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    TTC3 tetratricopeptide repeat domain 3 [ Homo sapiens (human) ]

    Gene ID: 7267, updated on 17-Jun-2024

    Summary

    Official Symbol
    TTC3provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 3provided by HGNC
    Primary source
    HGNC:HGNC:12393
    See related
    Ensembl:ENSG00000182670 MIM:602259; AllianceGenome:HGNC:12393
    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
    DCRR1; RNF105; TPRDIII
    Summary
    Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 28.4), thyroid (RPKM 22.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TTC3 in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37073254..37203118)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35455436..35585344)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38445554..38575419)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 696, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13296 Neighboring gene Sharpr-MPRA regulatory region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13298 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P Neighboring gene GFI1 motif-containing MPRA enhancer 103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38519638-38520138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18443 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 Neighboring gene TTC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38579468-38580304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18445 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18446 Neighboring gene VPS26 endosomal protein sorting factor C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38629775-38630367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38630368-38630960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13300

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Digital quantification of human eye color highlights genetic association of three new loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of tetratricopeptide repeat domain 3 (TTC3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686M0150

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase TTC3
    Names
    RING finger protein 105
    RING-type E3 ubiquitin transferase TTC3
    TPR repeat protein 3
    TPR repeat protein D
    tetratricopeptide repeat protein 3
    NP_001001894.1
    NP_001307632.1
    NP_001307633.1
    NP_001317610.1
    NP_001317611.1
    NP_001317612.1
    NP_001340865.1
    NP_001340866.1
    NP_001340867.1
    NP_003307.3

    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_001001894.3NP_001001894.1  E3 ubiquitin-protein ligase TTC3 isoform 1

      See identical proteins and their annotated locations for NP_001001894.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 7, encodes isoform 1.
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS13651.1
      UniProtKB/Swiss-Prot
      A8K7H7, B2RPA7, D3DSG9, D3DSH2, D3DSH3, O60767, P53804, P78476, P78477, Q569I2, Q6P578, Q9UEK4
      UniProtKB/TrEMBL
      A0A8Q3WLN3
      Related
      ENSP00000408456.2, ENST00000450533.6
      Conserved Domains (4) summary
      sd00006
      Location:232259
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:243321
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:540605
      TPR_11; TPR repeat
      pfam13639
      Location:19561996
      zf-RING_2; Ring finger domain
    2. NM_001320703.2NP_001307632.1  E3 ubiquitin-protein ligase TTC3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AI066542, AI745113, AL040434, AP001429, AP001432, AW510696, BE780449, BG029806, BP327196, BU179028, BU508034, CD244359, CD655107, CT002499, DB484247
      UniProtKB/TrEMBL
      A0A8Q3WLN3
      Conserved Domains (4) summary
      sd00006
      Location:254281
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:265343
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:562627
      TPR_11; TPR repeat
      pfam13639
      Location:19962036
      zf-RING_2; Ring finger domain
    3. NM_001320704.2NP_001307633.1  E3 ubiquitin-protein ligase TTC3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA482675, AK291992, AL040434, AP001429, AP001432, AW510696, BP327196, BU508034, CN350112, CT002499, CX868913, D84294, DB484247
      Consensus CDS
      CCDS93095.1
      UniProtKB/TrEMBL
      A0A8Q3WLN3, H7BZ57
      Related
      ENSP00000387880.2, ENST00000411496.2
      Conserved Domains (4) summary
      sd00006
      Location:232259
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:243321
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:540605
      TPR_11; TPR repeat
      pfam13639
      Location:19742014
      zf-RING_2; Ring finger domain
    4. NM_001330681.2NP_001317610.1  E3 ubiquitin-protein ligase TTC3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 6 and 8, encodes isoform 4.
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS93096.1
      UniProtKB/TrEMBL
      Q5CZA6
      Related
      ENSP00000512889.1, ENST00000492275.6
      Conserved Domains (3) summary
      sd00006
      Location:181208
      TPR; TPR repeat [structural motif]
      cd16481
      Location:16461687
      RING-H2_TTC3; RING finger, H2 subclass, found in Tetratricopeptide repeat protein 3 (TTC3) and similar proteins
      cl25732
      Location:11761422
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001330682.2NP_001317611.1  E3 ubiquitin-protein ligase TTC3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 5 and 8, encodes isoform 4.
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS93096.1
      UniProtKB/TrEMBL
      Q5CZA6
      Related
      ENSP00000512893.1, ENST00000463216.6
      Conserved Domains (3) summary
      sd00006
      Location:181208
      TPR; TPR repeat [structural motif]
      cd16481
      Location:16461687
      RING-H2_TTC3; RING finger, H2 subclass, found in Tetratricopeptide repeat protein 3 (TTC3) and similar proteins
      cl25732
      Location:11761422
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001330683.2NP_001317612.1  E3 ubiquitin-protein ligase TTC3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 1 and 2, encodes isoform 1.
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS13651.1
      UniProtKB/Swiss-Prot
      A8K7H7, B2RPA7, D3DSG9, D3DSH2, D3DSH3, O60767, P53804, P78476, P78477, Q569I2, Q6P578, Q9UEK4
      UniProtKB/TrEMBL
      A0A8Q3WLN3
      Related
      ENSP00000403943.2, ENST00000418766.6
    7. NM_001353936.2NP_001340865.1  E3 ubiquitin-protein ligase TTC3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 5 and 6, encodes isoform 4.
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS93096.1
      UniProtKB/TrEMBL
      Q5CZA6
      Conserved Domains (3) summary
      sd00006
      Location:181208
      TPR; TPR repeat [structural motif]
      cd16481
      Location:16461687
      RING-H2_TTC3; RING finger, H2 subclass, found in Tetratricopeptide repeat protein 3 (TTC3) and similar proteins
      cl25732
      Location:11761422
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001353937.2NP_001340866.1  E3 ubiquitin-protein ligase TTC3 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 10, encodes isoform 5.
      Source sequence(s)
      AP001429, AP001432, KF510554
      UniProtKB/TrEMBL
      Q5CZA6
      Conserved Domains (2) summary
      cd16481
      Location:12341275
      RING-H2_TTC3; RING finger, H2 subclass, found in Tetratricopeptide repeat protein 3 (TTC3) and similar proteins
      cl25732
      Location:7641010
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001353938.2NP_001340867.1  E3 ubiquitin-protein ligase TTC3 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 9, encodes isoform 5.
      Source sequence(s)
      AP001429, AP001432, KF510554
      UniProtKB/TrEMBL
      Q5CZA6
      Conserved Domains (2) summary
      cd16481
      Location:12341275
      RING-H2_TTC3; RING finger, H2 subclass, found in Tetratricopeptide repeat protein 3 (TTC3) and similar proteins
      cl25732
      Location:7641010
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_003316.4NP_003307.3  E3 ubiquitin-protein ligase TTC3 isoform 1

      See identical proteins and their annotated locations for NP_003307.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and has multiple coding region differences compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (1) with a shorter N-terminus compared to isoform 3. Variants 1, 2, and 7 all encode the same isoform (1).
      Source sequence(s)
      AP001429, AP001432, KF510554
      Consensus CDS
      CCDS13651.1
      UniProtKB/Swiss-Prot
      A8K7H7, B2RPA7, D3DSG9, D3DSH2, D3DSH3, O60767, P53804, P78476, P78477, Q569I2, Q6P578, Q9UEK4
      UniProtKB/TrEMBL
      A0A8Q3WLN3
      Related
      ENSP00000381981.2, ENST00000399017.6
      Conserved Domains (4) summary
      sd00006
      Location:232259
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:243321
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:540605
      TPR_11; TPR repeat
      pfam13639
      Location:19561996
      zf-RING_2; Ring finger 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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      37073254..37203118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      35455436..35585344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)