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

Gene ID: 79441, updated on 5-Mar-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
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Genomic context

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Location:
4p16.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2228349..2242121, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2227124..2240896, complement)
105.20220307 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
  • 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. 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
  4. HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. Lawo S, et al. Curr Biol, 2009 May 26. PMID 19427217
  5. Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle. Goshima G, et al. J Cell Biol, 2008 May 5. PMID 18443220, Free PMC Article

See all (40) 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)

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

  • MGC4701, DKFZp686I1868

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
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 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 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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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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_2023_10

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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