HAUS7

Summary

HAUS7 (HAUS augmin like complex subunit 7, HGNC:32979) is a protein-coding gene on chromosome Xq28, encoding HAUS augmin-like complex subunit 7 (Q99871). 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 98.3% of cancer cell lines).

This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55559 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 163 total
• Cancer dependency (DepMap): dependent in 98.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_001385482

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32979
Approved symbol	HAUS7
Name	HAUS augmin like complex subunit 7
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	UIP1
Ensembl gene	ENSG00000213397
Ensembl biotype	protein_coding
OMIM	300540
Entrez	55559

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 7 protein_coding_CDS_not_defined

ENST00000370210, ENST00000370211, ENST00000435662, ENST00000437046, ENST00000460898, ENST00000464993, ENST00000484394, ENST00000490165, ENST00000490453, ENST00000491286, ENST00000883494, ENST00000883495, ENST00000938287, ENST00000938288

RefSeq mRNA: 3 — MANE Select: NM_001385482 NM_001385481, NM_001385482, NM_001385483

CCDS: CCDS35438

Canonical transcript exons

ENST00000370211 — 10 exons

Exon	Start	End
ENSE00001452099	153447668	153447909
ENSE00001452115	153470450	153470576
ENSE00003467268	153456493	153456651
ENSE00003483626	153469146	153469261
ENSE00003512167	153457137	153457228
ENSE00003619701	153456265	153456364
ENSE00003621000	153462610	153462671
ENSE00003641405	153454394	153454508
ENSE00003683692	153464988	153465055
ENSE00003690617	153455542	153455766

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.36.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8930 / max 28.7072, expressed in 364 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200869	8.3708	1720
200873	0.5365	267
200872	0.3565	188

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ascending aorta	UBERON:0001496	97.36	gold quality
thoracic aorta	UBERON:0001515	97.28	gold quality
descending thoracic aorta	UBERON:0002345	96.63	gold quality
popliteal artery	UBERON:0002250	96.45	gold quality
tibial artery	UBERON:0007610	96.45	gold quality
right coronary artery	UBERON:0001625	96.08	gold quality
left coronary artery	UBERON:0001626	95.07	gold quality
anterior cingulate cortex	UBERON:0009835	94.10	gold quality
Ammon’s horn	UBERON:0001954	94.06	gold quality
right frontal lobe	UBERON:0002810	93.04	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.79	gold quality
amygdala	UBERON:0001876	92.66	gold quality
temporal lobe	UBERON:0001871	92.62	gold quality
caudate nucleus	UBERON:0001873	92.60	gold quality
putamen	UBERON:0001874	92.45	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.36	gold quality
cerebral cortex	UBERON:0000956	92.15	gold quality
left uterine tube	UBERON:0001303	92.08	gold quality
spleen	UBERON:0002106	91.87	gold quality
endocervix	UBERON:0000458	91.61	gold quality
apex of heart	UBERON:0002098	91.43	gold quality
ectocervix	UBERON:0012249	91.38	gold quality
skin of abdomen	UBERON:0001416	91.32	gold quality
tibial nerve	UBERON:0001323	90.89	gold quality
cortex of kidney	UBERON:0001225	90.85	gold quality
frontal cortex	UBERON:0001870	90.85	gold quality
metanephros cortex	UBERON:0010533	90.79	gold quality
left lobe of thyroid gland	UBERON:0001120	90.58	gold quality
gall bladder	UBERON:0002110	90.45	gold quality
primary visual cortex	UBERON:0002436	90.37	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76
E-CURD-112	no	3.69

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF

miRNA regulators (miRDB)

7 targeting HAUS7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-4529-5P	96.74	65.77	569

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• Discusses transcript evidence for TREX1 and TREX2, as well as readthrough transcripts with upstream loci ATRIP and HAUS7. (PMID:11278605)
• HAUS7 mutation may be associated with chromosome misalignment, resulting in severe oligozoospermia. (PMID:29017965)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	haus7	ENSDARG00000037432
mus_musculus	Haus7	ENSMUSG00000031371
rattus_norvegicus	Haus7	ENSRNOG00000055648

Protein

Protein identifiers

HAUS augmin-like complex subunit 7 — Q99871 (reviewed: Q99871)

Alternative names: 26S proteasome-associated UCH37-interacting protein 1, UCHL5-interacting protein, X-linked protein STS1769

All UniProt accessions (3): A6NDA1, Q99871, H7BZF8

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 UCHL5. Interacts with EML3 (phosphorylated at ‘Thr-881’).

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

Tissue specificity. Detected in spleen, thymus, testis, ovary, small intestine and colon, with highest levels of expression in testis and ovary.

Similarity. Belongs to the HAUS7 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q99871-1	1	yes
Q99871-2	2
Q99871-3	3

RefSeq proteins (3): NP_001372410, NP_001372411, NP_001372412 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029711	Haus7-like	Family

UniProt features (8 total): splice variant 3, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7SQK	ELECTRON MICROSCOPY	8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99871-F1	78.59	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 16

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

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

MSigDB gene sets: 120 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, FISCHER_DREAM_TARGETS, GOBP_SPINDLE_ASSEMBLY, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_MICROTUBULE_POLYMERIZATION

GO Biological Process (5): centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), microtubule organizing center organization (GO:0031023), spindle assembly (GO:0051225), cell division (GO:0051301)

GO Molecular Function (3): thioesterase binding (GO:0031996), microtubule minus-end binding (GO:0051011), protein binding (GO:0005515)

GO Cellular Component (13): nucleolus (GO:0005730), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), HAUS complex (GO:0070652), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), 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:

Category	Pathways
G2/M Transition	2
Centrosome maturation	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	3
microtubule organizing center	2
sperm flagellum	2
microtubule cytoskeleton	2
cell cycle process	1
microtubule organizing center organization	1
microtubule nucleation	1
regulation of microtubule polymerization	1
microtubule cytoskeleton organization	1
microtubule-based process	1
cellular component organization	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
cellular process	1
enzyme binding	1
microtubule binding	1
binding	1
nuclear lumen	1
centriole	1
cytoplasm	1
membrane	1
cell periphery	1
cilium	1
microtubule associated complex	1
spindle microtubule	1
mitotic spindle	1
intracellular anatomical structure	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HAUS7	HAUS6	Q7Z4H7	934
HAUS7	HAUS2	Q9NVX0	848
HAUS7	PSMD8	P48556	830
HAUS7	HAUS1	Q96CS2	810
HAUS7	UCHL5	Q9Y5K5	808
HAUS7	HAUS3	Q68CZ6	781
HAUS7	HAUS5	O94927	771
HAUS7	HAUS8	Q9BT25	758
HAUS7	HAUS4	Q9H6D7	711
HAUS7	TUBG1	P23258	639
HAUS7	NUMA1	Q14980	639
HAUS7	TEX28	O15482	510
HAUS7	ZNF784	Q8NCA9	496
HAUS7	MTMR1	Q13613	469
HAUS7	PNCK	Q6P2M8	463

IntAct

154 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
HAUS2	HAUS6	psi-mi:“MI:0915”(physical association)	0.880
HAUS1	HAUS6	psi-mi:“MI:0915”(physical association)	0.810
HAUS1	HAUS5	psi-mi:“MI:0915”(physical association)	0.780
HAUS1	HAUS5	psi-mi:“MI:0914”(association)	0.780
HAUS6	HAUS7	psi-mi:“MI:0915”(physical association)	0.770
HAUS2	HAUS5	psi-mi:“MI:0914”(association)	0.730
HAUS6	HAUS5	psi-mi:“MI:0914”(association)	0.710
HAUS4	HAUS5	psi-mi:“MI:0914”(association)	0.640
ARFIP1	ARL1	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
Haus4	HAUS5	psi-mi:“MI:0914”(association)	0.560
DPPA3	HAUS7	psi-mi:“MI:0915”(physical association)	0.560
Haus4	HAUS5	psi-mi:“MI:0915”(physical association)	0.560
NDUFS1	HAUS7	psi-mi:“MI:0915”(physical association)	0.560
HAUS7	PRPH	psi-mi:“MI:0915”(physical association)	0.560
KLF11	HAUS7	psi-mi:“MI:0915”(physical association)	0.560
HAUS7	NUP58	psi-mi:“MI:0915”(physical association)	0.560
DNAJB6	HAUS7	psi-mi:“MI:0915”(physical association)	0.560
HAUS7	HTRA2	psi-mi:“MI:0915”(physical association)	0.560
HAUS7	PANK2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (208): HAUS7 (Affinity Capture-MS), HAUS7 (Affinity Capture-MS), HAUS1 (Affinity Capture-MS), ASPM (Affinity Capture-MS), SPDL1 (Affinity Capture-MS), HAUS4 (Affinity Capture-MS), HAUS3 (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), HAUS5 (Affinity Capture-MS), GLCE (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), FKRP (Affinity Capture-MS), CETN3 (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0JMF7, A2RTY3, A4D1B5, D3Z2X2, E9Q8T7, O70173, O88480, Q0VG85, Q1T769, Q3TCV3, Q3U1D0, Q3UHA3, Q3ULW6, Q3UPC7, Q4R744, Q571B6, Q5QNV8, Q5SW28, Q5T4T6, Q5T5N4, Q5XHZ2, Q5XI03, Q63164, Q6P2D8, Q6P4T1, Q7Z2Y8, Q7Z2Z1, Q86UK5, Q86WZ0, Q8BMG1, Q8BQ33, Q8CCC3, Q8CE13, Q8IV33, Q8IXR5, Q8ND61, Q8NG48, Q8TF30, Q920I9

Diamond homologs: Q8BKT8, Q99871

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HAUS7	“form complex”	“HAUS complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 138 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:

Pathway	Partners	Fold	FDR
Loss of Nlp from mitotic centrosomes	18	35.2×	1e-21
Loss of proteins required for interphase microtubule organization from the centrosome	18	35.2×	1e-21
AURKA Activation by TPX2	18	33.8×	2e-21
Recruitment of mitotic centrosome proteins and complexes	18	30.2×	2e-20
Anchoring of the basal body to the plasma membrane	21	29.3×	3e-23
Regulation of PLK1 Activity at G2/M Transition	18	28.2×	5e-20
Recruitment of NuMA to mitotic centrosomes	18	25.9×	2e-19

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	6	36.9×	2e-06
spindle assembly	8	29.8×	4e-08
centrosome cycle	10	28.3×	6e-10
non-motile cilium assembly	6	14.7×	2e-04
cilium assembly	11	6.8×	6e-05
cell division	14	5.4×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	18
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1717 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153454389:CGTA:C	donor_loss	1.0000
X:153454390:GTACC:G	donor_loss	1.0000
X:153454391:TACCT:T	donor_loss	1.0000
X:153454392:A:AC	donor_gain	1.0000
X:153454392:A:AT	donor_loss	1.0000
X:153454393:C:CC	donor_gain	1.0000
X:153454393:C:CG	donor_loss	1.0000
X:153454509:C:CC	acceptor_gain	1.0000
X:153455536:CCTTA:C	donor_loss	1.0000
X:153455537:CTTA:C	donor_loss	1.0000
X:153455538:TTACT:T	donor_loss	1.0000
X:153455539:TA:T	donor_loss	1.0000
X:153455540:A:AC	donor_gain	1.0000
X:153455541:C:CA	donor_gain	1.0000
X:153455541:CT:C	donor_gain	1.0000
X:153455541:CTTGG:C	donor_gain	1.0000
X:153455763:AGTA:A	acceptor_gain	1.0000
X:153455765:TA:T	acceptor_gain	1.0000
X:153455767:C:CC	acceptor_gain	1.0000
X:153456259:CCTCA:C	donor_loss	1.0000
X:153456260:CTCA:C	donor_loss	1.0000
X:153456263:A:AC	donor_gain	1.0000
X:153456263:ACCT:A	donor_gain	1.0000
X:153456264:C:CC	donor_gain	1.0000
X:153456264:C:CG	donor_loss	1.0000
X:153456264:CCT:C	donor_gain	1.0000
X:153456264:CCTC:C	donor_gain	1.0000
X:153456266:T:TA	donor_gain	1.0000
X:153456299:T:A	donor_gain	1.0000
X:153456360:TGGCC:T	acceptor_gain	1.0000

AlphaMissense

2435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153469159:A:G	W81R	0.985
X:153469159:A:T	W81R	0.985
X:153469157:C:A	W81C	0.980
X:153469157:C:G	W81C	0.980
X:153469177:G:T	R75S	0.979
X:153455656:A:C	F282L	0.977
X:153455656:A:T	F282L	0.977
X:153455658:A:G	F282L	0.977
X:153455669:A:G	L278P	0.973
X:153457228:C:G	G129R	0.973
X:153469200:A:G	L67P	0.971
X:153469176:C:G	R75P	0.968
X:153469252:A:G	C50R	0.966
X:153469197:A:T	L68Q	0.962
X:153457228:C:A	G129C	0.954
X:153470454:A:G	L45P	0.952
X:153469167:A:G	I78T	0.949
X:153469167:A:C	I78S	0.948
X:153457203:A:G	L137P	0.947
X:153455657:A:G	F282S	0.941
X:153469177:G:C	R75G	0.941
X:153469250:G:C	C50W	0.941
X:153457205:C:A	Q136H	0.937
X:153457205:C:G	Q136H	0.937
X:153469197:A:C	L68R	0.937
X:153470462:G:C	F42L	0.927
X:153470462:G:T	F42L	0.927
X:153470464:A:G	F42L	0.927
X:153469155:A:C	M82R	0.926
X:153469158:C:G	W81S	0.926

dbSNP variants (sampled 300 via entrez): RS1000275678 (X:153467256 C>T), RS1000310656 (X:153493604 G>A), RS1000359306 (X:153448287 C>G,T), RS1000381979 (X:153466514 C>A,G), RS1000481498 (X:153474334 G>A), RS1000555923 (X:153462902 T>C), RS1000646317 (X:153481825 A>G), RS1000814907 (X:153448733 G>A,T), RS1000912767 (X:153495027 G>A,C), RS1000995756 (X:153482136 G>T), RS1001157717 (X:153461066 T>A,C,G), RS1001204083 (X:153488511 C>A,T), RS1001381885 (X:153463636 T>G), RS1001505537 (X:153460786 C>T), RS1001583415 (X:153492559 C>A)

Disease associations

OMIM: gene MIM:300540 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Calcitriol	decreases expression, increases expression, affects cotreatment	2
Valproic Acid	increases expression, increases methylation	2
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
beta-methylcholine	affects expression	1
chromium hexavalent ion	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
NSC 689534	decreases expression, affects binding	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Troglitazone	decreases expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, decreases expression	1
Copper	affects binding, decreases expression	1
Coumestrol	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methapyrilene	decreases methylation	1
Phenobarbital	affects expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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