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

    Gene ID: 283643, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TEDC1 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105489855..105499248)
    RS_2023_10 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 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CRIP1

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001134875.2NP_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:45227
      DUF4509; Domain of unknown function (DUF4509)
      pfam14971
      Location:272424
      DUF4510; Domain of unknown function (DUF4510)
    2. NM_001134876.2NP_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:45196
      DUF4509; Domain of unknown function (DUF4509)
      pfam14971
      Location:239391
      DUF4510; Domain of unknown function (DUF4510)
    3. NM_001134877.1NP_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:9155
      DUF4509; Domain of unknown function (DUF4509)
      pfam14971
      Location:198350
      DUF4510; Domain of unknown function (DUF4510)
    4. NM_001198983.2NP_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:10157
      DUF4509; Domain of unknown function (DUF4509)
      pfam14971
      Location:200352
      DUF4510; Domain of unknown function (DUF4510)
    5. NM_001367178.1NP_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:45227
      DUF4509; Domain of unknown function (DUF4509)
      pfam14971
      Location:341493
      DUF4510; Domain of unknown function (DUF4510)

    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_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.