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

Gene ID: 23331, updated on 27-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
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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
  • 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. A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. Izumiyama T, et al. Gene, 2012 Dec 15. PMID 23036704
  2. A genome-wide association study on obesity and obesity-related traits. Wang K, et al. PLoS One, 2011 Apr 28. PMID 21552555, Free PMC Article
  3. WDR76 is a RAS binding protein that functions as a tumor suppressor via RAS degradation. Jeong WJ, et al. Nat Commun, 2019 Jan 17. PMID 30655611, Free PMC Article
  4. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
  5. HectD1 controls hematopoietic stem cell regeneration by coordinating ribosome assembly and protein synthesis. Lv K, et al. Cell Stem Cell, 2021 Jul 1. PMID 33711283, Free PMC Article

See all (62) citations in PubMed

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

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