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TUBA8 tubulin alpha 8 [ Homo sapiens (human) ]

Gene ID: 51807, updated on 2-Nov-2024

Summary

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Official Symbol
TUBA8provided by HGNC
Official Full Name
tubulin alpha 8provided by HGNC
Primary source
HGNC:HGNC:12410
See related
Ensembl:ENSG00000183785 MIM:605742; AllianceGenome:HGNC:12410
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
CDCBM8; TUBAL2; MACTHC2
Summary
This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Expression
Biased expression in heart (RPKM 36.8), testis (RPKM 14.8) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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See TUBA8 in Genome Data Viewer
Location:
22q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18110809..18131732)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18782719..18803642)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18593575..18614499)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18544003-18544503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13447 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:18552873-18554072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18649 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18564135-18564340 Neighboring gene peroxisomal biogenesis factor 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18588685-18589186 Neighboring gene ARF like GTPase 2 binding protein pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13449 Neighboring gene uncharacterized LOC124905076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18638089-18638590 Neighboring gene ubiquitin specific peptidase 18 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18647775-18648464 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:18648465-18649153

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome. Dantas AG, et al. Hum Genet, 2019 Jan. PMID 30627818
  2. TUBA8: A new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse. Stanchi F, et al. Biochem Biophys Res Commun, 2000 Apr 21. PMID 10772959
  3. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Abdollahi MR, et al. Am J Hum Genet, 2009 Nov. PMID 19896110, Free PMC Article
  4. Tubulin alpha 8 is expressed in hepatic stellate cells and is induced in transformed hepatocytes. Rein-Fischboeck L, et al. Mol Cell Biochem, 2017 Apr. PMID 28063004
  5. Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors in Ankylosing Spondylitis With Femoral Head Necrosis. Jiang J, et al. Front Immunol, 2021. PMID 35126370, Free PMC Article

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors in Ankylosing Spondylitis With Femoral Head Necrosis.
    Title: Dysregulation of SAA1, TUBA8 and Monocytes Are Key Factors in Ankylosing Spondylitis With Femoral Head Necrosis.
  2. Low TUBA8 expression is associated with 22q11.2 deletion syndrome.
    Title: Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
  3. Data provide evidence for a role of TUBA8 in hepatic fibrogenesis and malignancies making it a novel player in non-alcoholic steatohepatitis and hepatocellular carcinoma pathology.
    Title: Tubulin alpha 8 is expressed in hepatic stellate cells and is induced in transformed hepatocytes.
  4. TUBA8 can play a role in the regulation of cell growth, proliferation, and cell migration in a cell-specific manner in vitro.
    Title: Role of a novel CAR-induced gene, TUBA8, in hepatocellular carcinoma cell lines.
  5. 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.
  6. TUBA8 is expressed at low levels in the developing human brain.
    Title: Tuba8 is expressed at low levels in the developing mouse and human brain.
  7. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
    Title: Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Macrothrombocytopenia, isolated, 2, autosomal dominant
MedGen: C5676968 OMIM: 619840 GeneReviews: Not available
not available

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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Replication interactions

Interaction Pubs
Knockdown of tubulin, alpha 8 (TUBA8) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 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
Rev rev HIV-1 Rev interacting protein, TUBA8, 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 (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
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 (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
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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
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
  
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
tubulin alpha-8 chain
Names
tubulin alpha 8 trucated form
tubulin alpha chain-like 2

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.

Genomic

  1. NG_023429.2 RefSeqGene

    Range
    5002..25925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193414.2 → NP_001180343.1  tubulin alpha-8 chain isoform 2

    See identical proteins and their annotated locations for NP_001180343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC008079, AJ245922, AK056947
    Consensus CDS
    CCDS54495.1
    UniProtKB/TrEMBL
    B3KPS3, B3KT06
    Related
    ENSP00000318575.6, ENST00000316027.10
    Conserved Domains (1) summary
    PTZ00335
    Location:1 → 373
    PTZ00335; tubulin alpha chain; Provisional

  2. NM_018943.3 → NP_061816.1  tubulin alpha-8 chain isoform 1

    See identical proteins and their annotated locations for NP_061816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008079, AJ245922, DA059342
    Consensus CDS
    CCDS13751.1
    UniProtKB/Swiss-Prot
    B2RCX2, B3KPW9, Q2M3N4, Q9NY65
    UniProtKB/TrEMBL
    C9J2C0
    Related
    ENSP00000333326.3, ENST00000330423.8
    Conserved Domains (1) summary
    PTZ00335
    Location:1 → 439
    PTZ00335; tubulin alpha chain; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    18110809..18131732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    18782719..18803642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NY65.1 GenPept UniProtKB/Swiss-Prot:Q9NY65

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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