U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    HAUS1 HAUS augmin like complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 115106, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    HAUS1provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:25174
    See related
    Ensembl:ENSG00000152240 MIM:608775; AllianceGenome:HGNC:25174
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEIC; CCDC5; HEI-C; HsT1461
    Summary
    HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 14.6), bone marrow (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    18q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46104385..46128333)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46295346..46319264)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43684351..43708299)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43677662-43678861 Neighboring gene tRNA-Lys (CTT) 6-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9419 Neighboring gene RNY4 pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13271 Neighboring gene ATP synthase F1 subunit alpha Neighboring gene RNA, U6 small nuclear 1278, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr18:43735851-43736057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43744621-43745122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43745123-43745622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43747273-43748134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13276 Neighboring gene arkadia (RNF111) N-terminal like PKA signaling regulator 2N Neighboring gene MPRA-validated peak3131 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43829497-43830133 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43830134-43830769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839023-43839587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839588-43840151 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:43841527-43842028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43874443-43874944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43891455-43892088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43912812-43913423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43913424-43914034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13279 Neighboring gene arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43953278-43953778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43967128-43967628 Neighboring gene uncharacterized LOC105372095

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Human enhancer of invasion-cluster, a coiled-coil protein required for passage through mitosis. Einarson MB, et al. Mol Cell Biol, 2004 May. PMID 15082789, Free PMC Article
    2. 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
    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 (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ21094, FLJ40084

    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 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    HAUS augmin-like complex subunit 1
    Names
    coiled-coil domain containing 5 (spindle associated)
    coiled-coil domain-containing protein 5
    enhancer of invasion-cluster

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_138443.4 → NP_612452.1  HAUS augmin-like complex subunit 1

      See identical proteins and their annotated locations for NP_612452.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and is protein-coding.
      Source sequence(s)
      BC014003
      Consensus CDS
      CCDS11928.1
      UniProtKB/Swiss-Prot
      B2RDM7, Q8N837, Q96CS2
      Related
      ENSP00000282058.5, ENST00000282058.11
      Conserved Domains (1) summary
      COG1196
      Location:119 → 271
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. NR_026978.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY360137, BC005958, BC014003
      Related
      ENST00000591715.5

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      46104385..46128333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      46295346..46319264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CS2.1 GenPept UniProtKB/Swiss-Prot:Q96CS2

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous