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Aliases for HAUS4 Gene

Aliases for HAUS4 Gene

  • HAUS Augmin Like Complex Subunit 4 2 3 5
  • C14orf94 3 4
  • Chromosome 14 Open Reading Frame 94 2
  • HAUS Augmin-Like Complex Subunit 4 3
  • Homologous To Augmin Subunits 3

External Ids for HAUS4 Gene

Previous HGNC Symbols for HAUS4 Gene

  • C14orf94

Previous GeneCards Identifiers for HAUS4 Gene

  • GC14M022486
  • GC14M023415
  • GC14M003533

Summaries for HAUS4 Gene

Entrez Gene Summary for HAUS4 Gene

  • This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]

GeneCards Summary for HAUS4 Gene

HAUS4 (HAUS Augmin Like Complex Subunit 4) is a Protein Coding gene. Diseases associated with HAUS4 include Joubert Syndrome 1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is ENSG00000259132.

UniProtKB/Swiss-Prot for HAUS4 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 HAUS4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAUS4 Gene

Genomics for HAUS4 Gene

Regulatory Elements for HAUS4 Gene

Enhancers for HAUS4 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
GH14H022976 1.9 FANTOM5 ENCODE dbSUPER 75.3 -22.7 -22745 7.6 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ACIN1 NGDN PRMT5 RBM23 C14orf93 HAUS4 MMP14 LOC102724814 PABPN1 SLC22A17
GH14H022927 1.4 ENCODE dbSUPER 53.6 +27.6 27554 3.2 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC MEF2D SSRP1 NGDN HAUS4 PRMT5 ACIN1 SLC7A8 PABPN1 SLC22A17 LOC102724814 BCL2L2-PABPN1 PPP1R3E
GH14H022955 1.1 ENCODE 68 +0.6 557 2.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 HAUS4 ACIN1 C14orf93 C14orf119 RBM23 PRMT5 AJUBA PSMB5 PSMB11 CDH24
GH14H022917 1.3 ENCODE dbSUPER 54.2 +38.1 38059 3.5 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS SP3 HAUS4 RBM23 PRMT5 ACIN1 PRMT5-AS1 HOMEZ
GH14H023005 1.4 ENCODE dbSUPER 40.7 -51.2 -51174 4.9 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC HAUS4 NGDN ACIN1 PRMT5 RBM23 SLC7A8 PRMT5-AS1 THTPA LOC102724814 C14orf93
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAUS4 on UCSC Golden Path with GeneCards custom track

Promoters for HAUS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066667 261 1401 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for HAUS4 Gene

Genomic Locations for HAUS4 Gene
chr14:22,946,228-22,957,161
(GRCh38/hg38)
Size:
10,934 bases
Orientation:
Minus strand
chr14:23,415,437-23,426,370
(GRCh37/hg19)

Genomic View for HAUS4 Gene

Genes around HAUS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAUS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAUS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAUS4 Gene

Proteins for HAUS4 Gene

  • Protein details for HAUS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6D7-HAUS4_HUMAN
    Recommended name:
    HAUS augmin-like complex subunit 4
    Protein Accession:
    Q9H6D7
    Secondary Accessions:
    • B7WP17
    • D3DS34
    • Q86T15
    • Q86T16
    • Q86U43
    • Q9NX59

    Protein attributes for HAUS4 Gene

    Size:
    363 amino acids
    Molecular mass:
    42400 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.
    SequenceCaution:
    • Sequence=CAD62584.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HAUS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAUS4 Gene

Post-translational modifications for HAUS4 Gene

  • Ubiquitination at posLast=201201 and posLast=360360
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HAUS4 Gene

Domains & Families for HAUS4 Gene

Gene Families for HAUS4 Gene

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

Protein Domains for HAUS4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAUS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H6D7

UniProtKB/Swiss-Prot:

HAUS4_HUMAN :
  • Belongs to the HAUS4 family.
Family:
  • Belongs to the HAUS4 family.
genes like me logo Genes that share domains with HAUS4: view

Function for HAUS4 Gene

Molecular function for HAUS4 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 HAUS4 Gene

Gene Ontology (GO) - Molecular Function for HAUS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 20360068
genes like me logo Genes that share ontologies with HAUS4: view
genes like me logo Genes that share phenotypes with HAUS4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HAUS4 Gene

Localization for HAUS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAUS4 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 HAUS4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HAUS4 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 HAUS4: view

Pathways & Interactions for HAUS4 Gene

genes like me logo Genes that share pathways with HAUS4: view

Gene Ontology (GO) - Biological Process for HAUS4 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 HAUS4: view

No data available for SIGNOR curated interactions for HAUS4 Gene

Drugs & Compounds for HAUS4 Gene

No Compound Related Data Available

Transcripts for HAUS4 Gene

Unigene Clusters for HAUS4 Gene

HAUS augmin-like complex, subunit 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAUS4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8: - -
SP9: - -
SP10: - - - - - -
SP11:
SP12: - - - - - -

Relevant External Links for HAUS4 Gene

GeneLoc Exon Structure for
HAUS4
ECgene alternative splicing isoforms for
HAUS4

Expression for HAUS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HAUS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAUS4 Gene

This gene is overexpressed in Whole Blood (x8.0).

Protein differential expression in normal tissues from HIPED for HAUS4 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (57.9) and Breast (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HAUS4 Gene



NURSA nuclear receptor signaling pathways regulating expression of HAUS4 Gene:

HAUS4

SOURCE GeneReport for Unigene cluster for HAUS4 Gene:

Hs.442782

Evidence on tissue expression from TISSUES for HAUS4 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with HAUS4: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAUS4 Gene

Orthologs for HAUS4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAUS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAUS4 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia HAUS4 33
  • 88.61 (n)
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Haus4 33
  • 83.1 (n)
mouse
(Mus musculus)
Mammalia Haus4 33 16 34
  • 81.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 27 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia haus4 33
  • 55.2 (n)
zebrafish
(Danio rerio)
Actinopterygii haus4 33 34
  • 49.14 (n)
Species where no ortholog for HAUS4 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)
  • dog (Canis familiaris)
  • 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 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 HAUS4 Gene

ENSEMBL:
Gene Tree for HAUS4 (if available)
TreeFam:
Gene Tree for HAUS4 (if available)

Paralogs for HAUS4 Gene

Paralogs for HAUS4 Gene

Pseudogenes.org Pseudogenes for HAUS4 Gene

genes like me logo Genes that share paralogs with HAUS4: view

Variants for HAUS4 Gene

Sequence variations from dbSNP and Humsavar for HAUS4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000066543 -- 22,948,275(+) GAGAC(G/T)CTGTC intron-variant
rs1000231326 -- 22,958,978(+) AAAAA(C/T)TAAAA upstream-variant-2KB
rs1000901034 -- 22,954,685(+) AGAAA(C/T)ACATG intron-variant, nc-transcript-variant
rs1001041001 -- 22,958,732(+) TGTAA(G/T)CCCAG upstream-variant-2KB
rs1001113098 -- 22,959,009(+) GGGTG(C/T)AGTGG upstream-variant-2KB

Variation tolerance for HAUS4 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAUS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAUS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HAUS4 Gene

Disorders for HAUS4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAUS4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HAUS4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAUS4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAUS4
genes like me logo Genes that share disorders with HAUS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAUS4 Gene

Publications for HAUS4 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 60
  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 (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for HAUS4 Gene

Sources for HAUS4 Gene

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