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

Gene ID: 54801, updated on 3-Apr-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
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Genomic context

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Location:
9p22.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19053141..19102904, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19066006..19115757, complement)
105.20220307 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. 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
  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. 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
  4. 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
  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 (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Hice1 and hDgt6 are core components of distinct augmin sub-complexes.
    Title: Reconstitution of the augmin complex provides insights into its architecture and function.
  3. 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.
  4. 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.
  5. 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)

Genotypes

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 molecular_function ND
No biological Data available
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_2023_10

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

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