SIRAL1

Summary

SIRAL1 (SIR2 antiphage like 1, HGNC:26110) is a protein-coding gene on chromosome 11q24.2, encoding Protein FAM118B (Q9BPY3). May play a role in Cajal bodies formation.

Enables identical protein binding activity. Predicted to be located in Cajal body.

Source: NCBI Gene 79607 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_024556

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26110
Approved symbol	SIRAL1
Name	SIR2 antiphage like 1
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	SIRal, FLJ21103
Ensembl gene	ENSG00000197798
Ensembl biotype	protein_coding
OMIM	616587
Entrez	79607

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 28 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000360194, ENST00000525338, ENST00000525728, ENST00000527247, ENST00000528985, ENST00000529731, ENST00000530043, ENST00000531935, ENST00000533050, ENST00000627851, ENST00000891477, ENST00000891478, ENST00000891479, ENST00000891480, ENST00000891481, ENST00000891482, ENST00000891483, ENST00000891484, ENST00000891485, ENST00000891486, ENST00000933494, ENST00000933495, ENST00000933496, ENST00000933497, ENST00000933498, ENST00000933499, ENST00000933500, ENST00000942845, ENST00000942846, ENST00000942847, ENST00000942848

RefSeq mRNA: 2 — MANE Select: NM_024556 NM_001330446, NM_024556

CCDS: CCDS81647, CCDS8470

Canonical transcript exons

ENST00000533050 — 9 exons

Exon	Start	End
ENSE00000991269	126254305	126254433
ENSE00000991270	126256567	126256852
ENSE00000991271	126261425	126261484
ENSE00001203239	126229225	126229293
ENSE00002175106	126262120	126262968
ENSE00002177170	126211782	126211830
ENSE00003555205	126234995	126235087
ENSE00003565323	126250506	126250733
ENSE00003649190	126240792	126241044

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 94.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7891 / max 270.0191, expressed in 1797 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117489	15.3111	1797
117488	0.4780	275

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.16	gold quality
secondary oocyte	CL:0000655	94.16	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.42	gold quality
colonic mucosa	UBERON:0000317	91.29	gold quality
rectum	UBERON:0001052	90.80	gold quality
mucosa of transverse colon	UBERON:0004991	90.38	gold quality
cortical plate	UBERON:0005343	89.48	gold quality
tendon of biceps brachii	UBERON:0008188	89.44	gold quality
ileal mucosa	UBERON:0000331	89.24	gold quality
heart right ventricle	UBERON:0002080	88.65	gold quality
monocyte	CL:0000576	88.55	gold quality
nucleus accumbens	UBERON:0001882	88.55	gold quality
medial globus pallidus	UBERON:0002477	88.53	gold quality
caudate nucleus	UBERON:0001873	88.34	gold quality
leukocyte	CL:0000738	88.24	gold quality
deltoid	UBERON:0001476	88.04	gold quality
gastrocnemius	UBERON:0001388	87.88	gold quality
transverse colon	UBERON:0001157	87.76	gold quality
muscle of leg	UBERON:0001383	87.71	gold quality
putamen	UBERON:0001874	87.70	gold quality
islet of Langerhans	UBERON:0000006	87.00	gold quality
smooth muscle tissue	UBERON:0001135	86.91	gold quality
stromal cell of endometrium	CL:0002255	86.75	gold quality
heart left ventricle	UBERON:0002084	86.74	gold quality
pancreatic ductal cell	CL:0002079	86.63	silver quality
cardiac ventricle	UBERON:0002082	86.62	gold quality
left ventricle myocardium	UBERON:0006566	86.53	gold quality
epithelial cell of pancreas	CL:0000083	86.39	gold quality
large intestine	UBERON:0000059	86.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	195.63
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting SIRAL1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540

Literature-anchored findings (GeneRIF, showing 1)

• YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. (PMID:33074854)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam118b	ENSDARG00000078983
mus_musculus	Fam118b	ENSMUSG00000050471
rattus_norvegicus	Fam118b	ENSRNOG00000011543

Paralogs (1): FAM118A (ENSG00000100376)

Protein

Protein identifiers

Protein FAM118B — Q9BPY3 (reviewed: Q9BPY3)

All UniProt accessions (6): E9PIM5, E9PMJ2, E9PMW3, G3V179, J3KP39, Q9BPY3

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in Cajal bodies formation.

Subcellular location. Nucleus. Cajal body.

Miscellaneous. Overexpression changes the morphology of Cajal bodies, while depletion disrupts the localization of components of Cajal bodies, reduces splicing capacity and inhibits cell proliferation.

Similarity. Belongs to the FAM118 family.

RefSeq proteins (2): NP_001317375, NP_078832* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038916	FAM118	Family

Pfam: PF13289

UniProt features (5 total): modified residue 2, initiator methionine 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9R0P	ELECTRON MICROSCOPY	4.1
9R3E	ELECTRON MICROSCOPY	4.8
9R0S	ELECTRON MICROSCOPY	5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BPY3-F1	84.66	0.64

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 (2): 2, 9

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, TGGNNNNNNKCCAR_UNKNOWN, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GOCC_CAJAL_BODY, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, chr11q24, CAGTATT_MIR200B_MIR200C_MIR429, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, LEE_BMP2_TARGETS_DN, GOCC_SUPRAMOLECULAR_COMPLEX, ESC_J1_UP_EARLY.V1_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_BALBC_MOUSE_UP, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_129_MOUSE_DN

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (2): Cajal body (GO:0015030), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1
nuclear ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1127 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIRAL1	MAMLD1	Q13495	815
SIRAL1	ZFTA	C9JLR9	808
SIRAL1	YAP1	P46937	572
SIRAL1	NUTM1	Q86Y26	451
SIRAL1	INTS4	Q96HW7	446
SIRAL1	PRKG1	P14619	435
SIRAL1	RELA	Q04206	411
SIRAL1	MAML2	Q8IZL2	409
SIRAL1	EZHIP	Q86X51	383
SIRAL1	TFE3	P19532	368
SIRAL1	TMEM185B	Q9H7F4	360
SIRAL1	CAMTA1	Q9Y6Y1	356
SIRAL1	MAML3	Q96JK9	346
SIRAL1	RHBDD3	Q9Y3P4	332
SIRAL1	TRMO	Q9BU70	320

IntAct

101 interactions, top by confidence:

A	B	Type	Score
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
FAM118A	FAM118B	psi-mi:“MI:0915”(physical association)	0.720
FAM118B	FAM118A	psi-mi:“MI:0915”(physical association)	0.720
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
TOMM22	XRCC3	psi-mi:“MI:0914”(association)	0.640
FAM118B	SDCBP	psi-mi:“MI:0915”(physical association)	0.560
SUMO1P1	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
SUMO1	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	BAG5	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
BAG5	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	SUMO1	psi-mi:“MI:0915”(physical association)	0.560
RNF8	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
PIAS2	FAM118B	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	PDCD10	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530

BioGRID (101): FAM118B (Two-hybrid), FAM118B (Two-hybrid), FAM118B (Two-hybrid), FAM118B (Two-hybrid), SUMO1P1 (Two-hybrid), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), FAM118B (Affinity Capture-MS)

ESM2 similar proteins: A0A0M5K865, A0A0P0VUY4, A0A2H5RJD4, A0A447CCJ8, A0A516F180, A0A516F183, B1Q3J6, B2AFA8, C0SQ89, E9M7A1, F4K493, G4YRT1, G4YUT3, O93248, P0CV73, P15918, P15919, P24271, P26358, P34088, P93002, Q0E0Q3, Q24K09, Q2M3Z7, Q2M3Z8, Q2M405, Q2M408, Q67E00, Q67E01, Q6RX08, Q7Y1I7, Q803H0, Q867B5, Q8AXQ3, Q8BMD7, Q8C569, Q8CBQ5, Q8H6Z4, Q8H6Z6, Q8LPU5

Diamond homologs: Q4QQT2, Q4R836, Q5E977, Q8C569, Q91YN1, Q9BPY3, Q9NWS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1635 predictions. Top by Δscore:

Variant	Effect	Δscore
11:126229333:T:G	donor_gain	1.0000
11:126234991:TTAG:T	acceptor_loss	1.0000
11:126234992:TA:T	acceptor_loss	1.0000
11:126234993:A:AG	acceptor_gain	1.0000
11:126234993:A:AT	acceptor_loss	1.0000
11:126234994:G:GG	acceptor_gain	1.0000
11:126241041:TCCT:T	donor_gain	1.0000
11:126241045:G:GG	donor_gain	1.0000
11:126250504:A:AG	acceptor_gain	1.0000
11:126250505:G:GG	acceptor_gain	1.0000
11:126250505:GC:G	acceptor_gain	1.0000
11:126250730:AAAG:A	donor_loss	1.0000
11:126250731:AAGG:A	donor_loss	1.0000
11:126250732:AG:A	donor_loss	1.0000
11:126250733:GGTAA:G	donor_loss	1.0000
11:126256564:CA:C	acceptor_loss	1.0000
11:126256565:A:AC	acceptor_loss	1.0000
11:126256565:A:AG	acceptor_gain	1.0000
11:126256566:G:GA	acceptor_gain	1.0000
11:126256566:GA:G	acceptor_gain	1.0000
11:126256566:GAGA:G	acceptor_gain	1.0000
11:126256852:GG:G	donor_loss	1.0000
11:126256853:G:GA	donor_loss	1.0000
11:126256854:T:A	donor_loss	1.0000
11:126262119:GGCT:G	acceptor_gain	1.0000
11:126229273:G:GT	donor_gain	0.9900
11:126231166:T:A	acceptor_gain	0.9900
11:126234994:GA:G	acceptor_gain	0.9900
11:126234994:GAAA:G	acceptor_gain	0.9900
11:126235083:CCCAG:C	donor_loss	0.9900

AlphaMissense

2313 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:126240848:G:A	G48E	1.000
11:126240898:T:A	W65R	1.000
11:126240898:T:C	W65R	1.000
11:126240900:G:C	W65C	1.000
11:126240900:G:T	W65C	1.000
11:126241016:C:A	A104D	1.000
11:126241025:T:C	L107P	1.000
11:126250655:T:A	N163K	1.000
11:126250655:T:G	N163K	1.000
11:126240809:T:C	L35S	0.999
11:126240847:G:A	G48R	0.999
11:126240847:G:C	G48R	0.999
11:126240848:G:T	G48V	0.999
11:126240854:G:A	G50D	0.999
11:126240859:A:C	S52R	0.999
11:126240861:T:A	S52R	0.999
11:126240861:T:G	S52R	0.999
11:126240899:G:C	W65S	0.999
11:126241037:T:C	L111P	0.999
11:126250648:C:T	T161I	0.999
11:126250659:G:C	D165H	0.999
11:126250660:A:C	D165A	0.999
11:126250660:A:T	D165V	0.999
11:126254314:T:A	W193R	0.999
11:126254314:T:C	W193R	0.999
11:126254347:C:G	H204D	0.999
11:126254357:G:A	G207E	0.999
11:126256606:T:C	F246L	0.999
11:126256607:T:C	F246S	0.999
11:126256608:C:A	F246L	0.999

dbSNP variants (sampled 300 via entrez): RS1000001988 (11:126211625 C>T), RS1000037247 (11:126231419 T>C), RS1000108868 (11:126257842 C>A), RS1000176021 (11:126239425 G>A), RS1000207768 (11:126246573 C>G,T), RS1000211101 (11:126250274 G>A), RS1000297544 (11:126217872 T>C), RS1000374053 (11:126244551 C>A), RS1000419633 (11:126253374 G>C,T), RS1000431926 (11:126236862 G>A), RS1000456607 (11:126257366 A>G), RS1000483971 (11:126238139 A>G), RS1000547841 (11:126239780 C>T), RS1000636636 (11:126229487 A>G), RS1000724092 (11:126244213 G>A)

Disease associations

OMIM: gene MIM:616587 | 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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Acetaminophen	increases expression	2
Hydrogen Peroxide	affects expression, increases expression	2
dicrotophos	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Bortezomib	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Doxorubicin	decreases expression	1
Nickel	decreases expression	1
Testosterone	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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