Aliases for CEP128 Gene

Aliases for CEP128 Gene

  • Centrosomal Protein 128 2 3 5
  • Centrosomal Protein Of 128 KDa 3 4
  • Centrosomal Protein 128kDa 2 3
  • C14orf145 3 4
  • C14orf61 3 4
  • Chromosome 14 Open Reading Frame 145 2
  • Chromosome 14 Open Reading Frame 61 2
  • Lens Epithelium-Derived Protein 3
  • LEDP/132 3
  • CEP128 5
  • Cep128 4

External Ids for CEP128 Gene

Previous HGNC Symbols for CEP128 Gene

  • C14orf61
  • C14orf145

Previous GeneCards Identifiers for CEP128 Gene

  • GC14M080963

Summaries for CEP128 Gene

GeneCards Summary for CEP128 Gene

CEP128 (Centrosomal Protein 128) is a Protein Coding gene. Diseases associated with CEP128 include Hyperthyroidism, Nonautoimmune and Hypothyroidism, Congenital, Nongoitrous, 1.

Additional gene information for CEP128 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP128 Gene

Genomics for CEP128 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP128 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J080941 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 620.8 +17.9 17878 2.9 SP1 HNRNPL CREB1 ZNF629 PRDM10 REST RFX1 SIX5 IKZF1 ZNF692 CEP128 lnc-GTF2A1-5 NMNAT1P1 TSHR piR-59917 DIO2
GH14J081320 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600 -363.4 -363437 4.4 PRDM10 ZNF600 KLF9 OSR2 POLR2A KLF4 MAX RAD21 ZNF189 ZNF335 CEP128 NMNAT1P1 ENSG00000242163 lnc-GTF2A1-4 RF00994-341 GTF2A1 STON2
GH14J080958 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.7 0.0 -4 2.2 SP1 POLR2A BACH1 JUND RELA TCF12 IKZF2 TRIM22 PKNOX1 EED CEP128 lnc-CEP128-1 TSHR BHLHB9P1 GTF2A1
GH14J080957 Enhancer 0.3 Ensembl dbSUPER 600.7 +1.8 1816 0.2 CEP128 lnc-CEP128-1 NMNAT1P1 TSHR
GH14J081085 Promoter 0.3 EPDnew 600.1 -126.2 -126235 0.1 CEP128 piR-33605-159 NMNAT1P1 ENSG00000284959 LOC101928462 TSHR GTF2A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP128 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP128

Genomic Locations for CEP128 Gene

Genomic Locations for CEP128 Gene
chr14:80,476,983-80,959,517
(GRCh38/hg38)
Size:
482,535 bases
Orientation:
Minus strand
chr14:80,943,330-81,425,861
(GRCh37/hg19)
Size:
482,532 bases
Orientation:
Minus strand

Genomic View for CEP128 Gene

Genes around CEP128 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP128 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP128 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP128 Gene

Proteins for CEP128 Gene

  • Protein details for CEP128 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZU80-CE128_HUMAN
    Recommended name:
    Centrosomal protein of 128 kDa
    Protein Accession:
    Q6ZU80
    Secondary Accessions:
    • B9EK52
    • Q86X97
    • Q96ML4

    Protein attributes for CEP128 Gene

    Size:
    1094 amino acids
    Molecular mass:
    128015 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71273.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for CEP128 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP128 Gene

Post-translational modifications for CEP128 Gene

  • Ubiquitination at Lys814 and Lys1064
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP128 Gene

Domains & Families for CEP128 Gene

Gene Families for CEP128 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP128 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP128 Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein of 128 kDa (CE128_HUMAN)
  • C14orf145 protein (Q8N3Z7_HUMAN)
genes like me logo Genes that share domains with CEP128: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP128 Gene

Function for CEP128 Gene

Phenotypes From GWAS Catalog for CEP128 Gene

genes like me logo Genes that share phenotypes with CEP128: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP128

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP128 Gene

Localization for CEP128 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP128 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Note=Associates with the mother centriole.

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 CEP128 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP128 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 21399614
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IEA,IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP128: view

Pathways & Interactions for CEP128 Gene

PathCards logo

SuperPathways for CEP128 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP128 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IMP 23213374
genes like me logo Genes that share ontologies with CEP128: view

No data available for Pathways by source and SIGNOR curated interactions for CEP128 Gene

Drugs & Compounds for CEP128 Gene

No Compound Related Data Available

Transcripts for CEP128 Gene

mRNA/cDNA for CEP128 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP128

Alternative Splicing Database (ASD) splice patterns (SP) for CEP128 Gene

No ASD Table

Relevant External Links for CEP128 Gene

GeneLoc Exon Structure for
CEP128

Expression for CEP128 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP128 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP128 Gene

This gene is overexpressed in Plasma (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP128 Gene



Protein tissue co-expression partners for CEP128 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP128

SOURCE GeneReport for Unigene cluster for CEP128 Gene:

Hs.162889

Evidence on tissue expression from TISSUES for CEP128 Gene

  • Blood(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CEP128: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP128 Gene

Orthologs for CEP128 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP128 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CEP128 30 31
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP128 30 31
  • 88.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP128 30
  • 87.21 (n)
-- 31
  • 85 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cep128 30 17 31
  • 81.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP128 31
  • 57 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEP128 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP128 30 31
  • 65.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP128 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep128 30
  • 57.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep128 30 31
  • 52.59 (n)
OneToOne
Species where no ortholog for CEP128 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 CEP128 Gene

ENSEMBL:
Gene Tree for CEP128 (if available)
TreeFam:
Gene Tree for CEP128 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP128: view image

Paralogs for CEP128 Gene

(2) SIMAP similar genes for CEP128 Gene using alignment to 10 proteins:

  • CE128_HUMAN
  • G3V3F4_HUMAN
  • G3V3U2_HUMAN
  • G3V4J9_HUMAN
  • H0YIZ9_HUMAN
  • H0YJD7_HUMAN
  • H0YJE3_HUMAN
  • H0YJH2_HUMAN
  • Q86TS1_HUMAN
  • Q9ULA4_HUMAN
genes like me logo Genes that share paralogs with CEP128: view

No data available for Paralogs for CEP128 Gene

Variants for CEP128 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP128 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
719368 Likely Benign: not provided 80,792,992(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
722985 Likely Benign: not provided 80,526,987(-) A/G INTRON_VARIANT
724772 Benign: not provided 80,497,551(-) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
742156 Likely Benign: not provided 80,955,860(-) C/T INTRON_VARIANT
776851 Benign: not provided 80,836,311(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CEP128 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP128 Gene

Variant ID Type Subtype PubMed ID
dgv1944n100 CNV loss 25217958
dgv667e212 CNV loss 25503493
esv1363737 CNV insertion 17803354
esv2433413 CNV deletion 19546169
esv2515564 CNV deletion 19546169
esv2657436 CNV deletion 23128226
esv2748924 CNV deletion 23290073
esv2761847 CNV loss 21179565
esv3414044 CNV insertion 20981092
esv3581333 CNV loss 25503493
esv3635071 CNV gain 21293372
esv3635075 CNV gain 21293372
esv3635076 CNV gain 21293372
esv3635077 CNV gain 21293372
esv3635078 CNV loss 21293372
esv3635079 CNV loss 21293372
nsv1035295 CNV loss 25217958
nsv456346 CNV loss 19166990
nsv565290 CNV loss 21841781
nsv565291 CNV loss 21841781
nsv832840 CNV gain 17160897
nsv974475 CNV duplication 23825009
nsv976358 CNV duplication 23825009

Variation tolerance for CEP128 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.65; 91.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP128 Gene

Human Gene Mutation Database (HGMD)
CEP128
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP128

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP128 Gene

Disorders for CEP128 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP128 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperthyroidism, nonautoimmune
  • hyperthyroidism, congenital nonautoimmune
hypothyroidism, congenital, nongoitrous, 1
  • rtsh
seckel syndrome 7
  • sckl7
orofaciodigital syndrome ix
  • ofd9
cone-rod dystrophy 20
  • cord20
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CEP128: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP128 Gene

Publications for CEP128 Gene

  1. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Circular RNA CEP128 promotes bladder cancer progression by regulating Mir-145-5p/Myd88 via MAPK signaling pathway. (PMID: 30939216) Sun M … Bu R (International journal of cancer 2019) 3
  4. CEP128 is a crucial risk locus for autoimmune thyroid diseases. (PMID: 30393005) Wang B … Zhang JA (Molecular and cellular endocrinology 2019) 3
  5. Cep128 associates with Odf2 to form the subdistal appendage of the centriole. (PMID: 30623524) Kashihara H … Tsukita S (Genes to cells : devoted to molecular & cellular mechanisms 2019) 3

Products for CEP128 Gene

Sources for CEP128 Gene