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

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

Summary

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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
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Genomic context

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See HAUS1 in Genome Data Viewer
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

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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. 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

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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

EBI GWAS Catalog

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

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

  • 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

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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)

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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_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.

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