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TUBA1A tubulin alpha 1a [ Homo sapiens (human) ]

Gene ID: 7846, updated on 5-Jan-2020

Summary

Official Symbol
TUBA1Aprovided by HGNC
Official Full Name
tubulin alpha 1aprovided by HGNC
Primary source
HGNC:HGNC:20766
See related
Ensembl:ENSG00000167552 MIM:602529
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
LIS3; TUBA3; B-ALPHA-1
Summary
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in brain (RPKM 459.5), endometrium (RPKM 176.0) and 22 other tissues See more
Orthologs

Genomic context

See TUBA1A in Genome Data Viewer
Location:
12q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49184795..49189324, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49578578..49583107, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3992 Neighboring gene uncharacterized LOC105369760 Neighboring gene tubulin alpha 1b Neighboring gene tubulin alpha 1c Neighboring gene uncharacterized LOC101927267 Neighboring gene peripherin

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
Lissencephaly 3
MedGen: C1969029 OMIM: 611603 GeneReviews: Tubulinopathies Overview
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2016-04-14)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2016-04-14)

ClinGen Genome Curation Page

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of tubulin, alpha 1a (TUBA1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify subunit alpha 1a of tubulin (TUBA1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
env The binding of HIV-1 gp120 to CD4+-permissive cells increases the level of acetylated alpha-tubulin in a CD4-dependent manner; overexpression of Histone Deacetylase 6 (HDAC6) inhibits the acetylation of alpha-tubulin and prevents HIV-1-cell fusion PubMed
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
Envelope transmembrane glycoprotein gp41 env Expression of HIV-1 gp41 cytoplasmic domain reduces acetylated tubulin alpha and interferes with virus-cell fusion PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify subunit alpha 1a of tubulin (TUBA1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify subunit alpha 1a of tubulin (TUBA1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify subunit alpha 1a of tubulin (TUBA1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
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 alpha 1a (TUBA1A), 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 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 causes a dramatic decrease in alpha-tubulin staining, which indicates disruption of the cytoskeleton organization in human intestinal epithelial cells 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
integrase gag-pol Co-immunoprecipitation shows interaction of HIV-1 IN with alpha-tubulin 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

Clone Names

  • FLJ25113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell division TAS
Traceable Author Statement
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cytoskeleton-dependent intracellular transport TAS
Traceable Author Statement
more info
PubMed 
microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based process TAS
Traceable Author Statement
more info
PubMed 
mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic microtubule IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
microtubule TAS
Traceable Author Statement
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tubulin alpha-1A chain
Names
hum-a-tub1
hum-a-tub2
tubulin B-alpha-1
tubulin alpha-3 chain
tubulin, alpha, brain-specific

NCBI Reference Sequences (RefSeq)

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_008966.1 RefSeqGene

    Range
    4999..9284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270399.1NP_001257328.1  tubulin alpha-1A chain isoform 1

    See identical proteins and their annotated locations for NP_001257328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate segment at its 5' end which results in the use of a different start codon, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1) but use distinct start codons.
    Source sequence(s)
    AK289483, BC006468, BC057823, DA117857, DC340080
    Consensus CDS
    CCDS58227.1
    UniProtKB/Swiss-Prot
    Q71U36
    Related
    ENSP00000439020.2, ENST00000295766.9
    Conserved Domains (1) summary
    PTZ00335
    Location:1440
    PTZ00335; tubulin alpha chain; Provisional
  2. NM_001270400.1NP_001257329.1  tubulin alpha-1A chain isoform 2

    See identical proteins and their annotated locations for NP_001257329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate segment at its 5' end which results in the use of an in-frame downstream start codon, compared to variant 1. This variant encodes a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AU136397, BC006468, BC057823, DC340080
    Consensus CDS
    CCDS58226.1
    UniProtKB/Swiss-Prot
    Q71U36
    Related
    ENSP00000446637.1, ENST00000550767.5
    Conserved Domains (1) summary
    PTZ00335
    Location:1405
    PTZ00335; tubulin alpha chain; Provisional
  3. NM_006009.4NP_006000.2  tubulin alpha-1A chain isoform 1

    See identical proteins and their annotated locations for NP_006000.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1) but use distinct start codons.
    Source sequence(s)
    BC006468, BC057823, DC340080
    Consensus CDS
    CCDS8781.1
    UniProtKB/Swiss-Prot
    Q71U36
    Related
    ENSP00000301071.7, ENST00000301071.12
    Conserved Domains (1) summary
    PTZ00335
    Location:1440
    PTZ00335; tubulin alpha chain; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49184795..49189324 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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