Human Gene HAUS3 (uc003ges.1)
  Description: Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.
RefSeq Summary (NM_024511): This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
Transcript (Including UTRs)
   Position: hg19 chr4:2,230,096-2,243,860 Size: 13,765 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr4:2,233,654-2,242,673 Size: 9,020 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:2,230,096-2,243,860)mRNA (may differ from genome)Protein (603 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HAUS3_HUMAN
DESCRIPTION: RecName: Full=HAUS augmin-like complex subunit 3;
FUNCTION: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.
SUBUNIT: Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules.
SIMILARITY: Belongs to the HAUS3 family.
SEQUENCE CAUTION: Sequence=AAB97010.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH03648.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH03648.1; Type=Frameshift; Positions=12; Sequence=AAH25356.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HAUS3
Diseases sorted by gene-association score: hypotrichosis 1 (2), hair disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.63 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 303.27 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.97230-0.261 Picture PostScript Text
3' UTR -1234.913558-0.347 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
  InterPro Domains: Graphical view of domain structure
IPR026206 - HAUS3

Pfam Domains:
PF14932 - HAUS augmin-like complex subunit 3

ModBase Predicted Comparative 3D Structure on Q68CZ6
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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 orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0007049 cell cycle
GO:0007098 centrosome cycle
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0051225 spindle assembly
GO:0051301 cell division
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0015630 microtubule cytoskeleton
GO:0045171 intercellular bridge
GO:0070652 HAUS complex
GO:0072686 mitotic spindle


-  Descriptions from all associated GenBank mRNAs
  AY136549 - Homo sapiens DNA polymerase N mRNA, complete cds.
BC156716 - Synthetic construct Homo sapiens clone IMAGE:100062221, MGC:190208 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
BC156871 - Synthetic construct Homo sapiens clone IMAGE:100062690, MGC:190586 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
BC146297 - Synthetic construct Homo sapiens clone IMAGE:100015195, MGC:180243 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
AB527447 - Synthetic construct DNA, clone: pF1KB7329, Homo sapiens POLN gene for polymerase (DNA directed) nu, without stop codon, in Flexi system.
AK303673 - Homo sapiens cDNA FLJ61029 complete cds, highly similar to DNA polymerase nu (EC 2.7.7.7).
AK293948 - Homo sapiens cDNA FLJ52073 complete cds.
CR749640 - Homo sapiens mRNA; cDNA DKFZp686I1868 (from clone DKFZp686I1868).
JD285593 - Sequence 266617 from Patent EP1572962.
JD400451 - Sequence 381475 from Patent EP1572962.
JD488021 - Sequence 469045 from Patent EP1572962.
BC025356 - Homo sapiens chromosome 4 open reading frame 15, mRNA (cDNA clone MGC:39444 IMAGE:4906369), complete cds.
AF040964 - Homo sapiens unknown protein IT1 mRNA, partial cds.
BC003648 - Homo sapiens chromosome 4 open reading frame 15, mRNA (cDNA clone MGC:4701 IMAGE:3534250), complete cds.
KJ904867 - Synthetic construct Homo sapiens clone ccsbBroadEn_14261 HAUS3 gene, encodes complete protein.
AK056134 - Homo sapiens cDNA FLJ31572 fis, clone NT2RI2001731, weakly similar to INTRACELLULAR PROTEIN TRANSPORT PROTEIN USO1.
CU678556 - Synthetic construct Homo sapiens gateway clone IMAGE:100020281 5' read C4orf15 mRNA.

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

Protein Q68CZ6 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
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: C4orf15, HAUS3_HUMAN, NM_024511, NP_078787, O43606, Q68CZ6, Q8TAZ5, Q9BTJ9
UCSC ID: uc003ges.1
RefSeq Accession: NM_024511
Protein: Q68CZ6 (aka HAUS3_HUMAN)
CCDS: CCDS33941.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024511.5
exon count: 5CDS single in 3' UTR: no RNA size: 5620
ORF size: 1812CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3824.00frame shift in genome: no % Coverage: 99.64
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.