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

    Gene ID: 283643, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in stomach (RPKM 2.5), colon (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105489855..105499248)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99739223..99748612)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105956192..105965585)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105939600-105940132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6243 Neighboring gene cysteine rich protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105947154-105947875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105954409-105954980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6250 Neighboring gene hESC enhancers GRCh37_chr14:105956919-105957662 and GRCh37_chr14:105957663-105958406 Neighboring gene cysteine rich protein 1 Neighboring gene Sharpr-MPRA regulatory region 9919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974095-105974596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974597-105975096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105978261-105978760 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105986957-105987132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6253 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. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family. Sarli A, et al. Mol Biol Rep, 2024 Jan 22. PMID 38252227
    2. 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
    3. 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
    4. 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
    5. 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

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
      Title: Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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, ENST00000392522.8
      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

      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
      Consensus CDS
      CCDS91958.1
      UniProtKB/Swiss-Prot
      B5MDG3, E9PAQ4, Q86SX3, Q86TT3, Q86TT4, Q86TT5, Q96B41, 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: 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_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

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

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