HILI destabilizes microtubules by suppressing phosphorylation and Gigaxonin-mediated degradation of TBCB.
Data indicate a microRNA-1825/TBCB/TUBA4A pathway as a putative pathogenic cascade in both familial ALS (fALS) and both sporadic (sALS).
Title: Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.
the role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated.
Title: The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.
results support a role for MAP1 proteins in promoting efficient retrograde trafficking of HIV-1 by stimulating the formation of stable microtubules and mediating the association of HIV-1 cores with microtubules.
Title: Microtubule-associated proteins 1 (MAP1) promote human immunodeficiency virus type I (HIV-1) intracytoplasmic routing to the nucleus.
Overexpression of TBCB leads to the decreased localization of p150 to the microtubule network that might result in a functional modulation of this protein complex.
Title: Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued).
TBCB localizes at spindle and midzone microtubules during mitosis.
Title: Autoinhibition of TBCB regulates EB1-mediated microtubule dynamics.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Study demonstrates that, unlike its counterpart TBCE, TBCB only moderately destabilizes microtubules; neither TBCB abundance nor microtubule organization or densities are altered in giant axonal neuropathy mutant fibroblasts.
Title: Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
TBCB functions as a microtubule density regulator in microglia during activation, and provide an insight into understanding of mechanisms controlling microtubule reorganization during microglial transition between phenotypes.
Title: Tubulin cofactor B regulates microtubule densities during microglia transition to the reactive states.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	CKAP1 protein interacts weakly with HIV-1 CA cores in primary human macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IEA Inferred from Electronic Annotation more info
enables microtubule plus-end binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in post-chaperonin tubulin folding pathway	IEA Inferred from Electronic Annotation more info
involved_in tubulin complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tubulin-folding cofactor B

Names: cytoskeleton associated protein 1; cytoskeleton-associated protein CKAPI; tubulin-specific chaperone B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001281.3 → NP_001272.2 tubulin-folding cofactor B isoform 1

See identical proteins and their annotated locations for NP_001272.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL555345, BC005969, D49738

Consensus CDS

CCDS12488.1

UniProtKB/Swiss-Prot

O00111, O00674, O14728, Q6FGY5, Q99426

UniProtKB/TrEMBL

A0A494C0X0

Related

ENSP00000221855.3, ENST00000221855.8

Conserved Domains (2) summary

pfam01302
Location:161 → 226

CAP_GLY; CAP-Gly domain

pfam14560
Location:11 → 93

Ubiquitin_2; Ubiquitin-like domain
NM_001300971.3 → NP_001287900.1 tubulin-folding cofactor B isoform 2

See identical proteins and their annotated locations for NP_001287900.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AD001527

Consensus CDS

CCDS74344.1

UniProtKB/TrEMBL

K7EP07

Related

ENSP00000467487.1, ENST00000585746.1

Conserved Domains (2) summary

pfam01302
Location:110 → 175

CAP_GLY; CAP-Gly domain

cl00155
Location:1 → 42

UBQ; Ubiquitin-like proteins

RNA

NR_155756.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AD001527