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

Gene ID: 54930, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22946228..22957090, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17146847..17157707, complement)
105.20220307 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
  • 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 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
  3. HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. Lawo S, et al. Curr Biol, 2009 May 26. PMID 19427217
  4. 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
  5. Solubility-based genetic screen identifies RING finger protein 126 as an E3 ligase for activation-induced cytidine deaminase. Delker RK, et al. Proc Natl Acad Sci U S A, 2013 Jan 15. PMID 23277564, Free PMC Article

See all (46) 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_2023_10

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

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