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    HAUS3 HAUS augmin like complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 79441, updated on 14-Nov-2024

    Summary

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    Official Symbol
    HAUS3provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:28719
    See related
    Ensembl:ENSG00000214367 MIM:613430; AllianceGenome:HGNC:28719
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IT1; dgt3; C4orf15
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.8), lymph node (RPKM 8.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAUS3 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2228349..2242121, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2227124..2240896, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2230076..2243848, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2068259-2068872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2071383-2072064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2077922-2078535 Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2094512-2095012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2095013-2095513 Neighboring gene N-acetyltransferase 8 like Neighboring gene DNA polymerase nu Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2127861-2128566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2128567-2129273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2136917-2137418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2137419-2137918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21164 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:2143774-2144295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15156 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:2175172-2176371 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2188158-2188330 Neighboring gene Sharpr-MPRA regulatory region 8787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15157 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2222888-2223812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2243031-2243532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15158 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2258841-2258999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2262363-2262955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264187-2264848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264849-2265508 Neighboring gene CRISPRi-validated cis-regulatory element chr4.319 Neighboring gene microRNA 4800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282283-2282784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282785-2283284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287193-2287694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287695-2288194 Neighboring gene MAX dimerization protein 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2290045-2290567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15163 Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15164 Neighboring gene RNA, 7SL, cytoplasmic 589, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Shah SP, et al. Nature, 2009 Oct 8. PMID 19812674
    2. PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-κB signaling pathway. Zhang Y, et al. Mol Carcinog, 2023 Jul. PMID 37042573
    3. RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-κB activation and ovarian cancer progression. Yu X, et al. Oncogene, 2024 Feb. PMID 38092960
    4. The HAUS Complex Is a Key Regulator of Non-centrosomal Microtubule Organization during Neuronal Development. Cunha-Ferreira I, et al. Cell Rep, 2018 Jul 24. PMID 30044976, Free PMC Article
    5. The microtubule-associated protein EML3 regulates mitotic spindle assembly by recruiting the Augmin complex to spindle microtubules. Luo J, et al. J Biol Chem, 2019 Apr 5. PMID 30723163, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-kappaB activation and ovarian cancer progression.
      Title: RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-κB activation and ovarian cancer progression.
    2. PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-kappaB signaling pathway.
      Title: PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-κB signaling pathway.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4701, DKFZp686I1868

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in microtubule organizing center organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spindle assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of HAUS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of HAUS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HAUS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    HAUS augmin-like complex subunit 3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303143.2 → NP_001290072.1  HAUS augmin-like complex subunit 3

      See identical proteins and their annotated locations for NP_001290072.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL158068, BC003648, BF508642
      Consensus CDS
      CCDS33941.1
      UniProtKB/Swiss-Prot
      B4DF64, O43606, Q68CZ6, Q8TAZ5, Q9BTJ9
      Related
      ENSP00000392903.2, ENST00000443786.3
      Conserved Domains (1) summary
      pfam14932
      Location:29 → 281
      HAUS-augmin3; HAUS augmin-like complex subunit 3

    2. NM_024511.7 → NP_078787.2  HAUS augmin-like complex subunit 3

      See identical proteins and their annotated locations for NP_078787.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF040964, AL158068, BF508642, CR749640
      Consensus CDS
      CCDS33941.1
      UniProtKB/Swiss-Prot
      B4DF64, O43606, Q68CZ6, Q8TAZ5, Q9BTJ9
      Related
      ENSP00000243706.4, ENST00000243706.8
      Conserved Domains (1) summary
      pfam14932
      Location:29 → 281
      HAUS-augmin3; HAUS augmin-like complex subunit 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      2228349..2242121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      2227124..2240896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CZ6.1 GenPept UniProtKB/Swiss-Prot:Q68CZ6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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