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TEDC1 tubulin epsilon and delta complex 1 [ Homo sapiens (human) ]

Gene ID: 283643, updated on 5-Aug-2022

Summary

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Official Symbol
TEDC1provided by HGNC
Official Full Name
tubulin epsilon and delta complex 1provided by HGNC
Primary source
HGNC:HGNC:20127
See related
Ensembl:ENSG00000185347 AllianceGenome:HGNC:20127
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
C14orf80
Summary
Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in stomach (RPKM 2.5), colon (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

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See TEDC1 in Genome Data Viewer
Location:
14q32.33
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105489855..105499248)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99739223..99748612)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105956192..105965585)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cysteine rich protein 2 Neighboring gene cysteine rich protein 1 Neighboring gene transmembrane protein 121 Neighboring gene uncharacterized LOC105370697

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
  • 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. Direct Interaction of Chivosazole F with Actin Elicits Cell Responses Similar to Latrunculin A but Distinct from Chondramide. Filipuzzi I, et al. ACS Chem Biol, 2017 Sep 15. PMID 28796488
  2. Construction and characterization of a normalized yeast two-hybrid library derived from a human protein-coding clone collection. DeGrado-Warren J, et al. Biotechniques, 2008 Feb. PMID 18330356
  3. Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer. Vatapalli R, et al. Nat Commun, 2020 Aug 19. PMID 32814769, Free PMC Article
  4. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
  5. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article

See all (19) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CRIP1

Homology

Clone Names

  • MGC16771

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in centriole ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tubulin epsilon and delta complex protein 1
Names
uncharacterized protein C14orf80

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_001134875.2 → NP_001128347.1  tubulin epsilon and delta complex protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL928654, AW236560
    Consensus CDS
    CCDS45181.1
    UniProtKB/Swiss-Prot
    Q86SX3
    Related
    ENSP00000376307.3, ENST00000392522.7
    Conserved Domains (2) summary
    pfam14970
    Location:45 → 227
    DUF4509; Domain of unknown function (DUF4509)
    pfam14971
    Location:272 → 424
    DUF4510; Domain of unknown function (DUF4510)

  2. NM_001134876.2 → NP_001128348.1  tubulin epsilon and delta complex protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1, that results in a shorter protein (isoform 2) when compared to isoform 1.
    Source sequence(s)
    AL928654, AW236560, BX248283
    Consensus CDS
    CCDS45182.1
    UniProtKB/Swiss-Prot
    Q86SX3
    Related
    ENSP00000346568.6, ENST00000354560.10
    Conserved Domains (2) summary
    pfam14970
    Location:45 → 196
    DUF4509; Domain of unknown function (DUF4509)
    pfam14971
    Location:239 → 391
    DUF4510; Domain of unknown function (DUF4510)

  3. NM_001134877.1 → NP_001128349.1  tubulin epsilon and delta complex protein 1 isoform 4 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and has multiple 5' coding region differences, compared to variant 1. These differences cause translation initiation to occur at a novel exon and results in an isoform (4) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AW236560, BX248038
    Consensus CDS
    CCDS45180.1
    UniProtKB/Swiss-Prot
    Q86SX3
    Related
    ENSP00000376312.1, ENST00000392527.5
    Conserved Domains (2) summary
    pfam14970
    Location:9 → 155
    DUF4509; Domain of unknown function (DUF4509)
    pfam14971
    Location:198 → 350
    DUF4510; Domain of unknown function (DUF4510)

  4. NM_001198983.2 → NP_001185912.1  tubulin epsilon and delta complex protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001185912.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AW236560, BX161477
    Consensus CDS
    CCDS55955.1
    UniProtKB/Swiss-Prot
    Q86SX3
    Related
    ENSP00000333010.7, ENST00000329886.11
    Conserved Domains (2) summary
    pfam14970
    Location:10 → 157
    DUF4509; Domain of unknown function (DUF4509)
    pfam14971
    Location:200 → 352
    DUF4510; Domain of unknown function (DUF4510)

  5. NM_001367178.1 → NP_001354107.1  tubulin epsilon and delta complex protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL928654, BX248074
    UniProtKB/Swiss-Prot
    Q9H7H4
    Related
    ENSP00000376308.4, ENST00000392523.9
    Conserved Domains (2) summary
    pfam14970
    Location:45 → 227
    DUF4509; Domain of unknown function (DUF4509)
    pfam14971
    Location:341 → 493
    DUF4510; Domain of unknown function (DUF4510)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    105489855..105499248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99739223..99748612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173608.2: Suppressed sequence

    Description
    NM_173608.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SX3.2 GenPept UniProtKB/Swiss-Prot:Q86SX3

Gene LinkOut

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