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    HAUS4 HAUS augmin like complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 54930, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HAUS4provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:20163
    See related
    Ensembl:ENSG00000092036 MIM:613431; AllianceGenome:HGNC:20163
    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
    C14orf94
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 23.6), bone marrow (RPKM 22.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAUS4 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22946228..22957090, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17146847..17157707, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23415437..23426299, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903285 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23395171-23396370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8154 Neighboring gene protein arginine methyltransferase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5596 Neighboring gene tRNA-Arg (anticodon ACG) 1-3 Neighboring gene PRMT5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23426503-23427082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23427083-23427661 Neighboring gene microRNA 4707 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23444107-23444607 Neighboring gene Sharpr-MPRA regulatory region 809 Neighboring gene uncharacterized LOC124903287 Neighboring gene ajuba LIM protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23450809-23451774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23451775-23452740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5597 Neighboring gene AJUBA divergent transcript Neighboring gene chromosome 14 open reading frame 93

    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. 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
    2. 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
    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. The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells. Uehara R, et al. Proc Natl Acad Sci U S A, 2009 Apr 28. PMID 19369198, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ20424, FLJ40661

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule minus-end 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 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 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    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 4
    Names
    homologous to Augmin subunits

    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_001166269.2 → NP_001159741.1  HAUS augmin-like complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_001159741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK000431, BC001916
      Consensus CDS
      CCDS9580.1
      UniProtKB/Swiss-Prot
      B7WP17, D3DS34, Q86T15, Q86T16, Q86U43, Q9H6D7, Q9NX59
      Related
      ENSP00000441026.1, ENST00000541587.6
      Conserved Domains (1) summary
      pfam14735
      Location:127 → 360
      HAUS4; HAUS augmin-like complex subunit 4

    2. NM_001166270.2 → NP_001159742.1  HAUS augmin-like complex subunit 4 isoform 2

      See identical proteins and their annotated locations for NP_001159742.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK000431, BX248256
      Consensus CDS
      CCDS53886.1
      UniProtKB/Swiss-Prot
      Q9H6D7
      Related
      ENSP00000342776.8, ENST00000342454.12
      Conserved Domains (1) summary
      pfam14735
      Location:109 → 315
      HAUS4; HAUS augmin-like complex subunit 4

    3. NM_017815.3 → NP_060285.2  HAUS augmin-like complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_060285.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK000431, AL132780
      Consensus CDS
      CCDS9580.1
      UniProtKB/Swiss-Prot
      B7WP17, D3DS34, Q86T15, Q86T16, Q86U43, Q9H6D7, Q9NX59
      Related
      ENSP00000206474.7, ENST00000206474.11
      Conserved Domains (1) summary
      pfam14735
      Location:127 → 360
      HAUS4; HAUS augmin-like complex subunit 4

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22946228..22957090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17146847..17157707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6D7.1 GenPept UniProtKB/Swiss-Prot:Q9H6D7

    Gene LinkOut

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

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