HAUS4

gene
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Also known as FLJ20424

Summary

HAUS4 (HAUS augmin like complex subunit 4, HGNC:20163) is a protein-coding gene on chromosome 14q11.2, encoding HAUS augmin-like complex subunit 4 (Q9H6D7). Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. It is a common-essential gene (DepMap: required in 98.6% of cancer cell lines).

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.

Source: NCBI Gene 54930 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 49 total
  • Cancer dependency (DepMap): dependent in 98.6% of screened cell lines (common-essential)
  • MANE Select transcript: NM_001166269

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20163
Approved symbolHAUS4
NameHAUS augmin like complex subunit 4
Location14q11.2
Locus typegene with protein product
StatusApproved
AliasesFLJ20424
Ensembl geneENSG00000092036
Ensembl biotypeprotein_coding
OMIM613431
Entrez54930

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 37 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000206474, ENST00000342454, ENST00000347758, ENST00000490506, ENST00000541587, ENST00000553420, ENST00000553794, ENST00000553859, ENST00000554063, ENST00000554349, ENST00000554373, ENST00000554406, ENST00000554446, ENST00000554516, ENST00000554651, ENST00000555040, ENST00000555367, ENST00000555986, ENST00000556421, ENST00000556915, ENST00000557591, ENST00000891766, ENST00000891767, ENST00000891768, ENST00000891769, ENST00000891770, ENST00000891771, ENST00000891772, ENST00000891773, ENST00000891774, ENST00000932954, ENST00000932955, ENST00000932956, ENST00000932957, ENST00000932958, ENST00000932959, ENST00000932960, ENST00000958328, ENST00000958329, ENST00000958330, ENST00000958331, ENST00000958332, ENST00000958333, ENST00000958334, ENST00000958335

RefSeq mRNA: 3 — MANE Select: NM_001166269 NM_001166269, NM_001166270, NM_017815

CCDS: CCDS53886, CCDS9580

Canonical transcript exons

ENST00000541587 — 10 exons

ExonStartEnd
ENSE000019229732294622822946708
ENSE000022048592295691622957090
ENSE000034662912294717122947239
ENSE000035100082295254122952683
ENSE000035123112294786822948013
ENSE000035681362295232822952459
ENSE000035869672295155522951689
ENSE000035917752295510022955176
ENSE000037851342295031422950410
ENSE000037908392294760122947731

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 96.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9554 / max 286.5213, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
14227013.56221790
1422736.62381658
1422712.60001324
1422722.16941129

Top tissues by expression

142 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
bloodUBERON:000017896.27gold quality
left ovaryUBERON:000211995.46gold quality
ovaryUBERON:000099295.18gold quality
body of pancreasUBERON:000115095.06gold quality
right ovaryUBERON:000211894.79gold quality
ventricular zoneUBERON:000305394.32gold quality
leukocyteCL:000073894.03gold quality
monocyteCL:000057694.02gold quality
spleenUBERON:000210693.71gold quality
skin of abdomenUBERON:000141693.69gold quality
granulocyteCL:000009493.64gold quality
lymph nodeUBERON:000002993.60gold quality
endocervixUBERON:000045893.49gold quality
zone of skinUBERON:000001493.37gold quality
minor salivary glandUBERON:000183093.20gold quality
skin of legUBERON:000151193.18gold quality
saliva-secreting glandUBERON:000104493.15gold quality
descending thoracic aortaUBERON:000234593.14gold quality
body of uterusUBERON:000985392.98gold quality
tibial nerveUBERON:000132392.90gold quality
right lungUBERON:000216792.90gold quality
vaginaUBERON:000099692.89gold quality
pancreasUBERON:000126492.76gold quality
right uterine tubeUBERON:000130292.76gold quality
vermiform appendixUBERON:000115492.65gold quality
myometriumUBERON:000129692.55gold quality
ectocervixUBERON:001224992.53gold quality
uterine cervixUBERON:000000292.45gold quality
thoracic mammary glandUBERON:000520092.45gold quality
transverse colonUBERON:000115792.42gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes9.15
E-MTAB-7303no288.96
E-CURD-11no102.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting HAUS4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-6499-3P99.9066.381212
HSA-MIR-3180-5P99.8269.122422
HSA-MIR-1212399.5271.792990
HSA-MIR-616599.4467.121389
HSA-MIR-127699.3668.181642
HSA-MIR-431199.3170.473041
HSA-MIR-892C-5P99.1670.562116
HSA-MIR-6780B-3P99.1367.18622
HSA-MIR-5008-5P98.4265.871019
HSA-MIR-4768-3P98.1666.022330
HSA-MIR-506-5P98.0267.411065
HSA-MIR-33B-3P97.9267.39529
HSA-MIR-519E-3P97.9268.25508
HSA-MIR-66597.6065.641781
HSA-MIR-6730-3P97.0367.54889
HSA-MIR-31-3P95.1769.82575
HSA-MIR-430195.0065.22554

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.6% of screened cell lines, common-essential.

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriohaus4ENSDARG00000016594
mus_musculusHaus4ENSMUSG00000022177
rattus_norvegicusHaus4ENSRNOG00000039284

Protein

Protein identifiers

HAUS augmin-like complex subunit 4Q9H6D7 (reviewed: Q9H6D7)

All UniProt accessions (8): Q9H6D7, G3V2I5, G3V4X7, G3V541, G3V5A5, G3V5Z2, H0YIZ6, H0YJ09

UniProt curated annotations — full annotation on UniProt →

Function. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.

Subunit / interactions. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Interacts with EML3 (phosphorylated at ‘Thr-881’).

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle.

Similarity. Belongs to the HAUS4 family.

Isoforms (4)

UniProt IDNamesCanonical?
Q9H6D7-11yes
Q9H6D7-22
Q9H6D7-33
Q9H6D7-44

RefSeq proteins (3): NP_001159741, NP_001159742, NP_060285 (=MANE)

Domains & families (InterPro)

IDNameType
IPR026214HAUS4_metFamily
IPR029327HAUS4Family

Pfam: PF14735

UniProt features (5 total): splice variant 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7SQKELECTRON MICROSCOPY8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H6D7-F182.170.37

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-2565942Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259Loss of Nlp from mitotic centrosomes
R-HSA-380270Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912Anchoring of the basal body to the plasma membrane
R-HSA-8854518AURKA Activation by TPX2

MSigDB gene sets: 197 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, AFP1_Q6, FISCHER_DREAM_TARGETS, GOBP_SPINDLE_ASSEMBLY

GO Biological Process (4): centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), spindle assembly (GO:0051225), cell division (GO:0051301)

GO Molecular Function (2): microtubule minus-end binding (GO:0051011), protein binding (GO:0005515)

GO Cellular Component (8): centrosome (GO:0005813), cytosol (GO:0005829), HAUS complex (GO:0070652), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
G2/M Transition2
Centrosome maturation2
Loss of proteins required for interphase microtubule organization from the centrosome1
Mitotic Prometaphase1
Assembly of the 9+0 primary cilium1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
microtubule cytoskeleton2
intracellular membraneless organelle2
cell cycle process1
microtubule organizing center organization1
microtubule nucleation1
regulation of microtubule polymerization1
spindle organization1
chromosome segregation1
membraneless organelle assembly1
cellular process1
microtubule binding1
binding1
centriole1
microtubule organizing center1
cytoplasm1
microtubule associated complex1
spindle microtubule1
mitotic spindle1
intracellular anatomical structure1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
HAUS4HAUS6Q7Z4H7902
HAUS4HAUS3Q68CZ6827
HAUS4HAUS1Q96CS2788
HAUS4HAUS7Q99871711
HAUS4HAUS8Q9BT25703
HAUS4TUBG1P23258694
HAUS4NUMA1Q14980693
HAUS4HAUS2Q9NVX0689
HAUS4HAUS5O94927606
HAUS4C9orf40Q8IXQ3506
HAUS4TTC39CQ8N584502
HAUS4GTF3C4Q9UKN8464
HAUS4LYSMD4Q5XG99409
HAUS4C14orf93Q9H972402
HAUS4CDCA4Q9BXL8390

IntAct

106 interactions, top by confidence:

ABTypeScore
HAUS4HAUS1psi-mi:“MI:0407”(direct interaction)0.910
MED4MED19psi-mi:“MI:2364”(proximity)0.900
CEP290CCP110psi-mi:“MI:2364”(proximity)0.890
DMDDTNBpsi-mi:“MI:0914”(association)0.890
HAUS1HAUS6psi-mi:“MI:0915”(physical association)0.810
HAUS1HAUS5psi-mi:“MI:0915”(physical association)0.780
COPRSPRMT5psi-mi:“MI:0914”(association)0.770
TADA3TADA2Apsi-mi:“MI:0914”(association)0.740
HAUS6HAUS5psi-mi:“MI:0914”(association)0.710
HAUS6HAUS4psi-mi:“MI:0915”(physical association)0.710
EFHC1BRAPpsi-mi:“MI:0914”(association)0.660
HAUS4HAUS5psi-mi:“MI:0914”(association)0.640
CCDC120AIPpsi-mi:“MI:0914”(association)0.640
PIK3R2IRS4psi-mi:“MI:0914”(association)0.640
Haus4HAUS5psi-mi:“MI:0915”(physical association)0.560
BMAL2CLOCKpsi-mi:“MI:0914”(association)0.550
HAUS3HAUS5psi-mi:“MI:0914”(association)0.530
CCDC59GAPDHSpsi-mi:“MI:0914”(association)0.530
ZNF223CENPBpsi-mi:“MI:0914”(association)0.530
DMDUTRNpsi-mi:“MI:0914”(association)0.530
COG3TBCCpsi-mi:“MI:0914”(association)0.530
SYCE3RER1psi-mi:“MI:0914”(association)0.530

BioGRID (154): HAUS4 (Affinity Capture-RNA), HAUS4 (Affinity Capture-RNA), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), GGA3 (Co-fractionation), HAUS4 (Synthetic Growth Defect), HAUS4 (Proximity Label-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS4 (Proximity Label-MS), HAUS4 (Proximity Label-MS)

ESM2 similar proteins: A2AKG8, A5A777, A6H754, A7YDW0, A7YY97, A8DZJ1, B5X5N3, F6S215, O00443, O08576, O08662, O60268, P35608, P97357, Q15573, Q17QK1, Q2NL11, Q3B7U2, Q4V847, Q4V8Z3, Q561Q8, Q561X3, Q571H0, Q59EK9, Q5M8Y7, Q5R565, Q5RA87, Q5RAY1, Q5VW36, Q5WNI9, Q5XG48, Q5XIC3, Q61194, Q63603, Q6TNU3, Q751Y8, Q75QN2, Q7L3B6, Q80V86, Q80Y56

Diamond homologs: Q8BFT2, Q9H6D7

SIGNOR signaling

1 interactions.

AEffectBMechanism
HAUS4“form complex”“HAUS complex”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Loss of Nlp from mitotic centrosomes1728.4×2e-18
Loss of proteins required for interphase microtubule organization from the centrosome1728.4×2e-18
AURKA Activation by TPX21727.2×3e-18
Recruitment of mitotic centrosome proteins and complexes1724.3×1e-17
Regulation of PLK1 Activity at G2/M Transition1722.7×4e-17
Anchoring of the basal body to the plasma membrane1922.6×2e-18
Recruitment of NuMA to mitotic centrosomes1822.1×9e-18

GO biological processes:

GO termPartnersFoldFDR
positive regulation of cilium assembly531.9×7e-05
centriole replication530.5×7e-05
spindle assembly829.6×6e-08
centrosome cycle1028.1×7e-10
non-motile cilium assembly614.5×3e-04
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum514.0×2e-03
cilium assembly116.8×8e-05
cell division155.8×1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

49 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance38
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1514 predictions. Top by Δscore:

VariantEffectΔscore
14:22947166:CTCAC:Cdonor_loss1.0000
14:22947167:TCAC:Tdonor_loss1.0000
14:22947167:TCACC:Tdonor_loss1.0000
14:22947168:CACCT:Cdonor_loss1.0000
14:22947169:A:ATdonor_loss1.0000
14:22947170:C:CGdonor_loss1.0000
14:22947170:CC:Cdonor_loss1.0000
14:22947597:TCA:Tdonor_loss1.0000
14:22947598:CA:Cdonor_loss1.0000
14:22947600:CCT:Cdonor_gain1.0000
14:22947605:G:Cdonor_gain1.0000
14:22947629:TG:Tdonor_gain1.0000
14:22947634:T:TAdonor_gain1.0000
14:22947732:CTGAG:Cacceptor_loss1.0000
14:22947733:T:Gacceptor_loss1.0000
14:22947739:C:CTacceptor_gain1.0000
14:22947739:C:Tacceptor_gain1.0000
14:22947739:CAAGA:Cacceptor_gain1.0000
14:22947740:A:Tacceptor_gain1.0000
14:22947743:A:ACacceptor_gain1.0000
14:22947743:A:Cacceptor_gain1.0000
14:22947854:ATGC:Adonor_gain1.0000
14:22947857:C:CAdonor_gain1.0000
14:22950418:C:CTacceptor_gain1.0000
14:22950418:CA:Cacceptor_gain1.0000
14:22950425:G:GCacceptor_gain1.0000
14:22952700:C:CTacceptor_gain1.0000
14:22952702:CAGG:Cacceptor_gain1.0000
14:22952705:G:GCacceptor_gain1.0000
14:22952708:C:CTacceptor_gain1.0000

AlphaMissense

2378 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:22946615:A:CF334L0.976
14:22946615:A:TF334L0.976
14:22946617:A:GF334L0.976
14:22947604:A:GL279P0.960
14:22950361:A:GL172P0.959
14:22947228:A:GL284P0.953
14:22947697:A:GL248P0.944
14:22947637:A:GL268P0.942
14:22952426:A:GW78R0.941
14:22952426:A:TW78R0.941
14:22947719:A:GC241R0.937
14:22951687:A:CF111L0.937
14:22951687:A:TF111L0.937
14:22951689:A:GF111L0.937
14:22947627:C:AK271N0.935
14:22947627:C:GK271N0.935
14:22951676:A:GL115P0.928
14:22946595:T:GY341S0.926
14:22947184:G:CH299D0.923
14:22951664:A:GL119P0.921
14:22952568:G:CS57R0.920
14:22952568:G:TS57R0.920
14:22952570:T:GS57R0.920
14:22947706:A:GL245P0.919
14:22946586:A:GL344P0.918
14:22946616:A:GF334S0.916
14:22947620:C:GA274P0.913
14:22946596:A:CY341D0.911
14:22947606:C:AK278N0.911
14:22947606:C:GK278N0.911

dbSNP variants (sampled 300 via entrez): RS1000066543 (14:22948275 T>A,G), RS1000231326 (14:22958978 T>A,C), RS1000901034 (14:22954685 C>T), RS1001041001 (14:22958732 T>G), RS1001113098 (14:22959009 C>T), RS1001627474 (14:22954063 T>C), RS1001935039 (14:22955456 T>C), RS1001994859 (14:22953898 A>G), RS1002060697 (14:22948521 C>G), RS1002134361 (14:22948680 C>A), RS1002377045 (14:22948382 C>T), RS1002406141 (14:22955292 A>T), RS1002526239 (14:22949997 G>A), RS1002683004 (14:22956688 C>A,G,T), RS1002752997 (14:22949816 TAA>T)

Disease associations

OMIM: gene MIM:613431 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST006135_13Cortical amyloid beta load6.000000e-06
GCST006135_3Cortical amyloid beta load5.000000e-06
GCST006135_4Cortical amyloid beta load4.000000e-07
GCST006135_6Cortical amyloid beta load4.000000e-06
GCST007430_55Peak expiratory flow5.000000e-06
GCST007431_20Lung function (FEV1/FVC)8.000000e-15

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007707cerebral amyloid deposition measurement
EFO:0009718peak expiratory flow
EFO:0004713FEV/FVC ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases expression4
bisphenol Aaffects expression, increases methylation, affects cotreatment, increases expression3
Estradiolaffects cotreatment, increases expression, decreases expression3
Cyclosporineincreases expression, decreases expression3
perfluorooctane sulfonic acidincreases expression2
Benzo(a)pyrenedecreases expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Testosteroneaffects cotreatment, decreases expression2
dicrotophosdecreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
pirinixic aciddecreases expression, increases activity, affects binding1
beta-lapachoneincreases expression1
sodium arsenitedecreases expression1
potassium chromate(VI)decreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
perfluorohexanesulfonic acidincreases expression1
abrinedecreases expression1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amideincreases expression, decreases reaction1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
Norethindrone Acetateaffects cotreatment, increases expression1
Acetaminophendecreases expression1
Atrazineincreases expression1
Vehicle Emissionsdecreases reaction, increases expression1
Caffeineincreases phosphorylation1
Calcitrioldecreases expression, affects cotreatment1
Cisplatinaffects cotreatment, increases expression1
Coumestrolaffects cotreatment, increases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.