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] See more...

Aliases for HAUS7 Gene

Aliases for HAUS7 Gene

  • HAUS Augmin Like Complex Subunit 7 2 3 5
  • UIP1 2 3 4
  • 26S Proteasome-Associated UCH37-Interacting Protein 1 3 4
  • HAUS Augmin-Like Complex Subunit 7 3 4
  • UCHL5 Interacting Protein 2 3
  • X-Linked Protein STS1769 3 4
  • UCHL5IP 3 4
  • 26S Proteasome-Associated UCH Interacting Protein 1 2
  • UCH37 Interacting Protein 1 2
  • UCHL5-Interacting Protein 4
  • HAUS7 5

External Ids for HAUS7 Gene

Previous HGNC Symbols for HAUS7 Gene

  • UCHL5IP

Previous GeneCards Identifiers for HAUS7 Gene

  • GC0XM152367
  • GC0XM152713
  • GC0XM141372

Summaries for HAUS7 Gene

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. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include thioesterase binding.

UniProtKB/Swiss-Prot Summary for HAUS7 Gene

  • Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.

Additional gene information for HAUS7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAUS7 Gene

Genomics for HAUS7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAUS7 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
GH0XJ153469 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +24.7 24719 3.2 SP1 CREB1 CTCF REST KDM1A JUND PRDM1 MTA2 ZNF143 RBFOX2 TREX2 lnc-PNMA6E-1 HAUS7 LOC105373381
GH0XJ153493 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.8 -0.8 -805 5.4 ZIC2 POLR2A REST ZNF341 NRF1 CTCF CEBPB RAD21 ZNF335 PRDM4 HAUS7 BGN lnc-ATP2B3-2 ZFP92 TREX2 NONHSAG055547.2 ATP2B3
GH0XJ153463 Promoter 0.3 EPDnew 600.3 +32.3 32342 0.1 HAUS7 TREX2 lnc-PNMA6E-1 HSALNG0140758 PNMA6E
GH0XJ153462 Promoter 0.3 EPDnew 600.3 +32.8 32836 0.1 HAUS7 TREX2 lnc-PNMA6E-1 HSALNG0140758 PNMA6E
GH0XJ153456 Promoter 0.3 EPDnew 600.3 +38.9 38926 0.1 HAUS7 HSALNG0140758 lnc-PNMA6E-1 TREX2 PNMA6E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAUS7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAUS7

Top Transcription factor binding sites by QIAGEN in the HAUS7 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • MyoD
  • NF-kappaB1

Genomic Locations for HAUS7 Gene

Genomic Locations for HAUS7 Gene
chrX:153,447,665-153,495,516
(GRCh38/hg38)
Size:
47,852 bases
Orientation:
Minus strand
chrX:152,713,123-152,760,978
(GRCh37/hg19)
Size:
47,856 bases
Orientation:
Minus strand

Genomic View for HAUS7 Gene

Genes around HAUS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAUS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAUS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAUS7 Gene

Proteins for HAUS7 Gene

  • Protein details for HAUS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99871-HAUS7_HUMAN
    Recommended name:
    HAUS augmin-like complex subunit 7
    Protein Accession:
    Q99871
    Secondary Accessions:
    • B4DUH6
    • D3DWT9
    • Q96HS8
    • Q9NP54
    • Q9UFH9

    Protein attributes for HAUS7 Gene

    Size:
    368 amino acids
    Molecular mass:
    40778 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAF75785.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG62338.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA67665.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA67665.1; Type=Miscellaneous discrepancy; Note=Chimera. The N-terminal part of the clone up to position 91 maps to another chromosome.; Evidence={ECO:0000305};

    Alternative splice isoforms for HAUS7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAUS7 Gene

Post-translational modifications for HAUS7 Gene

  • Ubiquitination at Lys46, Lys98, and Lys341
  • Modification sites at PhosphoSitePlus

Other Protein References for HAUS7 Gene

No data available for DME Specific Peptides for HAUS7 Gene

Domains & Families for HAUS7 Gene

Gene Families for HAUS7 Gene

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

Protein Domains for HAUS7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAUS7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55080, moderately similar to 26S proteasome-associated UCH37-interacting protein 1 (B4DJM4_HUMAN)
  • X-linked protein STS1769 (HAUS7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99871

UniProtKB/Swiss-Prot:

HAUS7_HUMAN :
  • Belongs to the HAUS7 family.
Family:
  • Belongs to the HAUS7 family.
genes like me logo Genes that share domains with HAUS7: view

Function for HAUS7 Gene

Molecular function for HAUS7 Gene

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

Phenotypes From GWAS Catalog for HAUS7 Gene

Gene Ontology (GO) - Molecular Function for HAUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0031996 thioesterase binding IPI 11163772
GO:0051011 microtubule minus-end binding IBA 21873635
genes like me logo Genes that share ontologies with HAUS7: view

Phenotypes for HAUS7 Gene

genes like me logo Genes that share phenotypes with HAUS7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAUS7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HAUS7 Gene

Localization for HAUS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAUS7 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269 PubMed:19369198, ECO:0000269 PubMed:19427217}.

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 HAUS7 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (1)
  • Nucleoli (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HAUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAUS7: view

Pathways & Interactions for HAUS7 Gene

genes like me logo Genes that share pathways with HAUS7: view

Gene Ontology (GO) - Biological Process for HAUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007049 cell cycle IEA --
GO:0007098 centrosome cycle IMP 19427217
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0051225 spindle assembly IMP 19369198
genes like me logo Genes that share ontologies with HAUS7: view

No data available for SIGNOR curated interactions for HAUS7 Gene

Drugs & Compounds for HAUS7 Gene

No Compound Related Data Available

Transcripts for HAUS7 Gene

mRNA/cDNA for HAUS7 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 HAUS7

Alternative Splicing Database (ASD) splice patterns (SP) for HAUS7 Gene

No ASD Table

Relevant External Links for HAUS7 Gene

GeneLoc Exon Structure for
HAUS7

Expression for HAUS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAUS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAUS7 Gene

This gene is overexpressed in Artery - Aorta (x5.4) and Artery - Tibial (x4.7).

Protein differential expression in normal tissues from HIPED for HAUS7 Gene

This gene is overexpressed in Bone (39.2) and Pancreas (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HAUS7 Gene



Protein tissue co-expression partners for HAUS7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAUS7

SOURCE GeneReport for Unigene cluster for HAUS7 Gene:

Hs.170835

mRNA Expression by UniProt/SwissProt for HAUS7 Gene:

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

Evidence on tissue expression from TISSUES for HAUS7 Gene

  • Nervous system(4.2)
  • Intestine(4.2)
  • Bone(4)
genes like me logo Genes that share expression patterns with HAUS7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAUS7 Gene

Orthologs for HAUS7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAUS7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HAUS7 30
  • 96.92 (n)
Dog
(Canis familiaris)
Mammalia HAUS7 30 31
  • 81.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAUS7 30
  • 79.3 (n)
UCHL5IP 31
  • 69 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Haus7 30
  • 75.38 (n)
Mouse
(Mus musculus)
Mammalia Haus7 30 17 31
  • 74.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HAUS7 31
  • 42 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 37 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia HAUS7 31
  • 37 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia haus7 30
  • 51.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii haus7 30 31
  • 46.1 (n)
OneToOne
Species where no ortholog for HAUS7 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)
  • Chicken (Gallus gallus)
  • 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)
  • 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 HAUS7 Gene

ENSEMBL:
Gene Tree for HAUS7 (if available)
TreeFam:
Gene Tree for HAUS7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAUS7: view image

Paralogs for HAUS7 Gene

No data available for Paralogs for HAUS7 Gene

Variants for HAUS7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAUS7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
712156 Benign: not provided 153,454,511(-) GGGGAGGGA/G INTRON_VARIANT
714972 Benign: not provided 153,457,217(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
719586 Benign: not provided 153,454,511(-) G/GGGGAGGGAGGGA INTRON_VARIANT
719602 Likely Benign: not provided 153,455,730(-) C/T MISSENSE_VARIANT
722282 Likely Benign: not provided 153,457,220(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HAUS7 Gene

Structural Variations from Database of Genomic Variants (DGV) for HAUS7 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv3575022 CNV loss 25503493
esv3577532 CNV gain 25503493
nsv522600 CNV gain 19592680
nsv526046 CNV gain 19592680

Variation tolerance for HAUS7 Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAUS7 Gene

Human Gene Mutation Database (HGMD)
HAUS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAUS7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAUS7 Gene

Disorders for HAUS7 Gene

No disorders were found for HAUS7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HAUS7 Gene

Publications for HAUS7 Gene

  1. HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. (PMID: 19427217) Lawo S … Pelletier L (Current biology : CB 2009) 2 3 4
  2. Identification of two proteins, S14 and UIP1, that interact with UCH37. (PMID: 11163772) Li T … Teo TS (FEBS letters 2001) 2 3 4
  3. The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells. (PMID: 19369198) Uehara R … Goshima G (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4
  4. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y … Lee B (Human genetics 2006) 2 3
  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

Products for HAUS7 Gene

Sources for HAUS7 Gene