U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TUBD1 tubulin delta 1 [ Homo sapiens (human) ]

Gene ID: 51174, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TUBD1provided by HGNC
Official Full Name
tubulin delta 1provided by HGNC
Primary source
HGNC:HGNC:16811
See related
Ensembl:ENSG00000108423 MIM:607344; AllianceGenome:HGNC:16811
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
TUBD
Summary
Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization; mitotic cell cycle; and positive regulation of smoothened signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TUBD1 in Genome Data Viewer
Location:
17q23.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59859479..59892943, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60728231..60761691, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57936840..57970304, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene vacuole membrane protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:57919688-57919882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57923900-57924888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57931677-57932291 Neighboring gene RNA, U6 small nuclear 450, pseudogene Neighboring gene microRNA 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8784 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 Neighboring gene ribosomal protein S6 kinase B1 Neighboring gene ribosomal protein S29 pseudogene 21 Neighboring gene TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8785 Neighboring gene ring finger protein, transmembrane 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development. Villegas-Ruiz V, et al. Exp Eye Res, 2017 Feb. PMID 28137601
  2. Centriole triplet microtubules are required for stable centriole formation and inheritance in human cells. Wang JT, et al. Elife, 2017 Sep 14. PMID 28906251, Free PMC Article
  3. Delta-tubulin and epsilon-tubulin: two new human centrosomal tubulins reveal new aspects of centrosome structure and function. Chang P, et al. Nat Cell Biol, 2000 Jan. PMID 10620804
  4. Delta-tubulin is a component of intercellular bridges and both the early and mature perinuclear rings during spermatogenesis. Kato A, et al. Dev Biol, 2004 May 1. PMID 15081367
  5. Cloning of the canine delta tubulin cDNA (TUBD) and mapping to CFA9. Sidjanin DJ, et al. Anim Genet, 2002 Apr. PMID 12047234

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Here, the authors report that centrioles in delta-tubulin and epsilon-tubulin null mutant human cells lack triplet microtubules and fail to undergo centriole maturation.
    Title: Centriole triplet microtubules are required for stable centriole formation and inheritance in human cells.
  2. our data suggest that TUBD1 mRNA isoform expression profile in peripheral blood could be an accessible biomarker for predicting the risk for diabetic retinopathy development.
    Title: Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development.
  3. 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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
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

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ12709

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
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 positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
tubulin delta chain
Names
delta-tubulin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001193609.2 → NP_001180538.1  tubulin delta chain isoform 2

    See identical proteins and their annotated locations for NP_001180538.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate, in-frame, segment, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AK024741, BC000258, BG682935, BX119803
    Consensus CDS
    CCDS54153.1
    UniProtKB/TrEMBL
    Q5KU37
    Related
    ENSP00000342399.5, ENST00000340993.10
    Conserved Domains (1) summary
    cd02189
    Location:2 → 397
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families

  2. NM_001193610.2 → NP_001180539.1  tubulin delta chain isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate, in-frame, segment and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB030837, AK024741, AK298492, BG682935, BX119803
    Consensus CDS
    CCDS54154.1
    UniProtKB/TrEMBL
    B3KMV1
    Related
    ENSP00000377785.3, ENST00000394239.7
    Conserved Domains (2) summary
    cd02189
    Location:2 → 395
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families
    pfam00091
    Location:2 → 213
    Tubulin; Tubulin/FtsZ family, GTPase domain

  3. NM_001193611.2 → NP_001180540.1  tubulin delta chain isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate, in-frame, segments in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB030837, AB031045, AK024741, BG682935, BX119803, DA607129
    Consensus CDS
    CCDS54152.1
    UniProtKB/TrEMBL
    Q5KU37
    Related
    ENSP00000480387.1, ENST00000613721.4
    Conserved Domains (2) summary
    cd02189
    Location:2 → 350
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families
    pfam00091
    Location:2 → 213
    Tubulin; Tubulin/FtsZ family, GTPase domain

  4. NM_001193612.2 → NP_001180541.1  tubulin delta chain isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' end, which results in the use of a downstream start codon, and lacks an alternate, in-frame segment in the 3' coding region, compared to variant 1. The resulting protein (isoform 5) has a shorter N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AB030837, AK024741, AK315172, BG682935, BX119803, DA607129
    UniProtKB/Swiss-Prot
    Q9UJT1
    Conserved Domains (2) summary
    cd02189
    Location:1 → 278
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families
    pfam00091
    Location:1 → 94
    Tubulin; Tubulin/FtsZ family, GTPase domain

  5. NM_001193613.2 → NP_001180542.1  tubulin delta chain isoform 6

    See identical proteins and their annotated locations for NP_001180542.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks three alternate exons in the 5' coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 6) has a shorter N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AB030837, AK024741, AK301312, BG682935, BX119803
    Consensus CDS
    CCDS54151.1
    UniProtKB/Swiss-Prot
    Q9UJT1
    Related
    ENSP00000441757.1, ENST00000539018.5
    Conserved Domains (1) summary
    cd02189
    Location:1 → 236
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families

  6. NM_016261.4 → NP_057345.2  tubulin delta chain isoform 1

    See identical proteins and their annotated locations for NP_057345.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AB030837, AK024741, BG682935, BX119803, DA607129
    Consensus CDS
    CCDS11620.1
    UniProtKB/Swiss-Prot
    B4DPT8, B4DW01, D3DU02, E9PCA7, E9PCQ8, Q5KU36, Q9BWG9, Q9H7Z8, Q9UJT1
    UniProtKB/TrEMBL
    B3KMV1
    Related
    ENSP00000320797.3, ENST00000325752.8
    Conserved Domains (2) summary
    cd02189
    Location:2 → 452
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families
    pfam00091
    Location:2 → 213
    Tubulin; Tubulin/FtsZ family, GTPase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    59859479..59892943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436202.1 → XP_047292158.1  tubulin delta chain isoform X5

  2. XM_047436200.1 → XP_047292156.1  tubulin delta chain isoform X3

  3. XM_011524871.4 → XP_011523173.1  tubulin delta chain isoform X1

    UniProtKB/TrEMBL
    B3KMV1
    Conserved Domains (2) summary
    cd02189
    Location:2 → 405
    delta_zeta_tubulin-like; The delta- and zeta-tubulin families
    pfam00091
    Location:2 → 213
    Tubulin; Tubulin/FtsZ family, GTPase domain

  4. XM_017024716.3 → XP_016880205.1  tubulin delta chain isoform X2

  5. XM_047436201.1 → XP_047292157.1  tubulin delta chain isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    60728231..60761691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316354.1 → XP_054172329.1  tubulin delta chain isoform X5

  2. XM_054316352.1 → XP_054172327.1  tubulin delta chain isoform X3

  3. XM_054316350.1 → XP_054172325.1  tubulin delta chain isoform X1

  4. XM_054316351.1 → XP_054172326.1  tubulin delta chain isoform X2

  5. XM_054316353.1 → XP_054172328.1  tubulin delta chain isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJT1.2 GenPept UniProtKB/Swiss-Prot:Q9UJT1

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous