STAU1

Summary

STAU1 (staufen double-stranded RNA binding protein 1, HGNC:11370) is a protein-coding gene on chromosome 20q13.13, encoding Double-stranded RNA-binding protein Staufen homolog 1 (O95793). Binds double-stranded RNA (regardless of the sequence) and tubulin.

Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation.

Source: NCBI Gene 6780 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 72 total — 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_017453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11370
Approved symbol	STAU1
Name	staufen double-stranded RNA binding protein 1
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	PPP1R150
Ensembl gene	ENSG00000124214
Ensembl biotype	protein_coding
OMIM	601716
Entrez	6780

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 22 protein_coding

ENST00000340954, ENST00000347458, ENST00000360426, ENST00000371792, ENST00000371802, ENST00000371828, ENST00000371856, ENST00000437404, ENST00000456866, ENST00000851259, ENST00000851260, ENST00000851261, ENST00000851262, ENST00000851263, ENST00000851264, ENST00000851265, ENST00000851266, ENST00000937852, ENST00000949039, ENST00000949040, ENST00000949041, ENST00000949042

RefSeq mRNA: 14 — MANE Select: NM_017453 NM_001037328, NM_001319134, NM_001319135, NM_001322927, NM_001322928, NM_001322929, NM_001322930, NM_001322931, NM_001322932, NM_001322933, NM_004602, NM_017452, NM_017453, NM_017454

CCDS: CCDS13414, CCDS13415, CCDS33481

Canonical transcript exons

ENST00000371856 — 14 exons

Exon	Start	End
ENSE00001392610	49174195	49174269
ENSE00001456369	49165997	49166285
ENSE00001599453	49118333	49118408
ENSE00001642701	49117126	49117248
ENSE00001715897	49115782	49115867
ENSE00001722040	49123092	49123235
ENSE00001733484	49135833	49135931
ENSE00001744287	49117777	49118096
ENSE00001770517	49124375	49124587
ENSE00001796613	49119982	49120128
ENSE00003617742	49153933	49154071
ENSE00003716373	49113339	49114893
ENSE00003790023	49151582	49151747
ENSE00003909139	49188116	49188334

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 141.0289 / max 1024.2279, expressed in 1827 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187728	105.6044	1824
187729	22.9722	1816
187725	4.8001	1635
187727	4.5615	1664
187726	2.3766	1460
187730	0.6719	348
187718	0.0423	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nephron tubule	UBERON:0001231	99.27	gold quality
secondary oocyte	CL:0000655	99.24	gold quality
amniotic fluid	UBERON:0000173	99.13	gold quality
parietal pleura	UBERON:0002400	99.11	gold quality
pancreatic ductal cell	CL:0002079	99.08	gold quality
visceral pleura	UBERON:0002401	99.04	gold quality
pleura	UBERON:0000977	99.01	gold quality
endothelial cell	CL:0000115	98.99	gold quality
epithelial cell of pancreas	CL:0000083	98.92	gold quality
kidney epithelium	UBERON:0004819	98.85	gold quality
esophagus squamous epithelium	UBERON:0006920	98.77	gold quality
germinal epithelium of ovary	UBERON:0001304	98.60	gold quality
epithelium of esophagus	UBERON:0001976	98.57	gold quality
palpebral conjunctiva	UBERON:0001812	98.50	gold quality
squamous epithelium	UBERON:0006914	98.47	gold quality
renal glomerulus	UBERON:0000074	98.46	gold quality
metanephric glomerulus	UBERON:0004736	98.44	gold quality
tibia	UBERON:0000979	98.39	gold quality
epithelium of bronchus	UBERON:0002031	98.28	gold quality
bronchus	UBERON:0002185	98.27	gold quality
epithelium of nasopharynx	UBERON:0001951	98.25	gold quality
tongue squamous epithelium	UBERON:0006919	98.25	gold quality
type B pancreatic cell	CL:0000169	98.21	gold quality
oviduct epithelium	UBERON:0004804	98.21	gold quality
olfactory bulb	UBERON:0002264	98.20	gold quality
bronchial epithelial cell	CL:0002328	98.17	gold quality
gingival epithelium	UBERON:0001949	98.17	gold quality
renal medulla	UBERON:0000362	98.11	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.09	gold quality
epithelium of mammary gland	UBERON:0003244	98.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting STAU1, 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-4425	100.00	67.59	1049
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-1205	99.65	66.76	1826

Literature-anchored findings (GeneRIF, showing 40)

• Data show that the Staufen isoform Stau(55)co-fractionates with ribosomes, suggesting that it plays some role in translation. (PMID:12133005)
• These data show that Staufen, pr55(Gag), and genomic RNA are part of the same intracellular complex and support a role for Staufen in pr55(Gag) function in viral assembly, genomic RNA encapsidation, and the generation of infectious viral particles. (PMID:15024055)
• The identity of proteins present in staufen complexes from RNA granules indicates that staufen has a role in transport and translation of messenger RNAs. (PMID:15121898)
• Stau1 influences HIV-1 assembly by modulating pr55Gag-pr55Gag interactions, as shown in a live cell interaction assay (PMID:17428849)
• Stau1 influences the expression of a wide variety of physiologic transcripts and metabolic pathways. (PMID:17510634)
• Stau1- and Stau2-mRNPs associate with distinct but overlapping sets of cellular mRNAs. (PMID:18094122)
• 12 amino acids at the N-terminal end of Stau1 is necessary to increase Pr55Gag multimerization and particle release. (PMID:18498651)
• isolated a novel transcript of STAU1, coding a novel isoform that has six amino acids more (SFPLKQ) than isoform a (PMID:18806890)
• Work provides new evidence that Staufen1-containing HIV-1 RNPs preferentially form over other cellular silencing foci and are involved in assembly, localization and encapsidation of vRNA. (PMID:20053637)
• The oligomeric composition of Stau1-containing complexes and the presence of specific mRNAs have been confirmed by biochemical approaches involving two successive immunoprecipitations of Stau1-tagged molecules followed by qRT-PCR amplification. (PMID:20075165)
• Gag specifically recruited Staufen1 to the detergent insoluble membranes supporting a key function for this host factor during virus assembly. (PMID:20459747)
• These results indicate a role for hStau1 in late events of the influenza virus infection, possibly during virus morphogenesis. (PMID:20504931)
• findings that the binding of STAU1 to mRNAs can be transactivated by long non-coding RNAs uncovers an unexpected strategy that cells use to recruit proteins to mRNAs and mediate the decay of these mRNAs (PMID:21307942)
• the specific region responsible for the interaction between Stau1 and influenza A Virus NS1 was identified. (PMID:21945618)
• our results unravel a novel function for Staufen1 in splicing regulation and indicate that it may positively modulate the complex DM1 phenotype (PMID:22431750)
• For Stau1-mediated mRNA decay, Stau1 binds to the 3’ untranslated region of target mRNA and recruits Upf1 to elicit rapid mRNA degradation. (PMID:22503102)
• TDP-43 is physically associated with fragile X mental retardation protein (FMRP) and Staufen (STAU1) to form a functional complex. (PMID:22584570)
• this study reports the identification of two new hGIP-interacting partners, DTX1 and STAU1. (PMID:23395680)
• SSM-mediated hSTAU1 dimerization increases the efficiency of SMD by augmenting hSTAU1 binding to the ATP-dependent RNA helicase hUPF1 (PMID:23524536)
• The regulation of STAU1 mediated mRNA decay efficiency by NS1 may contribute to building a more favorable cellular environment for viral replication. (PMID:23722113)
• STAU1 binding to 3’ UTR IRAlus functions along with 3’ UTR IRAlus-mediated nuclear retention to suppress the shutdown of cellular translation triggered by PKR binding to endogenous cytoplasmic dsRNAs (PMID:23824540)
• Staufen1 is an important factor in HCV replication and it might play a role early in the HCV replication cycle, rather than virion morphogenesis. (PMID:23907398)
• These results suggest a new role for Staufen-1 as a cellular Rec and human endogenous retrovirus family HERV-K Gag cofactor. (PMID:23926355)
• TINCR, together with Staufen1, seems to stabilize a subset of mRNAs required for epidermal differentiation. (PMID:24019000)
• STAU1 binding to a 3’-UTR SBS was previously shown to trigger STAU1-mediated mRNA decay (SMD) by directly recruiting the ATP-dependent RNA helicase UPF1 (PMID:24056942)
• A common sequence signature consisting of two opposite-polarity Alu motifs was present in the hStau1-associated mRNAs and was shown to be sufficient for binding to hStau1 and hStau1-dependent stimulation of protein expression. (PMID:24470147)
• expression of human Staufen1 is essential for proper dendritic arborisation during neuroblastoma cell differentiation, yet it is not necessary for maintenance of differentiated state, and suggest potential human Stauf1 mRNA targets involved in the process (PMID:25423178)
• The changing pattern of STAU distribution during meiotic maturation of human oocytes implicates a novel mechanism for the regulation of protein synthesis based on mRNA localization (PMID:25620022)
• in vivo atlas of mRNA secondary structures recognized by Staufen 1 (PMID:25799984)
• together, these data highlight the broad impact of Stau1 as a splicing regulator and suggest that Stau1 may act as a disease modifier in DM1. (PMID:26824521)
• Our findings suggest that HCV may appropriate Stau1 to its advantage to prevent PKR-mediated inhibition of eIF2alpha, which is required for the synthesis of HCV proteins for translocation of viral RNA genome to the polysomes for efficient translation and replication. (PMID:27106056)
• Stau1 is a stress response gene that remains efficiently translated during hypoxia and ER stress despite the substantial global inhibition of cap-dependent protein translation, promoting cell recovery following stress (PMID:27644878)
• Mechanistically, we suggest that SNHG5 stabilizes the target transcripts by blocking their degradation by STAU1. Accordingly, depletion of STAU1 rescues the apoptosis induced after SNHG5 knockdown. Hence, we characterize SNHG5 as a lncRNA promoting tumour cell survival in colorectal cancer. (PMID:28004750)
• Staufen1 has differential roles in embryonal versus alveolar rhabdomyosarcoma through the control of proliferative and apoptotic pathways, respectively. (PMID:28211476)
• ADAR1p110 isoform competitively inhibits binding of Staufen1 to the 3’-untranslated-region dsRNAs and antagonizes Staufen1-mediated mRNA decay. (PMID:28436945)
• E2F1 induces TINCR transcriptional activity and accelerates gastric cancer progression via activation of TINCR/STAU1/CDKN2B signaling axis. (PMID:28569791)
• The results revealed the collaboration of two RNA-binding proteins, STAU1 and Lin28B, as a regulatory mechanism in neuronal differentiation. (PMID:29099484)
• The findings illustrate that lipopolysaccharide participates in Hirschsprung’s disease through the ADAR2-miR-142-STAU1 axis. (PMID:29956457)
• recruited to mutant ATXN2 aggregates in spinocerebellar ataxia type 2 fibroblasts (PMID:30194296)
• Our data indicate that STAU1 plays a critical role in Ebola virus replication by coordinating interactions between the viral genome and RNA synthesis machinery. (PMID:30301857)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	stau1	ENSDARG00000044182
mus_musculus	Stau1	ENSMUSG00000039536
rattus_norvegicus	Stau1	ENSRNOG00000007781
drosophila_melanogaster	loqs	FBGN0032515
drosophila_melanogaster	CG12493	FBGN0035571
drosophila_melanogaster	blanks	FBGN0035608
drosophila_melanogaster	Zn72D	FBGN0263603
caenorhabditis_elegans	zfr-1	WBGENE00022388

Paralogs (14): STAU2 (ENSG00000040341), ZFR (ENSG00000056097), ADAT1 (ENSG00000065457), ZFR2 (ENSG00000105278), ILF3 (ENSG00000129351), TARBP2 (ENSG00000139546), ADAD2 (ENSG00000140955), ILF2 (ENSG00000143621), ADAR (ENSG00000160710), ADAD1 (ENSG00000164113), STRBP (ENSG00000165209), PRKRA (ENSG00000180228), ADARB2 (ENSG00000185736), ADARB1 (ENSG00000197381)

Protein

Protein identifiers

Double-stranded RNA-binding protein Staufen homolog 1 — O95793 (reviewed: O95793)

All UniProt accessions (4): O95793, F6UDC6, Q5JW28, Q5JW30

UniProt curated annotations — full annotation on UniProt →

Function. Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site. (Microbial infection) Plays a role in virus particles production of many viruses including of HIV-1, HERV-K, ebola virus and influenza virus. Acts by interacting with various viral proteins involved in particle budding process.

Subunit / interactions. Binds tubulin. Binds with low affinity single-stranded RNA or DNA homopolymers. Interacts with CASC3 in an RNA-dependent manner. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. (Microbial infection) Interacts with HERV-K rec and gag proteins. (Microbial infection) Interacts with HIV-1 GAG polyprotein. (Microbial infection) Interacts with influenza virus NS1 protein. (Microbial infection) Interacts with Ebola virus NP, VP30 and VP35.

Subcellular location. Cytoplasm. Rough endoplasmic reticulum.

Tissue specificity. Widely expressed. Expressed in brain, pancreas, heart, skeletal muscles, liver, lung, kidney and placenta.

Domain organisation. One of the DRDB could be involved in RER binding. The C-terminal contains the tubulin binding domain (TBD).

Isoforms (3)

UniProt ID	Names	Canonical?
O95793-1	Long	yes
O95793-2	Short
O95793-3	3

RefSeq proteins (14): NP_001032405, NP_001306063, NP_001306064, NP_001309856, NP_001309857, NP_001309858, NP_001309859, NP_001309860, NP_001309861, NP_001309862, NP_004593, NP_059346, NP_059347, NP_059348 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014720	dsRBD_dom	Domain
IPR032478	Staufen_C	Domain
IPR044475	STAU1_DSRM_3	Domain
IPR051740	DRBM-containing_protein	Family

Pfam: PF00035, PF16482

UniProt features (43 total): strand 12, helix 9, modified residue 7, domain 3, splice variant 2, sequence conflict 2, turn 2, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4DKK	X-RAY DIFFRACTION	1.7
6HTU	X-RAY DIFFRACTION	2.89
6SDW	SOLUTION NMR
6SDY	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95793-F1	68.68	0.29

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 (7): 108, 115, 115, 176, 278, 390, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): MODULE_52, RRAGTTGT_UNKNOWN, GOBP_AXO_DENDRITIC_TRANSPORT, RORA1_01, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_REGULATION_BY_VIRUS_OF_VIRAL_PROTEIN_LEVELS_IN_HOST_CELL, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_VIRAL_GENOME_REPLICATION, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, GOBP_CELL_CELL_SIGNALING, AACWWCAANK_UNKNOWN, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_CELL_JUNCTION_ORGANIZATION

GO Biological Process (11): lncRNA-mediated post-transcriptional gene silencing (GO:0000512), germ cell development (GO:0007281), intracellular mRNA localization (GO:0008298), cellular response to oxidative stress (GO:0034599), protein localization to synapse (GO:0035418), positive regulation of viral genome replication (GO:0045070), positive regulation by virus of viral protein levels in host cell (GO:0046726), anterograde dendritic transport of messenger ribonucleoprotein complex (GO:0098964), modification of postsynaptic structure (GO:0099010), positive regulation of long-term synaptic potentiation (GO:1900273), modulation of chemical synaptic transmission (GO:0050804)

GO Molecular Function (5): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), mRNA binding (GO:0003729), protein phosphatase 1 binding (GO:0008157), protein binding (GO:0005515)

GO Cellular Component (17): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), rough endoplasmic reticulum (GO:0005791), cytosol (GO:0005829), microtubule associated complex (GO:0005875), plasma membrane (GO:0005886), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), dendrite (GO:0030425), dendrite cytoplasm (GO:0032839), cytoplasmic ribonucleoprotein granule (GO:0036464), neuron projection (GO:0043005), neuronal cell body (GO:0043025), cell body (GO:0044297), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
positive regulation of viral process	2
RNA binding	2
regulatory ncRNA-mediated post-transcriptional gene silencing	1
developmental process involved in reproduction	1
gamete generation	1
cellular process involved in reproduction in multicellular organism	1
cell development	1
RNA localization	1
response to oxidative stress	1
cellular response to chemical stress	1
protein localization to cell junction	1
viral genome replication	1
regulation of viral genome replication	1
regulation by virus of viral protein levels in host cell	1
anterograde dendritic transport	1
modification of synaptic structure	1
positive regulation of synaptic transmission	1
long-term synaptic potentiation	1
regulation of long-term synaptic potentiation	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
nucleic acid binding	1
protein phosphatase binding	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
microtubule cytoskeleton	1
protein-containing complex	1
membrane	1
cell periphery	1
cytoplasmic ribonucleoprotein granule	1
neuron projection	1
dendritic tree	1
dendrite	1
neuron projection cytoplasm	1
ribonucleoprotein granule	1

Protein interactions and networks

STRING

2400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAU1	UPF1	Q92900	939
STAU1	UPF2	Q9HAU5	883
STAU1	UPF3B	Q9BZI7	871
STAU1	FMR1	Q06787	848
STAU1	SAMD4A	Q9UPU9	835
STAU1	ELAVL1	Q15717	795
STAU1	SMG5	Q9UPR3	789
STAU1	TIAL1	Q01085	785
STAU1	TIA1	P31483	773
STAU1	SMG7	Q92540	768
STAU1	TINCR	A0A2R8Y7D0	763
STAU1	ARF1	P10947	730
STAU1	PABPC1	P11940	686
STAU1	EIF4A3	P38919	652
STAU1	ADAR	P55265	648

IntAct

416 interactions, top by confidence:

A	B	Type	Score
STAU1	NS	psi-mi:“MI:0915”(physical association)	0.810
NS	STAU1	psi-mi:“MI:0915”(physical association)	0.810
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
STAU1	RPS6	psi-mi:“MI:0403”(colocalization)	0.770
NS	PIK3R2	psi-mi:“MI:0914”(association)	0.750
STAU1	RPLP0	psi-mi:“MI:0914”(association)	0.750
RPLP0	STAU1	psi-mi:“MI:0915”(physical association)	0.750
LONRF1	STAU1	psi-mi:“MI:0915”(physical association)	0.720
STAU1	NXT1	psi-mi:“MI:0915”(physical association)	0.720
STAU1	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
NXT1	STAU1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	STAU1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
STAU1	DHX9	psi-mi:“MI:0403”(colocalization)	0.680
PRKRA	STAU1	psi-mi:“MI:0915”(physical association)	0.670
IGF2BP1	STAU1	psi-mi:“MI:0915”(physical association)	0.650
IGF2BP1	STAU1	psi-mi:“MI:0403”(colocalization)	0.650
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640

BioGRID (2183): GLRX3 (Two-hybrid), NXT1 (Two-hybrid), ZMAT3 (Two-hybrid), LONRF1 (Two-hybrid), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS), STAU1 (Affinity Capture-MS)

ESM2 similar proteins: B0V3F8, D2GVP7, E1BVR9, E9PYK3, O75569, O82387, O95793, P51400, P55265, P55266, P78563, P86049, Q08BH5, Q0P4R6, Q10HL3, Q175F8, Q2HJ92, Q32PY6, Q3EBC8, Q3U3W5, Q4R2Z0, Q4R3W5, Q4V8C7, Q5M7M7, Q5N870, Q5N8Z0, Q5T8I9, Q5W9E7, Q68SB1, Q6DCB7, Q6P2P2, Q7XD96, Q7ZW47, Q7ZYA5, Q8BGG7, Q8CAE2, Q8CJ67, Q8K4M9, Q8NHP6, Q8TBY0

Diamond homologs: A9WJ69, B2A2N1, B9LB70, D2GVP7, O75569, O95793, Q027L3, Q2HJ92, Q3L1C9, Q4SS66, Q4V8C7, Q5M7M7, Q68SB1, Q7SXR1, Q7ZW47, Q7ZYA5, Q8CJ67, Q8R9W3, Q91836, Q9NUL3, Q9WTX2, Q9Z108, A7GRH9, A7Z4L3, A8F397, A8GM79, A8GYE2, B0V3F8, B8GAM6, C4K3Z3, C5D8T6, P25159, P51833, P97473, Q0IIG6, Q15633, Q17XJ6, Q1RHA2, Q3SWU0, Q4UKA8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 172 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
Anchoring of the basal body to the plasma membrane	8	8.0×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytoplasmic translation	5	33.3×	9e-05
stress granule assembly	6	24.2×	6e-05
negative regulation of translation	10	13.2×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	57
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	Likely pathogenic

SpliceAI

2917 predictions. Top by Δscore:

Variant	Effect	Δscore
20:49115780:A:AC	donor_gain	1.0000
20:49115781:C:CC	donor_gain	1.0000
20:49115781:CA:C	donor_gain	1.0000
20:49115781:CACAG:C	donor_gain	1.0000
20:49117121:CGTA:C	donor_loss	1.0000
20:49117122:GTA:G	donor_loss	1.0000
20:49117124:A:AC	donor_gain	1.0000
20:49117124:A:AG	donor_loss	1.0000
20:49117125:C:CC	donor_gain	1.0000
20:49117125:C:CG	donor_loss	1.0000
20:49117245:CAAC:C	acceptor_gain	1.0000
20:49117249:C:CA	acceptor_loss	1.0000
20:49117249:C:CC	acceptor_gain	1.0000
20:49117250:T:A	acceptor_loss	1.0000
20:49118331:A:AC	donor_gain	1.0000
20:49118332:C:CC	donor_gain	1.0000
20:49118332:CTAGT:C	donor_gain	1.0000
20:49118409:C:CC	acceptor_gain	1.0000
20:49118410:T:C	acceptor_gain	1.0000
20:49118410:T:TC	acceptor_gain	1.0000
20:49118742:A:T	acceptor_gain	1.0000
20:49119978:TCAC:T	donor_loss	1.0000
20:49119979:CA:C	donor_loss	1.0000
20:49119980:A:AC	donor_gain	1.0000
20:49119980:AC:A	donor_gain	1.0000
20:49119980:ACCTT:A	donor_gain	1.0000
20:49119981:C:CT	donor_gain	1.0000
20:49119981:CC:C	donor_gain	1.0000
20:49119981:CCTT:C	donor_gain	1.0000
20:49119981:CCTTC:C	donor_gain	1.0000

AlphaMissense

3771 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:49117135:G:C	C541W	1.000
20:49117160:C:T	G533D	1.000
20:49117161:C:G	G533R	1.000
20:49117199:A:G	L520P	1.000
20:49117203:A:G	S519P	1.000
20:49117231:G:C	F509L	1.000
20:49117231:G:T	F509L	1.000
20:49117233:A:G	F509L	1.000
20:49117799:A:G	L496P	1.000
20:49117808:A:G	L493P	1.000
20:49117919:G:T	A456D	1.000
20:49120049:A:G	L349P	1.000
20:49120061:G:T	A345D	1.000
20:49120062:C:G	A345P	1.000
20:49120064:G:T	A344E	1.000
20:49120065:C:G	A344P	1.000
20:49120070:C:G	R342P	1.000
20:49120072:C:A	K341N	1.000
20:49120072:C:G	K341N	1.000
20:49120074:T:C	K341E	1.000
20:49120076:G:T	A340D	1.000
20:49120084:C:A	K337N	1.000
20:49120084:C:G	K337N	1.000
20:49120086:T:C	K337E	1.000
20:49120100:C:T	G332E	1.000
20:49120101:C:G	G332R	1.000
20:49120101:C:T	G332R	1.000
20:49123101:A:C	F319L	1.000
20:49123101:A:T	F319L	1.000
20:49123102:A:G	F319S	1.000

dbSNP variants (sampled 300 via entrez): RS1000050584 (20:49194467 A>G), RS1000063608 (20:49204369 T>C), RS1000121363 (20:49208366 T>C), RS1000158751 (20:49160834 A>T), RS1000216287 (20:49199237 T>A,C), RS1000237854 (20:49208241 G>A), RS1000273264 (20:49126850 T>A,G), RS1000278055 (20:49152689 T>G), RS1000280744 (20:49166782 T>C), RS1000318738 (20:49155653 A>C,G), RS1000400793 (20:49161044 C>A,T), RS1000437397 (20:49198821 G>A), RS1000437570 (20:49158376 C>T), RS1000440397 (20:49118172 C>A,G,T), RS1000450160 (20:49138635 G>C)

Disease associations

OMIM: gene MIM:601716 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST002324_11	Anger	7.000000e-06
GCST002647_172	Height	2.000000e-24
GCST005141_31	Cognitive ability (MTAG)	8.000000e-11
GCST005141_32	Cognitive ability (MTAG)	1.000000e-08
GCST005142_45	Cognitive ability	2.000000e-07
GCST005142_46	Cognitive ability	1.000000e-08
GCST005316_243	Intelligence (MTAG)	2.000000e-19
GCST005316_428	Intelligence (MTAG)	7.000000e-12
GCST006269_504	General cognitive ability	3.000000e-17
GCST006923_15	Loneliness	3.000000e-08
GCST006924_7	Loneliness (MTAG)	3.000000e-09
GCST007044_24	Extremely high intelligence	7.000000e-10
GCST008161_33	Waist circumference adjusted for body mass index	1.000000e-06
GCST008163_428	Height	3.000000e-06
GCST008292_1	Change in quality of life in response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease	1.000000e-09
GCST008595_227	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	5.000000e-09
GCST009463_13	Loneliness	1.000000e-08
GCST010577_23	Crohn’s disease	3.000000e-06
GCST90000025_688	Appendicular lean mass	1.000000e-39
GCST90002386_518	High light scatter reticulocyte percentage of red cells	2.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0003015	aggressive behavior
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0007865	loneliness measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0010062	response to salmeterol
EFO:0010068	respiratory symptom change measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066987 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.87	Kd	13.37	nM	CHEMBL5653589
7.87	ED50	13.37	nM	CHEMBL5653589
5.64	Kd	2267	nM	CHEMBL3752910
5.64	ED50	2267	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149505: Binding affinity to human STAU1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0134	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149505: Binding affinity to human STAU1 incubated for 45 mins by Kinobead based pull down assay	kd	2.2670	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, affects cotreatment	3
bisphenol F	increases expression, affects cotreatment	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
salinomycin	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
nivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Dinitrochlorobenzene	affects binding	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Fluorouracil	decreases expression	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Isoniazid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652547	Binding	Binding affinity to human STAU1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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