Human Gene TUBGCP4 (uc001zrn.3) Description and Page Index
  Description: Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.
RefSeq Summary (NM_014444): This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015].
Transcript (Including UTRs)
   Position: hg19 chr15:43,663,313-43,698,240 Size: 34,928 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr15:43,663,553-43,697,412 Size: 33,860 Coding Exon Count: 18 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:43,663,313-43,698,240)mRNA (may differ from genome)Protein (666 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TUBGCP4
CDC HuGE Published Literature: TUBGCP4

-  MalaCards Disease Associations
  MalaCards Gene Search: TUBGCP4
Diseases sorted by gene-association score: microcephaly and chorioretinopathy, autosomal recessive, 3* (1019), autosomal recessive chorioretinopathy-microcephaly syndrome* (247), optic nerve hypoplasia (7), esophageal varix (6), microcephaly (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.85 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 233.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.03240-0.454 Picture PostScript Text
3' UTR -232.62828-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF04130 - Spc97 / Spc98 family

ModBase Predicted Comparative 3D Structure on Q9UGJ1-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  LF205857 - JP 2014500723-A/13360: Polycomb-Associated Non-Coding RNAs.
AK027703 - Homo sapiens cDNA FLJ14797 fis, clone NT2RP4001256, highly similar to Gamma-tubulin complex component 4.
AK026551 - Homo sapiens cDNA: FLJ22898 fis, clone KAT05117, highly similar to HSA249677 Homo sapiens mRNA for gamma tubulin ring complex protein (76p gene).
BC012801 - Homo sapiens tubulin, gamma complex associated protein 4, mRNA (cDNA clone MGC:2720 IMAGE:2821891), complete cds.
BC009870 - Homo sapiens tubulin, gamma complex associated protein 4, mRNA (cDNA clone MGC:16407 IMAGE:3940649), complete cds.
LF348944 - JP 2014500723-A/156447: Polycomb-Associated Non-Coding RNAs.
AJ249677 - Homo sapiens mRNA for gamma tubulin ring complex protein (76p gene).
CU680398 - Synthetic construct Homo sapiens gateway clone IMAGE:100017444 5' read TUBGCP4 mRNA.
DQ896017 - Synthetic construct Homo sapiens clone IMAGE:100010477; FLH189530.01L; RZPDo839G0364D gamma tubulin ring complex protein (76p gene) (76P) gene, encodes complete protein.
EU176400 - Synthetic construct Homo sapiens clone IMAGE:100006485; FLH189537.01X; RZPDo839E03252D gamma tubulin ring complex protein (76p gene) (76P) gene, encodes complete protein.
KJ898678 - Synthetic construct Homo sapiens clone ccsbBroadEn_08072 TUBGCP4 gene, encodes complete protein.
BC000966 - Homo sapiens tubulin, gamma complex associated protein 4, mRNA (cDNA clone MGC:4930 IMAGE:3446803), complete cds.
LF348945 - JP 2014500723-A/156448: Polycomb-Associated Non-Coding RNAs.
AK001639 - Homo sapiens cDNA FLJ10777 fis, clone NT2RP4000355.
LF348946 - JP 2014500723-A/156449: Polycomb-Associated Non-Coding RNAs.
CU674482 - Synthetic construct Homo sapiens gateway clone IMAGE:100019020 5' read TUBGCP4 mRNA.
KJ902460 - Synthetic construct Homo sapiens clone ccsbBroadEn_11854 TUBGCP4 gene, encodes complete protein.
AK127306 - Homo sapiens cDNA FLJ45374 fis, clone BRHIP3019643.
DQ578479 - Homo sapiens piRNA piR-46591, complete sequence.
LF348950 - JP 2014500723-A/156453: Polycomb-Associated Non-Coding RNAs.
DQ587773 - Homo sapiens piRNA piR-54885, complete sequence.
LF348952 - JP 2014500723-A/156455: Polycomb-Associated Non-Coding RNAs.
LF348955 - JP 2014500723-A/156458: Polycomb-Associated Non-Coding RNAs.
LF348958 - JP 2014500723-A/156461: Polycomb-Associated Non-Coding RNAs.
MA584521 - JP 2018138019-A/156447: Polycomb-Associated Non-Coding RNAs.
MA584522 - JP 2018138019-A/156448: Polycomb-Associated Non-Coding RNAs.
MA584523 - JP 2018138019-A/156449: Polycomb-Associated Non-Coding RNAs.
MA584527 - JP 2018138019-A/156453: Polycomb-Associated Non-Coding RNAs.
MA584529 - JP 2018138019-A/156455: Polycomb-Associated Non-Coding RNAs.
MA584532 - JP 2018138019-A/156458: Polycomb-Associated Non-Coding RNAs.
MA584535 - JP 2018138019-A/156461: Polycomb-Associated Non-Coding RNAs.
MA441434 - JP 2018138019-A/13360: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UGJ1 (Reactome details) participates in the following event(s):

R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-380316 Association of NuMA with microtubules
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-380287 Centrosome maturation
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: 76P, GCP4, NM_014444, NP_055259, Q9UGJ1-2
UCSC ID: uc001zrn.3
RefSeq Accession: NM_014444
Protein: Q9UGJ1-2, splice isoform of Q9UGJ1 CCDS: CCDS42030.1, CCDS66745.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014444.2
exon count: 18CDS single in 3' UTR: no RNA size: 3087
ORF size: 2001CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4096.00frame shift in genome: no % Coverage: 99.42
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.