Format

Send to:

Choose Destination

TUBB4A tubulin beta 4A class IVa [ Homo sapiens (human) ]

Gene ID: 10382, updated on 5-Sep-2021

Summary

Official Symbol
TUBB4Aprovided by HGNC
Official Full Name
tubulin beta 4A class IVaprovided by HGNC
Primary source
HGNC:HGNC:20774
See related
Ensembl:ENSG00000104833 MIM:602662
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYT4; TUBB4; beta-5
Summary
This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
Expression
Biased expression in brain (RPKM 224.5), adrenal (RPKM 54.5) and 1 other tissue See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TUBB4A in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6494319..6502848, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6494330..6502859, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 41 Neighboring gene solute carrier family 25 member 23 Neighboring gene DENN domain containing 1C Neighboring gene crumbs cell polarity complex component 3 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1358 Neighboring gene TNF superfamily member 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal dominant torsion dystonia 4
MedGen: C1851943 OMIM: 128101 GeneReviews: Not available
Compare labs
Leukodystrophy, hypomyelinating, 6
MedGen: C2676244 OMIM: 612438 GeneReviews: TUBB4A-Related Leukodystrophy
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2014-11-19)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2014-11-19)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
Pr55(Gag) gag Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
Rev rev HIV-1 Rev interacting protein, tubulin beta 4 (TUBB4A), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
rev Rev acts to depolymerize microtubules that are formed by tubulin, an effect that is observed during HIV-1 infection PubMed
Tat tat HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type PubMed
tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
tat HIV-1 Tat (specifically, amino acids 38-72), enhances tubulin polymerization and triggers the mitochondrial pathway to induce T cell apoptosis as shown in vitro by the release of cytochrome c from isolated mitochondria PubMed
tat HIV-1 Tat (amino acids 36-39) binds tubulin alpha/beta dimers and polymerized microtubules leading to the alteration of microtubule dynamics and activation of a mitochondria-dependent apoptotic pathway that is facilitated by the Bcl-2 relative Bim PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in internode region of axon IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in myelin sheath IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
tubulin beta-4A chain
Names
dystonia 4, torsion (autosomal dominant)
tubulin beta-4 chain
tubulin, beta 4
tubulin, beta, 5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_033896.1 RefSeqGene

    Range
    5001..13530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289123.2NP_001276052.1  tubulin beta-4A chain isoform 1

    See identical proteins and their annotated locations for NP_001276052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC010503, BC013683, DC303150
    UniProtKB/Swiss-Prot
    P04350
    Conserved Domains (2) summary
    PLN00220
    Location:52478
    PLN00220; tubulin beta chain; Provisional
    cd02187
    Location:53477
    beta_tubulin; The beta-tubulin family
  2. NM_001289127.2NP_001276056.1  tubulin beta-4A chain isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC010503, AK075307, BC013683, DC354036
    UniProtKB/Swiss-Prot
    P04350
    Conserved Domains (2) summary
    PLN00220
    Location:46472
    PLN00220; tubulin beta chain; Provisional
    cd02187
    Location:47471
    beta_tubulin; The beta-tubulin family
  3. NM_001289129.2NP_001276058.1  tubulin beta-4A chain isoform 3

    See identical proteins and their annotated locations for NP_001276058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform 3.
    Source sequence(s)
    AC010503, BC013683, DC353527
    Consensus CDS
    CCDS12168.1
    UniProtKB/Swiss-Prot
    P04350
    Conserved Domains (1) summary
    PLN00220
    Location:1427
    PLN00220; tubulin beta chain; Provisional
  4. NM_001289130.2NP_001276059.1  tubulin beta-4A chain isoform 4

    See identical proteins and their annotated locations for NP_001276059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 4.
    Source sequence(s)
    BC013683, DA265791
    UniProtKB/Swiss-Prot
    P04350
    Conserved Domains (1) summary
    PLN00220
    Location:1355
    PLN00220; tubulin beta chain; Provisional
  5. NM_001289131.2NP_001276060.1  tubulin beta-4A chain isoform 4

    See identical proteins and their annotated locations for NP_001276060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 4.
    Source sequence(s)
    BC013683, DA302559, DC314277
    UniProtKB/Swiss-Prot
    P04350
    Conserved Domains (1) summary
    PLN00220
    Location:1355
    PLN00220; tubulin beta chain; Provisional
  6. NM_006087.4NP_006078.2  tubulin beta-4A chain isoform 3

    See identical proteins and their annotated locations for NP_006078.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform 3.
    Source sequence(s)
    BC013683
    Consensus CDS
    CCDS12168.1
    UniProtKB/Swiss-Prot
    P04350
    Related
    ENSP00000264071.1, ENST00000264071.7
    Conserved Domains (1) summary
    PLN00220
    Location:1427
    PLN00220; tubulin beta chain; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    6494319..6502848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center