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    TTC28 tetratricopeptide repeat domain 28 [ Homo sapiens (human) ]

    Gene ID: 23331, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TTC28provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 28provided by HGNC
    Primary source
    HGNC:HGNC:29179
    See related
    Ensembl:ENSG00000100154 MIM:615098; AllianceGenome:HGNC:29179
    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
    TPRBK
    Summary
    Enables kinase binding activity. Involved in regulation of mitotic cell cycle. Located in midbody. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.5), endometrium (RPKM 2.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC28 in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (27978014..28679840, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (28439435..29141276, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (28374002..29075828, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28314444-28315429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28315430-28316414 Neighboring gene phosphatidylinositol transfer protein beta Neighboring gene microRNA 3199-1 Neighboring gene microRNA 3199-2 Neighboring gene TTC28 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28376696-28377276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28388821-28389342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28389343-28389862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28391245-28391744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28415419-28415960 Neighboring gene RNA, 7SL, cytoplasmic 757, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:28508589-28509131 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:28532907-28533662 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:28604851-28606050 Neighboring gene small nucleolar RNA SNORD42 Neighboring gene NANOG hESC enhancer GRCh37_chr22:28643774-28644398 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:28711524-28712723 Neighboring gene VISTA enhancer hs1645 Neighboring gene Sharpr-MPRA regulatory region 5107 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:28805414-28805914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13579 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28838691-28839638 Neighboring gene uncharacterized LOC101929594 Neighboring gene microRNA 5739 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:28936993-28937558 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:28948848-28949654 Neighboring gene Sharpr-MPRA regulatory region 11195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29074754-29075258 Neighboring gene RNA, 7SL, cytoplasmic 162, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:29132277-29132794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29132795-29133312 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29133817-29134317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18806 Neighboring gene checkpoint kinase 2 Neighboring gene HscB mitochondrial iron-sulfur cluster cochaperone

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. observations indicated that a novel big protein TPRBK is essential for the formation and integrity of the midbody, hence we postulated that TPRBK plays a critical role in the progress of mitosis and cytokinesis during mammalian cell cycle
      Title: A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study on obesity and obesity-related traits.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    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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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of tetratricopeptide repeat domain 28 (TTC28) in Vif-expression T 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

    • KIAA1043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 28
    Names
    TPR repeat protein 28
    TPR repeat-containing big gene cloned at Keio
    TPR-containing big gene cloned at Keio
    NP_001138890.1
    NP_001380332.1
    NP_001380333.1
    NP_001380334.1
    XP_011528320.1
    XP_011528321.1
    XP_011528322.1
    XP_011528323.1
    XP_016884162.1
    XP_047297170.1
    XP_047297171.1
    XP_054181272.1
    XP_054181273.1
    XP_054181274.1
    XP_054181275.1
    XP_054181276.1
    XP_054181277.1
    XP_054181278.1

    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_001145418.2 → NP_001138890.1  tetratricopeptide repeat protein 28 isoform 1

      See identical proteins and their annotated locations for NP_001138890.1

      Status: VALIDATED

      Source sequence(s)
      AL023281, AL033538, AL035397, AL035453, AL050313, AL121825
      Consensus CDS
      CCDS46678.1
      UniProtKB/Swiss-Prot
      K7ZRV2, O95928, O95929, Q5W189, Q96AY4, Q9NTE4, Q9UG31, Q9UGG5, Q9UPV8, Q9Y3S5
      UniProtKB/TrEMBL
      A0A087WW06
      Related
      ENSP00000381003.2, ENST00000397906.7
      Conserved Domains (7) summary
      smart00028
      Location:394 → 426
      TPR; Tetratricopeptide repeats
      COG0457
      Location:694 → 995
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:91 → 121
      TPR; TPR repeat [structural motif]
      pfam12770
      Location:1390 → 1713
      CHAT; CHAT domain
      pfam13176
      Location:959 → 994
      TPR_7; Tetratricopeptide repeat
      pfam13414
      Location:94 → 157
      TPR_11; TPR repeat
      pfam13424
      Location:315 → 386
      TPR_12; Tetratricopeptide repeat

    2. NM_001393403.1 → NP_001380332.1  tetratricopeptide repeat protein 28 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL023281, AL033538, AL035397, AL035453, AL050313, AL121825
      UniProtKB/TrEMBL
      A0A087WW06
      Conserved Domains (5) summary
      TIGR02917
      Location:47 → 937
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:91 → 121
      TPR; TPR repeat [structural motif]
      pfam05109
      Location:2080 → 2328
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13424
      Location:957 → 1029
      TPR_12; Tetratricopeptide repeat
      pfam12770
      Location:1390 → 1713
      CHAT; CHAT domain

    3. NM_001393404.1 → NP_001380333.1  tetratricopeptide repeat protein 28 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL023281, AL033538, AL035397, AL035453, AL050313, AL080241
      UniProtKB/TrEMBL
      A0A087WW06
      Related
      ENSP00000479834.1, ENST00000612946.4
      Conserved Domains (5) summary
      COG0457
      Location:576 → 877
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:476 → 504
      TPR; TPR repeat [structural motif]
      pfam05109
      Location:1970 → 2218
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13424
      Location:239 → 308
      TPR_12; Tetratricopeptide repeat
      pfam12770
      Location:1272 → 1595
      CHAT; CHAT domain

    4. NM_001393405.1 → NP_001380334.1  tetratricopeptide repeat protein 28 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL023281, AL033538, AL035397, AL035453, AL050313, AL080241
      UniProtKB/TrEMBL
      A0A087WW06
      Conserved Domains (5) summary
      COG0457
      Location:576 → 877
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:476 → 504
      TPR; TPR repeat [structural motif]
      pfam05109
      Location:1962 → 2210
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13424
      Location:239 → 308
      TPR_12; Tetratricopeptide repeat
      pfam12770
      Location:1272 → 1595
      CHAT; CHAT domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      27978014..28679840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441214.1 → XP_047297170.1  tetratricopeptide repeat protein 28 isoform X3

    2. XM_011530018.4 → XP_011528320.1  tetratricopeptide repeat protein 28 isoform X1

      UniProtKB/TrEMBL
      A0A087WW06
      Conserved Domains (7) summary
      smart00028
      Location:368 → 400
      TPR; Tetratricopeptide repeats
      COG0457
      Location:668 → 969
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:65 → 95
      TPR; TPR repeat [structural motif]
      pfam12770
      Location:1364 → 1687
      CHAT; CHAT domain
      pfam13176
      Location:933 → 968
      TPR_7; Tetratricopeptide repeat
      pfam13414
      Location:68 → 131
      TPR_11; TPR repeat
      pfam13424
      Location:289 → 360
      TPR_12; Tetratricopeptide repeat

    3. XM_017028673.3 → XP_016884162.1  tetratricopeptide repeat protein 28 isoform X2

      UniProtKB/TrEMBL
      A0A087WW06

    4. XM_047441215.1 → XP_047297171.1  tetratricopeptide repeat protein 28 isoform X4

    5. XM_011530019.3 → XP_011528321.1  tetratricopeptide repeat protein 28 isoform X5

      Conserved Domains (5) summary
      COG0457
      Location:418 → 717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:91 → 121
      TPR; TPR repeat [structural motif]
      pfam13176
      Location:959 → 994
      TPR_7; Tetratricopeptide repeat
      pfam13414
      Location:94 → 157
      TPR_11; TPR repeat
      pfam13424
      Location:315 → 386
      TPR_12; Tetratricopeptide repeat

    6. XM_011530021.4 → XP_011528323.1  tetratricopeptide repeat protein 28 isoform X7

      Conserved Domains (5) summary
      COG0457
      Location:698 → 995
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:91 → 121
      TPR; TPR repeat [structural motif]
      pfam13176
      Location:959 → 994
      TPR_7; Tetratricopeptide repeat
      pfam13414
      Location:593 → 665
      TPR_11; TPR repeat
      pfam13424
      Location:515 → 586
      TPR_12; Tetratricopeptide repeat

    7. XM_011530020.2 → XP_011528322.1  tetratricopeptide repeat protein 28 isoform X6

      Conserved Domains (5) summary
      COG0457
      Location:698 → 995
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:91 → 121
      TPR; TPR repeat [structural motif]
      pfam13176
      Location:959 → 994
      TPR_7; Tetratricopeptide repeat
      pfam13414
      Location:593 → 665
      TPR_11; TPR repeat
      pfam13424
      Location:515 → 586
      TPR_12; Tetratricopeptide repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      28439435..29141276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325299.1 → XP_054181274.1  tetratricopeptide repeat protein 28 isoform X3

    2. XM_054325297.1 → XP_054181272.1  tetratricopeptide repeat protein 28 isoform X1

    3. XM_054325298.1 → XP_054181273.1  tetratricopeptide repeat protein 28 isoform X2

    4. XM_054325300.1 → XP_054181275.1  tetratricopeptide repeat protein 28 isoform X4

    5. XM_054325301.1 → XP_054181276.1  tetratricopeptide repeat protein 28 isoform X5

    6. XM_054325303.1 → XP_054181278.1  tetratricopeptide repeat protein 28 isoform X7

    7. XM_054325302.1 → XP_054181277.1  tetratricopeptide repeat protein 28 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015281.1: Suppressed sequence

      Description
      NM_015281.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AY4.4 GenPept UniProtKB/Swiss-Prot:Q96AY4

    Gene LinkOut

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

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