SREK1IP1

Summary

SREK1IP1 (SREK1 interacting protein 1, HGNC:26716) is a protein-coding gene on chromosome 5q12.3, encoding Protein SREK1IP1 (Q8N9Q2). Possible splicing regulator involved in the control of cellular survival.

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in RNA splicing and mRNA processing.

Source: NCBI Gene 285672 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_173829

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26716
Approved symbol	SREK1IP1
Name	SREK1 interacting protein 1
Location	5q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36754, P18SRP
Ensembl gene	ENSG00000153006
Ensembl biotype	protein_coding
Entrez	285672

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000495198, ENST00000506252, ENST00000510616, ENST00000513458, ENST00000651194, ENST00000918311, ENST00000918312

RefSeq mRNA: 1 — MANE Select: NM_173829 NM_173829

CCDS: CCDS34171

Canonical transcript exons

ENST00000513458 — 5 exons

Exon	Start	End
ENSE00001416384	64728107	64728179
ENSE00001927965	64718148	64724573
ENSE00002076255	64768505	64768691
ENSE00003531956	64741057	64741200
ENSE00003672433	64754315	64754362

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.7834 / max 819.9124, expressed in 1808 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61936	21.3167	1793
61937	8.3883	1701
61934	0.9074	518
61933	0.5672	284
61935	0.4542	211
61932	0.1497	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.75	gold quality
oocyte	CL:0000023	98.46	gold quality
amniotic fluid	UBERON:0000173	97.76	gold quality
tendon of biceps brachii	UBERON:0008188	97.63	gold quality
sperm	CL:0000019	97.36	gold quality
secondary oocyte	CL:0000655	94.52	gold quality
gingival epithelium	UBERON:0001949	94.37	gold quality
male germ cell	CL:0000015	94.15	gold quality
cardia of stomach	UBERON:0001162	93.94	gold quality
penis	UBERON:0000989	93.59	gold quality
pharyngeal mucosa	UBERON:0000355	93.42	gold quality
mammalian vulva	UBERON:0000997	93.40	gold quality
gingiva	UBERON:0001828	92.93	gold quality
pylorus	UBERON:0001166	92.91	gold quality
lower esophagus mucosa	UBERON:0035834	92.68	gold quality
vena cava	UBERON:0004087	92.64	gold quality
pericardium	UBERON:0002407	92.57	gold quality
esophagus squamous epithelium	UBERON:0006920	92.54	gold quality
synovial joint	UBERON:0002217	91.93	gold quality
trabecular bone tissue	UBERON:0002483	91.86	gold quality
superior surface of tongue	UBERON:0007371	91.84	gold quality
renal medulla	UBERON:0000362	91.82	gold quality
nipple	UBERON:0002030	91.36	gold quality
germinal epithelium of ovary	UBERON:0001304	91.33	gold quality
parietal pleura	UBERON:0002400	91.33	gold quality
medial globus pallidus	UBERON:0002477	91.32	gold quality
visceral pleura	UBERON:0002401	91.14	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.90	gold quality
oral cavity	UBERON:0000167	90.54	gold quality
seminal vesicle	UBERON:0000998	90.19	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.29
E-MTAB-10553	yes	6.25
E-HCAD-11	no	1719.64
E-GEOD-98556	no	302.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

238 targeting SREK1IP1, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
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-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7A-5P	99.98	72.29	1790

Literature-anchored findings (GeneRIF, showing 1)

• p18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients. (PMID:15456940)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	srek1ip1	ENSDARG00000043728
mus_musculus	Srek1ip1	ENSMUSG00000021716
rattus_norvegicus	Srek1ip1	ENSRNOG00000047506
rattus_norvegicus	Srek1ip1-ps1	ENSRNOG00000066565
caenorhabditis_elegans		WBGENE00015746

Protein

Protein identifiers

Protein SREK1IP1 — Q8N9Q2 (reviewed: Q8N9Q2)

Alternative names: SFRS12-interacting protein 1, SREK1-interacting protein 1, Splicing regulatory protein of 18 kDa

All UniProt accessions (1): Q8N9Q2

UniProt curated annotations — full annotation on UniProt →

Function. Possible splicing regulator involved in the control of cellular survival.

Subunit / interactions. Interacts with SREK1/SFRS12.

Induction. Down-regulated in the brains of Alzheimer disease patients.

RefSeq proteins (1): NP_776190* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001878	Znf_CCHC	Domain

Pfam: PF13917

UniProt features (11 total): modified residue 4, compositionally biased region 4, chain 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9Q2-F1	64.22	0.00

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 (4): 146, 52, 96, 97

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): ATACCTC_MIR202, PUJANA_CHEK2_PCC_NETWORK, BILD_HRAS_ONCOGENIC_SIGNATURE, MARTINEZ_RB1_TARGETS_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, KMCATNNWGGA_UNKNOWN, GOBP_RNA_SPLICING, SCHLOSSER_SERUM_RESPONSE_DN, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, chr5q12, MARTINEZ_RB1_AND_TP53_TARGETS_UP, NUYTTEN_NIPP1_TARGETS_DN, GCTCTTG_MIR335, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, PILON_KLF1_TARGETS_UP

GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (4): nucleic acid binding (GO:0003676), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
mRNA metabolic process	1
transition metal ion binding	1
cation binding	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SREK1IP1	SREK1	Q8WXA9	786
SREK1IP1	SMIM15	Q7Z3B0	623
SREK1IP1	CCDC28B	Q9BUN5	548
SREK1IP1	ZNF572	Q7Z3I7	528
SREK1IP1	CREG2	Q8IUH2	519
SREK1IP1	PPWD1	Q96BP3	466
SREK1IP1	ZNF28	P17035	457
SREK1IP1	ZNF708	P17019	453
SREK1IP1	SFXN3	Q9BWM7	450
SREK1IP1	ZNF85	Q03923	449
SREK1IP1	SHISAL2B	A6NKW6	430
SREK1IP1	LEMD3	Q9Y2U8	418
SREK1IP1	WIPF1	O43516	410
SREK1IP1	ZNF430	Q9H8G1	405
SREK1IP1	P2RX1	P51575	404

IntAct

115 interactions, top by confidence:

A	B	Type	Score
SDCBP	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.720
SREK1IP1	STAC3	psi-mi:“MI:0915”(physical association)	0.720
SREK1IP1	SDCBP2	psi-mi:“MI:0915”(physical association)	0.720
STAC3	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.720
SDCBP2	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.720
HSD17B14	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.670
SREK1IP1	HSD17B14	psi-mi:“MI:0915”(physical association)	0.670
SREK1IP1	NME1	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1	RBM39	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1	PPCDC	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1		psi-mi:“MI:0915”(physical association)	0.560
	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.560
NME1	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.560
RBM39	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1	ELOA2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (91): SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), SREK1IP1 (Two-hybrid), RP9P (Two-hybrid), SREK1IP1 (Affinity Capture-MS), SREK1IP1 (Affinity Capture-MS), SREK1IP1 (Affinity Capture-MS), SREK1IP1 (Affinity Capture-MS), SREK1IP1 (Affinity Capture-MS), MAP1A (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: Q28EE8, Q3B7G7, Q4V9W2, Q5RJP9, Q84Y18, Q8N9Q2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1103 predictions. Top by Δscore:

Variant	Effect	Δscore
5:64728111:T:A	donor_gain	1.0000
5:64728177:TTC:T	acceptor_gain	1.0000
5:64728178:TC:T	acceptor_gain	1.0000
5:64728178:TCCTG:T	acceptor_loss	1.0000
5:64728179:CC:C	acceptor_gain	1.0000
5:64728180:C:CA	acceptor_loss	1.0000
5:64728180:C:CC	acceptor_gain	1.0000
5:64728193:G:C	acceptor_gain	1.0000
5:64728193:G:GC	acceptor_gain	1.0000
5:64741051:GCTTA:G	donor_loss	1.0000
5:64741053:TTA:T	donor_loss	1.0000
5:64741054:TA:T	donor_loss	1.0000
5:64741055:A:AC	donor_gain	1.0000
5:64741056:C:CC	donor_gain	1.0000
5:64741056:CT:C	donor_gain	1.0000
5:64741056:CTT:C	donor_gain	1.0000
5:64741056:CTTT:C	donor_gain	1.0000
5:64741056:CTTTT:C	donor_gain	1.0000
5:64741196:ACCAG:A	acceptor_gain	1.0000
5:64741197:CCAG:C	acceptor_gain	1.0000
5:64741197:CCAGC:C	acceptor_gain	1.0000
5:64741198:CAG:C	acceptor_gain	1.0000
5:64741198:CAGC:C	acceptor_gain	1.0000
5:64741199:AG:A	acceptor_gain	1.0000
5:64741199:AGC:A	acceptor_loss	1.0000
5:64741200:GCT:G	acceptor_loss	1.0000
5:64741201:C:CC	acceptor_gain	1.0000
5:64741201:C:CG	acceptor_loss	1.0000
5:64741205:G:C	acceptor_gain	1.0000
5:64741205:G:GC	acceptor_gain	1.0000

AlphaMissense

1049 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:64741124:A:C	S46R	1.000
5:64741124:A:T	S46R	1.000
5:64741126:T:G	S46R	1.000
5:64741131:A:T	V44D	1.000
5:64741137:A:G	L42S	1.000
5:64741140:A:T	V41D	1.000
5:64741143:A:T	I40K	1.000
5:64741169:A:C	F31L	1.000
5:64741169:A:T	F31L	1.000
5:64741170:A:G	F31S	1.000
5:64741171:A:G	F31L	1.000
5:64741172:A:C	N30K	1.000
5:64741172:A:T	N30K	1.000
5:64741174:T:C	N30D	1.000
5:64741176:C:G	R29P	1.000
5:64741177:G:T	R29S	1.000
5:64741178:G:C	C28W	1.000
5:64741179:C:A	C28F	1.000
5:64741179:C:G	C28S	1.000
5:64741179:C:T	C28Y	1.000
5:64741180:A:G	C28R	1.000
5:64741180:A:T	C28S	1.000
5:64741181:T:A	E27D	1.000
5:64741181:T:G	E27D	1.000
5:64741183:C:T	E27K	1.000
5:64741184:A:C	F26L	1.000
5:64741184:A:T	F26L	1.000
5:64741185:A:C	F26C	1.000
5:64741185:A:G	F26S	1.000
5:64741186:A:G	F26L	1.000

dbSNP variants (sampled 300 via entrez): RS1000024919 (5:64763641 G>A), RS1000025952 (5:64734511 G>A), RS1000073770 (5:64719610 T>C), RS1000121820 (5:64770438 A>G), RS1000140548 (5:64720894 T>C,G), RS1000168158 (5:64758038 A>T), RS1000220352 (5:64733807 TA>T), RS1000279147 (5:64745644 C>T), RS1000304167 (5:64770203 G>A), RS1000327018 (5:64732494 A>G), RS1000332046 (5:64740192 GAT>G), RS1000368235 (5:64739398 T>C), RS1000403717 (5:64719318 C>T), RS1000554147 (5:64770525 A>G), RS1000657823 (5:64744655 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006269_773	General cognitive ability	6.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	3
trichostatin A	affects cotreatment, decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amiodarone	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1
Endosulfan	decreases expression	1
Estradiol	affects expression	1
Formaldehyde	decreases expression	1
Gold	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Vanadates	increases expression	1
Cyclosporine	decreases expression	1

Clinical trials (associated diseases)

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