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

Gene ID: 7267, updated on 13-May-2022

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
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Genomic context

See TTC3 in Genome Data Viewer
Location:
21q22.13
Exon count:
48
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37073254..37203118)
110 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 Sharpr-MPRA regulatory region 5899 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P Neighboring gene GFI1 motif-containing MPRA enhancer 103 Neighboring gene TTC3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9 Neighboring gene VPS26 endosomal protein sorting factor C

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

Homology

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
PubMed 
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)

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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_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
    P53804
    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
    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
    UniProtKB/Swiss-Prot
    P53804
    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
    UniProtKB/Swiss-Prot
    P53804
    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
    UniProtKB/Swiss-Prot
    P53804
    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
    P53804
    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
    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
    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
    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
    P53804
    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: 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_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)