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HAUS7 Gene

protein-coding   GIFtS: 42
GCID: GC0XM152713

HAUS Augmin-Like Complex, Subunit 7

(Previous name: UCHL5 interacting protein)
(Previous symbol: UCHL5IP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HAUS Augmin-Like Complex, Subunit 71 2     X-Linked Protein STS17692 3
UCHL5IP1 2 3 5     26S Proteasome-Associated UCH Interacting Protein 11
UIP12 3 5     UCH37 Interacting Protein 11
UCHL5 Interacting Protein1 2     HAUS Augmin-Like Complex Subunit 72
26S Proteasome-Associated UCH37-Interacting Protein 12 3     UCHL5-Interacting Protein3

External Ids:    HGNC: 329791   Entrez Gene: 555592   Ensembl: ENSG000002133977   OMIM: 3005405   UniProtKB: Q998713   

Export aliases for HAUS7 gene to outside databases

Previous GC identifers: GC0XM152367 GC0XM141372


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HAUS7 Gene:
This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and
is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin
C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep
2012)

GeneCards Summary for HAUS7 Gene:
HAUS7 (HAUS augmin-like complex, subunit 7) is a protein-coding gene. GO annotations related to this gene include thioesterase binding.

UniProtKB/Swiss-Prot: HAUS7_HUMAN, Q99871
Function: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of
cytokinesis as part of the HAUS augmin-like complex




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAUS7 gene promoter:
         GR   GR-beta   MyoD   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAUS7 promoter sequence
   Search Chromatin IP Primers for HAUS7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAUS7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

HAUS7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HAUS7 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM152713:  view genomic region     (about GC identifiers)

Start:
152,713,123 bp from pter      End:
152,760,978 bp from pter
Size:
47,856 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HAUS7_HUMAN, Q99871 (See protein sequence)
Recommended Name: HAUS augmin-like complex subunit 7  
Size: 368 amino acids; 40778 Da
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. Binds UCHL5
Caution: The gene for this protein is either identical to or adjacent to that of TREX2. Most mRNAs that encode
UCHL5IP also include the N-terminal part of TREX2
Caution: It is uncertain whether Met-1 or Met-11 is the initiator
Sequence caution: Sequence=AAF75785.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG62338.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA67665.1;
Type=Frameshift; Positions=258, 260; Sequence=CAA67665.1; Type=Miscellaneous discrepancy; Note=Chimera. The
N-terminal part of the clone up to position 91 maps to another chromosome;
Secondary accessions: B4DUH6 D3DWT9 Q96HS8 Q9NP54 Q9UFH9
Alternative splicing: 3 isoforms:  Q99871-1   Q99871-2   Q99871-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HAUS7: NX_Q99871

Explore proteomics data for HAUS7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys46, Lys98, Lys341
  • Modification sites at PhosphoSitePlus

  • See HAUS7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059988.3  
    ENSEMBL proteins: 
     ENSP00000359230   ENSP00000389431   ENSP00000359229   ENSP00000359231   ENSP00000395447  

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    antibodies-online antibodies for HAUS7 (24 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HAUS: HAUS augmin-like complex subunits

    ProtoNet protein and cluster: Q99871

    UniProtKB/Swiss-Prot: HAUS7_HUMAN, Q99871
    Similarity: Belongs to the HAUS7 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HAUS7_HUMAN, Q99871
    Function: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of
    cytokinesis as part of the HAUS augmin-like complex

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031996thioesterase binding ISS--
         
    Find genes that share ontologies with HAUS7           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAUS7
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HAUS7_HUMAN, Q99871: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton,
    spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    plasma membrane4
    cytosol3
    extracellular2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005819spindle IEA--
    GO:0005874microtubule IEA--

    Find genes that share ontologies with HAUS7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HAUS7
    Interactions:

        GeneGlobe Interaction Network for HAUS7

    Selected Interacting proteins for HAUS7 (Q998712, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 561)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL5Q9Y5K52, 3MINT-7947479 I2D: score=2 
    POLD1P283402, 3MINT-7947479 I2D: score=1 
    ATF4P188483I2D: score=3 
    VAV1P154983I2D: score=2 
    HAUS1Q96CS23I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--
    GO:0051225spindle assembly IMP19369198
    GO:0051297centrosome organization IMP19427217

    Find genes that share ontologies with HAUS7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HAUS7



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HAUS7 gene (3 alternative transcripts): 
    NM_017518.7  NM_207106.2  NM_207107.2  

    Unigene Cluster for HAUS7:

    HAUS augmin-like complex, subunit 7
    Hs.170835  [show with all ESTs]
    Unigene Representative Sequence: NR_073156
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370211 ENST00000460898 ENST00000435662 ENST00000484394 ENST00000437046
    ENST00000491286 ENST00000490165 ENST00000490453 ENST00000464993 ENST00000370210
    ENST00000370212 ENST00000421080(uc004fhp.2)
    miRNA
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    Additional mRNA sequence: 

    AF267739.1 AK125219.1 AK296147.1 BC008141.1 NR_073156.1 

    18 DOTS entries:

    DT.314044  DT.95378430  DT.121287253  DT.95330868  DT.97855555  DT.121287267  DT.65287713  DT.91756294 
    DT.97855561  DT.100791882  DT.121287238  DT.101970817  DT.121287281  DT.86849102  DT.95256097  DT.121287240 
    DT.95142397  DT.97855560 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HAUS7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTCTAGCTA
    HAUS7 Expression
    About this image


    HAUS7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
    HAUS7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAUS7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170835

    UniProtKB/Swiss-Prot: HAUS7_HUMAN, Q99871
    Tissue specificity: Detected in spleen, thymus, testis, ovary, small intestine and colon, with highest levels of
    expression in testis and ovary

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HAUS7 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Haus71 , 5 HAUS augmin-like complex, subunit 71, 5 74.47(n)1
    67.34(a)1
      X (37.32 cM)5
    737381  NM_028633.31  NP_082909.11 
     734373155 
    lizard
    (Anolis carolinensis)
    Reptilia HAUS76
    HAUS augmin-like complex, subunit 7
    37(a)
    1 ↔ 1
    2(87603415-87624203)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia haus71 HAUS augmin-like complex, subunit 7 51.26(n)
    40.88(a)
      100145089  NM_001126608.1  NP_001120080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii haus71 HAUS augmin-like complex, subunit 7 46.1(n)
    35.13(a)
      553483  XM_005162139.1  XP_005162196.1 


    ENSEMBL Gene Tree for HAUS7 (if available)
    TreeFam Gene Tree for HAUS7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HAUS7 (see all 499)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs74731731,2
    C--141421306(-) ACCCCA/GCAGCT 1 -- us2k12Minor allele frequency- G:0.00NA WA 3
    rs354261911,2
    C,F--152580550(-) CTGGGC/TGCTCA 2 -- ds50015Minor allele frequency- T:0.01NS 190
    rs78859991,2
    C,F,H--152580566(+) GAGGAG/CCAGGA 2 -- ds500110Minor allele frequency- C:0.01NS EA CSA 609
    rs1837900391,2
    --152580615(+) GGGCGA/GCTGAG 2 -- ds50010--------
    rs341074391,2
    C,F--152580674(-) GCAGAG/TAACCC 2 -- ds50015Minor allele frequency- T:0.01NS 190
    rs70660441,2
    C,F,A,H--152580892(+) TGTCCA/GAGTCA 2 -- ut31 nc-transcript-variant7Minor allele frequency- G:0.01NS EA NA 708
    rs1878824691,2
    C--152581113(+) TGCAGA/GGGAAA 2 -- int10--------
    rs349980231,2
    C,F--152581145(-) TTACAC/ATCCCA 2 -- int16Minor allele frequency- A:0.04NS CSA 191
    rs358287921,2
    F--152581216(-) GGTCAA/CATGGT 2 -- int15Minor allele frequency- C:0.00NS 188
    rs59871831,2
    C,F,A,H--152581276(+) ctataA/Cagaca 2 -- int14Minor allele frequency- C:0.29NA CSA 7

    HapMap Linkage Disequilibrium report for HAUS7 (152713123 - 152760978 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HAUS7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526046CNV Gain19592680
    esv33199CNV Gain+Loss17666407

    Locus Specific Mutation Databases (LSDB): HAUS7

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300540    OMIM disorders: --


    Find genes that share disorders with HAUS7           About GenesLikeMe


    Export disorders for HAUS7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HAUS7 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with HAUS7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HAUS, the 8-subunit human augmin complex, regulates centrosome and spindle integrity. (PubMed id 19427217)1, 2, 3 Lawo S....Pelletier L. (Curr. Biol. 2009)
    2. Identification of two proteins, S14 and UIP1, that interact with UCH37. (PubMed id 11163772)1, 2, 3 Li T.... Teo T.S. (FEBS Lett. 2001)
    3. The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells. (PubMed id 19369198)1, 2 Uehara R....Goshima G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. Human-specific nonsense mutations identified by genome sequence comparisons. (PubMed id 16395595)1, 3 Hahn Y. and Lee B. (Hum. Genet. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Expressed STSs and transcription of human Xq28. (PubMed id 9099879)1, 2 Esposito T.... D'Esposito M. (Gene 1997)
    7. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55559 HGNC: 32979 Ensembl:ENSG00000213397 euGenes: HUgn55559 ECgene: HAUS7
    H-InvDB: HAUS7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HAUS7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HAUS7 gene:
    Search GeneIP for patents involving HAUS7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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