TTC28 Gene (Protein Coding)

Tetratricopeptide Repeat Domain 28

GC22M027978
GIFtS:
34
See more...

Aliases for TTC28 Gene

Aliases for TTC28 Gene

  • Tetratricopeptide Repeat Domain 28 2 3 5
  • TPR Repeat-Containing Big Gene Cloned At Keio 3 4
  • Tetratricopeptide Repeat Protein 28 3 4
  • TPR Repeat Protein 28 3 4
  • KIAA1043 2 4
  • TPRBK 3 4
  • TPR-Containing Big Gene Cloned At Keio 3
  • TTC28 5

External Ids for TTC28 Gene

Previous GeneCards Identifiers for TTC28 Gene

  • GC22M026704
  • GC22M028374
  • GC22M011338

Summaries for TTC28 Gene

GeneCards Summary for TTC28 Gene

TTC28 (Tetratricopeptide Repeat Domain 28) is a Protein Coding gene. Diseases associated with TTC28 include Cleft Soft Palate and Chromosome 18Q Deletion Syndrome. An important paralog of this gene is GPSM2.

UniProtKB/Swiss-Prot Summary for TTC28 Gene

  • During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.

Additional gene information for TTC28 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC28 Gene

Genomics for TTC28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TTC28 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC28

Top Transcription factor binding sites by QIAGEN in the TTC28 gene promoter:
  • AML1a
  • AREB6
  • Evi-1
  • FOXC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • SRF
  • SRF (504 AA)

Genomic Locations for TTC28 Gene

Latest Assembly
chr22:27,978,014-28,679,865
(GRCh38/hg38)
Size:
701,852 bases
Orientation:
Minus strand

Previous Assembly
chr22:28,374,002-29,075,853
(GRCh37/hg19 by Entrez Gene)
Size:
701,852 bases
Orientation:
Minus strand

chr22:28,374,004-29,075,853
(GRCh37/hg19 by Ensembl)
Size:
701,850 bases
Orientation:
Minus strand

Genomic View for TTC28 Gene

Genes around TTC28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC28 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TTC28 Gene

Proteins for TTC28 Gene

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  • Protein details for TTC28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AY4-TTC28_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 28
    Protein Accession:
    Q96AY4
    Secondary Accessions:
    • K7ZRV2
    • O95928
    • O95929
    • Q5W189
    • Q9NTE4
    • Q9UG31
    • Q9UGG5
    • Q9UPV8
    • Q9Y3S5

    Protein attributes for TTC28 Gene

    Size:
    2481 amino acids
    Molecular mass:
    270884 Da
    Quaternary structure:
    • Interacts with AURKB.
    SequenceCaution:
    • Sequence=AAH16465.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB62963.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB62964.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TTC28 Gene

Protein Expression for TTC28 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TTC28 Gene

  • Ubiquitination at Lys713
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC28 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTC28 Gene

Domains & Families for TTC28 Gene

Gene Families for TTC28 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TTC28 Gene

InterPro:
Blocks:
  • TPR-related region
ProtoNet:

Suggested Antigen Peptide Sequences for TTC28 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat domain 28 (B0QYP4_HUMAN)
  • Tetratricopeptide repeat domain 28 (B0QYP5_HUMAN)
  • Tetratricopeptide repeat protein 28 (TTC28_HUMAN)
genes like me logo Genes that share domains with TTC28: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTC28 Gene

Function for TTC28 Gene

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  1. Animal Models for research
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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TTC28 Gene

UniProtKB/Swiss-Prot Function:
During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.

Phenotypes From GWAS Catalog for TTC28 Gene

Gene Ontology (GO) - Molecular Function for TTC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0019900 kinase binding IPI 23036704
genes like me logo Genes that share ontologies with TTC28: view
genes like me logo Genes that share phenotypes with TTC28: view

Animal Models for TTC28 Gene

MGI Knock Outs for TTC28:
  • Ttc28 Ttc28<tm1b(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC28

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TTC28 Gene

Localization for TTC28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC28 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Midbody. Note=At interphase, localizes to centrosomes. At prometaphase and metaphase, associated with spindle microtubules and spindle poles. At anaphase, accumulates in the spindle midzone. At telophase, condensed on central spindles. During cytokinesis, condensed on the midbody where it colocalizes with AURKB (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTC28 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TTC28: view

Pathways & Interactions for TTC28 Gene

PathCards logo

SuperPathways for TTC28 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IMP 23036704
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with TTC28: view

No data available for Pathways by source and SIGNOR curated interactions for TTC28 Gene

Drugs & Compounds for TTC28 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TTC28 Gene

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mRNA/cDNA for TTC28 Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC28

Alternative Splicing Database (ASD) splice patterns (SP) for TTC28 Gene

No ASD Table

Relevant External Links for TTC28 Gene

GeneLoc Exon Structure for
TTC28

Expression for TTC28 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTC28 Gene

mRNA expression in normal human tissues for TTC28 Gene
mRNA expression by BioGPS for TTC28 GenemRNA expression by GTEx for TTC28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTC28 Gene

This gene is overexpressed in Testis (14.7), Fetal heart (10.0), Placenta (8.5), Retina (7.2), and Amniocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTC28 Gene



Protein tissue co-expression partners for TTC28 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC28

SOURCE GeneReport for Unigene cluster for TTC28 Gene:

Hs.387856

mRNA Expression by UniProt/SwissProt for TTC28 Gene:

Q96AY4-TTC28_HUMAN
Tissue specificity: Widely expressed in fetal tissues. In adult tissues, expressed in testis and ovary and, at much lower levels, in kidney and pancreas.

Evidence on tissue expression from TISSUES for TTC28 Gene

  • Nervous system(4.9)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TTC28: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC28 Gene

Orthologs for TTC28 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TTC28 30 31
  • 99.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TTC28 30 31
  • 89.89 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TTC28 30 31
  • 89.39 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TTC28 31
  • 89 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TTC28 31
  • 89 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ttc28 30 17 31
  • 84.88 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ttc28 30
  • 84.13 (n)
Chicken
(Gallus gallus)
 Aves TTC28 30 31
  • 79.9 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ttc28 30
  • 74.56 (n)
Zebrafish
(Danio rerio)
 Actinopterygii FP236598.1 31
  • 90 (a)
 OneToMany
TTC28 (1 of 2) 31
  • 72 (a)
 OneToMany
ttc28 30
  • 71.09 (n)
-- 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002648 30
  • 58.24 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG43163 30 31
  • 54.49 (n)
 OneToOne
Species where no ortholog for TTC28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TTC28 Gene

ENSEMBL:
Gene Tree for TTC28 (if available)
TreeFam:
Gene Tree for TTC28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC28: view image

Paralogs for TTC28 Gene

Paralogs for TTC28 Gene

genes like me logo Genes that share paralogs with TTC28: view

Variants for TTC28 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC28 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs12166350 Benign: not provided 28,163,533(-) G/A
NM_001145418.1(TTC28):c.1000C>T (p.Leu334=) 		SYNONYMOUS
rs143432636 Likely Benign: not provided 27,983,132(-) G/A
NM_001145418.1(TTC28):c.6535C>T (p.Arg2179Cys) 		MISSENSE
rs144717854 Benign: not provided 28,107,127(-) G/A
NM_001145418.1(TTC28):c.2718C>T (p.Val906=) 		SYNONYMOUS
rs151258536 Benign: not provided 28,107,592(-) T/C
NM_001145418.1(TTC28):c.2253A>G (p.Arg751=) 		SYNONYMOUS
rs1601475038 Likely Benign: not provided 27,982,797(-) G/A
NM_001145418.1(TTC28):c.6870C>T (p.Tyr2290=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTC28 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTC28 Gene

Variant ID Type Subtype PubMed ID
dgv758n67 CNV loss 20364138
dgv836e214 CNV loss 21293372
esv22533 CNV gain 19812545
esv2669108 CNV deletion 23128226
esv2671339 CNV deletion 23128226
esv2724118 CNV deletion 23290073
esv3307412 CNV mobile element insertion 20981092
esv3382069 CNV insertion 20981092
esv3385637 CNV insertion 20981092
esv3391897 CNV insertion 20981092
esv3430358 CNV insertion 20981092
esv3568347 CNV loss 25503493
esv3568348 CNV loss 25503493
esv3568349 CNV loss 25503493
esv3575474 CNV gain 25503493
esv3647501 CNV loss 21293372
esv3647505 CNV gain 21293372
esv3647506 CNV loss 21293372
esv3647507 CNV loss 21293372
esv3647508 CNV loss 21293372
esv3647510 CNV loss 21293372
esv3647513 CNV loss 21293372
esv3647515 CNV loss 21293372
esv993498 CNV gain 20482838
nsv1061684 CNV loss 25217958
nsv1064079 CNV gain 25217958
nsv1064624 CNV gain 25217958
nsv1109462 CNV deletion 24896259
nsv1114316 CNV deletion 24896259
nsv1114317 CNV deletion 24896259
nsv1143029 CNV tandem duplication 24896259
nsv3588 CNV insertion 18451855
nsv459867 CNV loss 19166990
nsv472424 CNV novel sequence insertion 20440878
nsv473282 CNV novel sequence insertion 20440878
nsv522306 CNV loss 19592680
nsv525906 CNV loss 19592680
nsv526760 CNV loss 19592680
nsv588879 CNV loss 21841781
nsv588880 CNV loss 21841781
nsv588881 CNV loss 21841781
nsv819641 CNV loss 19587683
nsv829147 CNV loss 20364138
nsv829148 CNV loss 20364138
nsv829152 CNV loss 20364138
nsv953065 CNV duplication 24416366
nsv966097 CNV duplication 23825009
nsv9895 CNV gain+loss 18304495

Variation tolerance for TTC28 Gene

Gene Damage Index Score: 5.52; 71.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC28 Gene

Human Gene Mutation Database (HGMD)
TTC28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC28

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC28 Gene

Disorders for TTC28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TTC28 Gene - From: COP

Disorder Aliases PubMed IDs
cleft soft palate
  • cleft velum
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
ankyloglossia with or without tooth anomalies
  • ankg
- elite association - COSMIC cancer census association via MalaCards
Search TTC28 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTC28

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TTC28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTC28 Gene

Publications for TTC28 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. (PMID: 23036704) Izumiyama T … Shimizu N (Gene 2012) 3 4
  3. A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K … Price RA (PloS one 2011) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for TTC28 gene in Mastermind

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