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Aliases for HAUS1 Gene

Aliases for HAUS1 Gene

  • HAUS Augmin Like Complex Subunit 1 2 3 5
  • Coiled-Coil Domain Containing 5 (Spindle Associated) 2 3
  • Coiled-Coil Domain-Containing Protein 5 3 4
  • Enhancer Of Invasion-Cluster 3 4
  • CCDC5 3 4
  • HEI-C 3 4
  • HEIC 3 4
  • HAUS Augmin-Like Complex Subunit 1 3
  • HsT1461 3

External Ids for HAUS1 Gene

Previous HGNC Symbols for HAUS1 Gene

  • CCDC5

Previous GeneCards Identifiers for HAUS1 Gene

  • GC18P041940
  • GC18P043684
  • GC18P040541

Summaries for HAUS1 Gene

Entrez Gene Summary for HAUS1 Gene

  • HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

GeneCards Summary for HAUS1 Gene

HAUS1 (HAUS Augmin Like Complex Subunit 1) is a Protein Coding gene. Diseases associated with HAUS1 include Miller-Dieker Lissencephaly Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot for HAUS1 Gene

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

Gene Wiki entry for HAUS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAUS1 Gene

Genomics for HAUS1 Gene

Regulatory Elements for HAUS1 Gene

Enhancers for HAUS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F045782 1.3 FANTOM5 Ensembl ENCODE 53.6 -320.8 -320825 2.4 ZFP64 TEAD4 ZNF140 ZNF266 ZNF101 ZNF791 ZNF138 ZNF433 ZNF202 ZNF680 HAUS1 EPG5 SIGLEC15 SLC14A1 LOC105372093 ENSG00000267558
GH18F046096 1 ENCODE 39.5 -6.5 -6485 2.9 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 HAUS1 ATP5A1 RNY4P37 PSTPIP2 RN7SKP26 EPG5 GC18P046096
GH18F046103 1 ENCODE 37.5 +0.2 243 1.7 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 ZNF121 HAUS1 ATP5A1 GC18M046122 RNU6-1278P
GH18F046172 1.1 ENCODE 24.9 +69.9 69926 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 HAUS1 EPG5 C18orf25 GC18P046277
GH18F046039 1 Ensembl ENCODE 26.7 -62.8 -62759 4.5 CTCF TAL1 RAD21 ZNF316 POLR2A NCOR1 GATA2 SMC3 NFE2 RFX1 HAUS1 PSTPIP2 RNY4P37 ATP5A1 LOC100422497
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAUS1 on UCSC Golden Path with GeneCards custom track

Promoters for HAUS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001351 369 1799 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 ZNF121 GLIS2 ZNF143

Genomic Location for HAUS1 Gene

Chromosome:
18
Start:
46,104,332 bp from pter
End:
46,128,333 bp from pter
Size:
24,002 bases
Orientation:
Plus strand

Genomic View for HAUS1 Gene

Genes around HAUS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAUS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAUS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAUS1 Gene

Proteins for HAUS1 Gene

  • Protein details for HAUS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CS2-HAUS1_HUMAN
    Recommended name:
    HAUS augmin-like complex subunit 1
    Protein Accession:
    Q96CS2
    Secondary Accessions:
    • B2RDM7
    • Q8N837

    Protein attributes for HAUS1 Gene

    Size:
    278 amino acids
    Molecular mass:
    31863 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. Associates with microtubules. The interaction with microtubules is strong during mitosis, while it is weak or absent during interphase. It is unclear whether this interaction is direct or indirect.
    Miscellaneous:
    • HAUS1-depleted cells retain functional cell cycle checkpoints, but the depletion decreases the G2/M cell cycle compartment and induces apoptosis. The protein level remains constant through the cell cycle.
    SequenceCaution:
    • Sequence=BAC05036.1; Type=Frameshift; Positions=15; Evidence={ECO:0000305};

    Alternative splice isoforms for HAUS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAUS1 Gene

Post-translational modifications for HAUS1 Gene

  • Ubiquitination at Lys 17, Lys 197, Lys 223, and Lys 237
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HAUS1 Gene

Domains & Families for HAUS1 Gene

Gene Families for HAUS1 Gene

Protein Domains for HAUS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAUS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CS2

UniProtKB/Swiss-Prot:

HAUS1_HUMAN :
  • Belongs to the HAUS1 family.
Family:
  • Belongs to the HAUS1 family.
genes like me logo Genes that share domains with HAUS1: view

Function for HAUS1 Gene

Molecular function for HAUS1 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.

Gene Ontology (GO) - Molecular Function for HAUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with HAUS1: view
genes like me logo Genes that share phenotypes with HAUS1: view

Animal Model Products

miRNA for HAUS1 Gene

miRTarBase miRNAs that target HAUS1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAUS1 Gene

Localization for HAUS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAUS1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes with the spindle poles in mitotic cells. In metaphase, localizes to the mitotic asters and is highly punctate on the microtubule array. During later stages of mitosis, remains on the spindle but is not present at the interzone, and is finally observed at the microtubule bundles proximal to the midbody, clearly excluded from the midbody. In contrast, does not colocalize with the tubulin cytoskeleton in interphase cells. In interphase, localized at the centrosome and diffusely in the cytoplasm. {ECO:0000269 PubMed:15082789}.

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 HAUS1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HAUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with HAUS1: view

Pathways & Interactions for HAUS1 Gene

genes like me logo Genes that share pathways with HAUS1: view

Gene Ontology (GO) - Biological Process for HAUS1 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:0007067 mitotic nuclear division IEA --
GO:0051225 spindle assembly IEA,IMP 19369198
GO:0051297 centrosome organization IMP 19427217
genes like me logo Genes that share ontologies with HAUS1: view

No data available for SIGNOR curated interactions for HAUS1 Gene

Transcripts for HAUS1 Gene

Unigene Clusters for HAUS1 Gene

HAUS augmin-like complex, subunit 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAUS1 Gene

No ASD Table

Relevant External Links for HAUS1 Gene

GeneLoc Exon Structure for
HAUS1
ECgene alternative splicing isoforms for
HAUS1

Expression for HAUS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAUS1 Gene

Protein differential expression in normal tissues from HIPED for HAUS1 Gene

This gene is overexpressed in Bone (45.1), Cervix (11.9), and Breast (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HAUS1 Gene



Protein tissue co-expression partners for HAUS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HAUS1 Gene:

HAUS1

SOURCE GeneReport for Unigene cluster for HAUS1 Gene:

Hs.436617

mRNA Expression by UniProt/SwissProt for HAUS1 Gene:

Q96CS2-HAUS1_HUMAN
Tissue specificity: Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver and heart. Weakly expressed in lung, brain and placenta.
genes like me logo Genes that share expression patterns with HAUS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HAUS1 Gene

Orthologs for HAUS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAUS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAUS1 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia HAUS1 34 35
  • 90.17 (n)
cow
(Bos Taurus)
Mammalia HAUS1 34 35
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912125 34
  • 84.17 (n)
mouse
(Mus musculus)
Mammalia Haus1 34 16 35
  • 83.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HAUS1 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAUS1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAUS1 34 35
  • 61.92 (n)
lizard
(Anolis carolinensis)
Reptilia HAUS1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia haus1 34
  • 59.98 (n)
zebrafish
(Danio rerio)
Actinopterygii haus1 34 35
  • 51.78 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4754 34
Species where no ortholog for HAUS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 HAUS1 Gene

ENSEMBL:
Gene Tree for HAUS1 (if available)
TreeFam:
Gene Tree for HAUS1 (if available)

Paralogs for HAUS1 Gene

Pseudogenes.org Pseudogenes for HAUS1 Gene

genes like me logo Genes that share paralogs with HAUS1: view

No data available for Paralogs for HAUS1 Gene

Variants for HAUS1 Gene

Sequence variations from dbSNP and Humsavar for HAUS1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs10468981 -- 46,110,463(+) cctca(A/G)attcc intron-variant
rs10468982 -- 46,110,527(+) tagta(A/G)aggca intron-variant
rs10532354 -- 46,119,339(+) TTCAG(-/CAG)ATAAC intron-variant
rs111367234 -- 46,116,561(+) GTCCC(A/C)AAAAA intron-variant
rs111392424 -- 46,123,586(+) AACTC(C/T)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HAUS1 Gene

Variant ID Type Subtype PubMed ID
esv3642428 CNV loss 21293372
esv3642427 CNV loss 21293372
esv3642426 CNV loss 21293372
esv3642424 CNV gain 21293372
esv3642420 CNV gain 21293372
esv3555316 CNV deletion 23714750
esv2668326 CNV deletion 23128226
esv1334297 CNV insertion 17803354
dgv595e199 CNV deletion 23128226

Variation tolerance for HAUS1 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAUS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAUS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAUS1 Gene

Disorders for HAUS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAUS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
miller-dieker lissencephaly syndrome
  • mds
- elite association - COSMIC cancer census association via MalaCards
Search HAUS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAUS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAUS1
genes like me logo Genes that share disorders with HAUS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAUS1 Gene

Publications for HAUS1 Gene

  1. HAUS, the 8-subunit human augmin complex, regulates centrosome and spindle integrity. (PMID: 19427217) Lawo S. … Pelletier L. (Curr. Biol. 2009) 2 3 4 64
  2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human enhancer of invasion-cluster, a coiled-coil protein required for passage through mitosis. (PMID: 15082789) Einarson M.B. … Golemis E.A. (Mol. Cell. Biol. 2004) 3 4 64

Products for HAUS1 Gene

Sources for HAUS1 Gene

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