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    TUBD1 tubulin delta 1 [ Homo sapiens (human) ]

    Gene ID: 51174, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TUBD1 in Genome Data Viewer
    Location:
    17q23.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59859479..59892943, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60728231..60761691, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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. 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
    3. 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
    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. Tissue-specific expression and subcellular localisation of mammalian delta-tubulin. Smrzka OW, et al. Curr Biol, 2000 Apr 6. PMID 10753753

    See all (32) 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

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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

    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

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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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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 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 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

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    Preferred Names
    tubulin delta chain
    Names
    delta-tubulin

    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.

    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_2024_08

    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

      UniProtKB/TrEMBL
      Q5KU37

    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.

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