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    HAUS6 HAUS augmin like complex subunit 6 [ Homo sapiens (human) ]

    Gene ID: 54801, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HAUS6provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 6provided by HGNC
    Primary source
    HGNC:HGNC:25948
    See related
    Ensembl:ENSG00000147874 MIM:613433; AllianceGenome:HGNC:25948
    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
    Dgt6; FAM29A
    Summary
    The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
    Expression
    Broad expression in testis (RPKM 9.5), lymph node (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAUS6 in Genome Data Viewer
    Location:
    9p22.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19053141..19102904, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19066006..19115757, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19053139..19102902, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene stabilizer of axonemal microtubules 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19032529-19033082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19033083-19033636 Neighboring gene proteasome 26S subunit, ATPase 3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19049365-19049886 Neighboring gene Ras related GTP binding A Neighboring gene small Cajal body-specific RNA 8 Neighboring gene RNA, U6 small nuclear 264, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19102581-19103144 Neighboring gene Sharpr-MPRA regulatory region 12241 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19126736-19127246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19127247-19127756 Neighboring gene perilipin 2 Neighboring gene CRISPRi-validated cis-regulatory element chr9.246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19186502-19187002 Neighboring gene ribosomal protein S6 pseudogene 10

    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
    • 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. Bioinformatics analysis and validation of HAUS6 as a key prognostic gene in squamous cell carcinoma of the tongue. Yao Z, et al. Arch Oral Biol, 2024 Aug. PMID 38759391
    2. A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. Png E, et al. BMC Med Genet, 2012 Jan 13. PMID 22239941, Free PMC Article
    3. Augmin accumulation on long-lived microtubules drives amplification and kinetochore-directed growth. David AF, et al. J Cell Biol, 2019 Jul 1. PMID 31113824, Free PMC Article
    4. FAM29A promotes microtubule amplification via recruitment of the NEDD1-gamma-tubulin complex to the mitotic spindle. Zhu H, et al. J Cell Biol, 2008 Dec 1. PMID 19029337, Free PMC Article
    5. Reconstitution of the augmin complex provides insights into its architecture and function. Hsia KC, et al. Nat Cell Biol, 2014 Sep. PMID 25173975, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bioinformatics analysis and validation of HAUS6 as a key prognostic gene in squamous cell carcinoma of the tongue.
      Title: Bioinformatics analysis and validation of HAUS6 as a key prognostic gene in squamous cell carcinoma of the tongue.
    2. Our work shows that noncentrosomal microtubules nucleation is the predominant source of spindle microtubules also in human somatic cells. Importantly, our analysis of HAUS6-depleted cells shows that the Augmin complex is responsible for this activity.
      Title: Augmin accumulation on long-lived microtubules drives amplification and kinetochore-directed growth.
    3. Hice1 and hDgt6 are core components of distinct augmin sub-complexes.
      Title: Reconstitution of the augmin complex provides insights into its architecture and function.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. FAM29A promotes microtubule amplification via recruitment of the NEDD1-gamma-tubulin complex to the mitotic spindle.
      Title: FAM29A promotes microtubule amplification via recruitment of the NEDD1-gamma-tubulin complex to the mitotic spindle.
    6. Results suggest that an important mitotic function for gamma-tubulin may lie within the spindle, where augmin (Dgt2-6; FAM29A) and gamma-tubulin function cooperatively to amplify the number of microtubules.
      Title: Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • MGC102696, MGC138798, MGC138799

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 cytoskeleton 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 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 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 mitotic spindle microtubule 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 6
    Names
    dim gamma-tubulin homolog
    family with sequence similarity 29, member A

    NCBI Reference Sequences (RefSeq)

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    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_001270890.2 → NP_001257819.1  HAUS augmin-like complex subunit 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AF537091, AK301852, AL356000
      UniProtKB/TrEMBL
      Q5VY60
      Conserved Domains (1) summary
      pfam14661
      Location:15 → 239
      HAUS6_N; HAUS augmin-like complex subunit 6 N-terminus

    2. NM_017645.5 → NP_060115.3  HAUS augmin-like complex subunit 6 isoform 1

      See identical proteins and their annotated locations for NP_060115.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF537091, AL356000, BC114492
      Consensus CDS
      CCDS6489.1
      UniProtKB/Swiss-Prot
      B3KPK4, B4DX82, Q05CG1, Q14CB6, Q14CD9, Q2TA91, Q6IQ10, Q6NZX5, Q7Z4H7, Q8IZQ4, Q96FN0, Q9H950, Q9H998, Q9HCJ8, Q9NXT8
      UniProtKB/TrEMBL
      Q5VY60
      Related
      ENSP00000369871.3, ENST00000380502.8
      Conserved Domains (1) summary
      pfam14661
      Location:15 → 239
      HAUS6_N; HAUS augmin-like complex subunit 6 N-terminus

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      19053141..19102904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423518.1 → XP_047279474.1  HAUS augmin-like complex subunit 6 isoform X2

      Related
      ENSP00000369865.1, ENST00000380496.5

    2. XM_011517935.3 → XP_011516237.1  HAUS augmin-like complex subunit 6 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      19066006..19115757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363132.1 → XP_054219107.1  HAUS augmin-like complex subunit 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4H7.2 GenPept UniProtKB/Swiss-Prot:Q7Z4H7

    Gene LinkOut

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

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