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    TTC23L tetratricopeptide repeat domain 23 like [ Homo sapiens (human) ]

    Gene ID: 153657, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TTC23Lprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 23 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26355
    See related
    Ensembl:ENSG00000205838 MIM:616344; AllianceGenome:HGNC:26355
    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
    MC25-1
    Summary
    Predicted to be located in cytoplasm; microtubule cytoskeleton; and midbody. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.3), adrenal (RPKM 0.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC23L in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34839164..34925682)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35086287..35172714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34839269..34925787)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15966 Neighboring gene RAI14 divergent transcript Neighboring gene retinoic acid induced 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34700297-34700798 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34700799-34701298 Neighboring gene uncharacterized LOC124900960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34721500-34722000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34722001-34722501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:34735806-34736306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:34736307-34736807 Neighboring gene NANOG hESC enhancer GRCh37_chr5:34736814-34737353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22465 Neighboring gene MPRA-validated peak5222 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22466 Neighboring gene uncharacterized LOC124900959 Neighboring gene TTC23L antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:34866693-34867892 Neighboring gene ribosomal protein L21 pseudogene 54 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene RAD1 checkpoint DNA exonuclease Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974 Neighboring gene DnaJ heat shock protein family (Hsp40) member C21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22470 Neighboring gene alanine--glyoxylate aminotransferase 2

    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. FLJ25439, a novel cytokinesis-associated protein, induces tetraploidization and maintains chromosomal stability via enhancing expression of endoplasmic reticulum stress chaperones. Pan TL, et al. Cell Cycle, 2015. PMID 25751302, Free PMC Article
    2. Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses. Simonis N, et al. Retrovirology, 2012 Mar 29. PMID 22458338, Free PMC Article
    3. Network Analysis of UBE3A/E6AP-Associated Proteins Provides Connections to Several Distinct Cellular Processes. Martínez-Noël G, et al. J Mol Biol, 2018 Mar 30. PMID 29426014, Free PMC Article
    4. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
    5. Genome-scale RNAi screen for host factors required for HIV replication. Zhou H, et al. Cell Host Microbe, 2008 Nov 13. PMID 18976975

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FLJ25439 is involved in pathways related to anti-apoptosis, protein folding, the cell cycle, and cytoskeleton regulation.
      Title: FLJ25439, a novel cytokinesis-associated protein, induces tetraploidization and maintains chromosomal stability via enhancing expression of endoplasmic reticulum stress chaperones.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of tetratricopeptide repeat domain 23-like (TTC23L) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25439

    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 response to endoplasmic reticulum stress NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 23-like

    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_001317949.2 → NP_001304878.1  tetratricopeptide repeat protein 23-like isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC026801, JN799997
      UniProtKB/TrEMBL
      A0A1W2PP54
      Conserved Domains (1) summary
      pfam13424
      Location:262 → 341
      TPR_12; Tetratricopeptide repeat

    2. NM_001386169.1 → NP_001373098.1  tetratricopeptide repeat protein 23-like isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026801
      UniProtKB/TrEMBL
      A0A1W2PP54
      Related
      ENSP00000491000.1, ENST00000638320.2

    3. NM_001386170.1 → NP_001373099.1  tetratricopeptide repeat protein 23-like isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026801
      UniProtKB/TrEMBL
      A0A1W2PP54

    4. NM_001386171.1 → NP_001373100.1  tetratricopeptide repeat protein 23-like isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC026801
      UniProtKB/TrEMBL
      A0A1W2PP54

    5. NM_001386172.1 → NP_001373101.1  tetratricopeptide repeat protein 23-like isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026801
      Consensus CDS
      CCDS54840.1
      UniProtKB/Swiss-Prot
      G8IJH6, Q6PF05, Q6RGS4, Q8N7R3, Q96LJ2
      UniProtKB/TrEMBL
      A0A1W2PP54
      Related
      ENSP00000513788.1, ENST00000698543.1

    6. NM_144725.4 → NP_653326.3  tetratricopeptide repeat protein 23-like isoform 2

      See identical proteins and their annotated locations for NP_653326.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start site, and contains a shorter 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC026801, AK058168, BC057775, BX088767
      Consensus CDS
      CCDS54840.1
      UniProtKB/Swiss-Prot
      G8IJH6, Q6PF05, Q6RGS4, Q8N7R3, Q96LJ2
      UniProtKB/TrEMBL
      A0A1W2PP54
      Related
      ENSP00000422188.1, ENST00000505624.6
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    RNA

    1. NR_169874.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026801

    2. NR_169875.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026801

    3. NR_169876.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026801

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      34839164..34925682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416824.1 → XP_047272780.1  tetratricopeptide repeat protein 23-like isoform X1

      UniProtKB/TrEMBL
      A0A3B3IS63

    2. XM_017009120.3 → XP_016864609.1  tetratricopeptide repeat protein 23-like isoform X1

      UniProtKB/TrEMBL
      A0A1W2PP54, A0A3B3IS63
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    3. XM_011513984.4 → XP_011512286.1  tetratricopeptide repeat protein 23-like isoform X1

      UniProtKB/TrEMBL
      A0A1W2PP54, A0A3B3IS63
      Related
      ENSP00000497109.1, ENST00000514080.2
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    4. XM_011513985.3 → XP_011512287.1  tetratricopeptide repeat protein 23-like isoform X3

      UniProtKB/TrEMBL
      A0A1W2PP54
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    5. XM_017009123.3 → XP_016864612.1  tetratricopeptide repeat protein 23-like isoform X4

      UniProtKB/TrEMBL
      A0A1W2PP54

    6. XM_047416826.1 → XP_047272782.1  tetratricopeptide repeat protein 23-like isoform X6

    7. XM_011513987.4 → XP_011512289.1  tetratricopeptide repeat protein 23-like isoform X6

      Related
      ENSP00000484792.1, ENST00000610313.1

    8. XM_017009121.3 → XP_016864610.1  tetratricopeptide repeat protein 23-like isoform X1

      UniProtKB/TrEMBL
      A0A1W2PP54, A0A3B3IS63
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    9. XM_017009119.3 → XP_016864608.1  tetratricopeptide repeat protein 23-like isoform X2

      UniProtKB/TrEMBL
      A0A1W2PP54

    10. XM_017009124.3 → XP_016864613.1  tetratricopeptide repeat protein 23-like isoform X5

    11. XM_017009122.3 → XP_016864611.1  tetratricopeptide repeat protein 23-like isoform X1

      UniProtKB/TrEMBL
      A0A1W2PP54, A0A3B3IS63
      Conserved Domains (1) summary
      pfam13424
      Location:253 → 332
      TPR_12; Tetratricopeptide repeat

    12. XM_017009126.3 → XP_016864615.1  tetratricopeptide repeat protein 23-like isoform X8

    13. XM_047416825.1 → XP_047272781.1  tetratricopeptide repeat protein 23-like isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      35086287..35172714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351826.1 → XP_054207801.1  tetratricopeptide repeat protein 23-like isoform X1

    2. XM_054351823.1 → XP_054207798.1  tetratricopeptide repeat protein 23-like isoform X1

    3. XM_054351824.1 → XP_054207799.1  tetratricopeptide repeat protein 23-like isoform X1

    4. XM_054351829.1 → XP_054207804.1  tetratricopeptide repeat protein 23-like isoform X3

    5. XM_054351830.1 → XP_054207805.1  tetratricopeptide repeat protein 23-like isoform X4

    6. XM_054351834.1 → XP_054207809.1  tetratricopeptide repeat protein 23-like isoform X6

    7. XM_054351832.1 → XP_054207807.1  tetratricopeptide repeat protein 23-like isoform X6

    8. XM_054351827.1 → XP_054207802.1  tetratricopeptide repeat protein 23-like isoform X1

    9. XM_054351825.1 → XP_054207800.1  tetratricopeptide repeat protein 23-like isoform X2

    10. XM_054351831.1 → XP_054207806.1  tetratricopeptide repeat protein 23-like isoform X5

    11. XM_054351833.1 → XP_054207808.1  tetratricopeptide repeat protein 23-like isoform X7

    12. XM_054351835.1 → XP_054207810.1  tetratricopeptide repeat protein 23-like isoform X8

    13. XM_054351828.1 → XP_054207803.1  tetratricopeptide repeat protein 23-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PF05.2 GenPept UniProtKB/Swiss-Prot:Q6PF05

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