TUBA8 tubulin alpha 8 [Homo sapiens (human)] - Gene

Summary

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

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_000022.11 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 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?

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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482075

RH48663 (e-PCR)
- UniSTS:78881

NoName (e-PCR)
- UniSTS:480955

D22S981E (e-PCR)
- UniSTS:91370

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

NG_023429.2 RefSeqGene

Range

5002..25925

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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