IFI27L1

Summary

IFI27L1 (interferon alpha inducible protein 27 like 1, HGNC:19754) is a protein-coding gene on chromosome 14q32.12, encoding Interferon alpha-inducible protein 27-like protein 1 (Q96BM0). Plays a role in the apoptotic process and has a pro-apoptotic activity.

Predicted to enable molecular adaptor activity. Involved in apoptotic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane.

Source: NCBI Gene 122509 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_206949

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19754
Approved symbol	IFI27L1
Name	interferon alpha inducible protein 27 like 1
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000165948
Ensembl biotype	protein_coding
OMIM	611320
Entrez	122509

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 33 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000393115, ENST00000553350, ENST00000553664, ENST00000554166, ENST00000554544, ENST00000554562, ENST00000555065, ENST00000555341, ENST00000555523, ENST00000556381, ENST00000557066, ENST00000557218, ENST00000557600, ENST00000909478, ENST00000909479, ENST00000909480, ENST00000909481, ENST00000909482, ENST00000909483, ENST00000909484, ENST00000929336, ENST00000929337, ENST00000929338, ENST00000929339, ENST00000929340, ENST00000929341, ENST00000929342, ENST00000929343, ENST00000929344, ENST00000929345, ENST00000929346, ENST00000929347, ENST00000929348, ENST00000929349, ENST00000929350, ENST00000971262

RefSeq mRNA: 2 — MANE Select: NM_206949 NM_145249, NM_206949

CCDS: CCDS9919

Canonical transcript exons

ENST00000555523 — 5 exons

Exon	Start	End
ENSE00002504599	94081310	94081449
ENSE00003506206	94100739	94100771
ENSE00003535563	94101814	94101975
ENSE00003597499	94096887	94096965
ENSE00003661871	94102477	94102709

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8202 / max 97.5973, expressed in 1760 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141202	7.6211	1732
141201	2.1990	1201

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	98.41	gold quality
left testis	UBERON:0004533	98.39	gold quality
testis	UBERON:0000473	97.80	gold quality
right adrenal gland cortex	UBERON:0035827	96.05	gold quality
right adrenal gland	UBERON:0001233	95.72	gold quality
left adrenal gland cortex	UBERON:0035825	95.69	gold quality
left adrenal gland	UBERON:0001234	95.41	gold quality
adrenal gland	UBERON:0002369	94.25	gold quality
left ovary	UBERON:0002119	93.66	gold quality
ovary	UBERON:0000992	93.20	gold quality
right ovary	UBERON:0002118	93.10	gold quality
adrenal tissue	UBERON:0018303	92.98	gold quality
substantia nigra	UBERON:0002038	91.04	gold quality
hypothalamus	UBERON:0001898	91.02	gold quality
stromal cell of endometrium	CL:0002255	90.92	gold quality
putamen	UBERON:0001874	90.71	gold quality
temporal lobe	UBERON:0001871	90.55	gold quality
amygdala	UBERON:0001876	90.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.51	gold quality
anterior cingulate cortex	UBERON:0009835	90.29	gold quality
mucosa of transverse colon	UBERON:0004991	90.27	gold quality
caudate nucleus	UBERON:0001873	90.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.02	gold quality
cerebellar hemisphere	UBERON:0002245	90.01	gold quality
cerebellar cortex	UBERON:0002129	89.93	gold quality
cerebellum	UBERON:0002037	89.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.85	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.81	gold quality
Ammon’s horn	UBERON:0001954	89.75	gold quality
right frontal lobe	UBERON:0002810	89.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.56
E-GEOD-110499	no	154.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting IFI27L1, 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-219A-5P	99.91	73.36	735
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-338-3P	98.14	67.38	1137

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifi27.6	ENSDARG00000074754
danio_rerio	ifi27.4	ENSDARG00000078389

Paralogs (3): IFI27L2 (ENSG00000119632), IFI6 (ENSG00000126709), IFI27 (ENSG00000165949)

Protein

Protein identifiers

Interferon alpha-inducible protein 27-like protein 1 — Q96BM0 (reviewed: Q96BM0)

Alternative names: Interferon-stimulated gene 12c protein

All UniProt accessions (8): Q96BM0, G3V248, G3V2F0, G3V349, G3V3W3, G3V460, G3V4A1, G3V585

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the apoptotic process and has a pro-apoptotic activity.

Subcellular location. Membrane.

Induction. Not up-regulated by type-I interferon.

Similarity. Belongs to the IFI6/IFI27 family.

RefSeq proteins (2): NP_660292, NP_996832* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009311	IFI6/IFI27-like	Family
IPR038213	IFI6/IFI27-like_sf	Homologous_superfamily

Pfam: PF06140

UniProt features (14 total): strand 4, helix 4, transmembrane region 3, chain 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2LOQ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BM0-F1	59.46	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, chr14q32, ZHAN_MULTIPLE_MYELOMA_CD1_VS_CD2_UP, GOCC_ORGANELLE_ENVELOPE, FEVR_CTNNB1_TARGETS_UP, FORTSCHEGGER_PHF8_TARGETS_DN, GSE13547_CTRL_VS_ANTI_IGM_STIM_ZFX_KO_BCELL_2H_DN, CEBPZ_TARGET_GENES, GSE13547_WT_VS_ZFX_KO_BCELL_UP, HSD17B8_TARGET_GENES, ID1_TARGET_GENES, UBN1_TARGET_GENES, ZNF708_TARGET_GENES

GO Biological Process (2): apoptotic process (GO:0006915), intrinsic apoptotic signaling pathway (GO:0097193)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (2): mitochondrial membrane (GO:0031966), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic signaling pathway	2
binding	2
programmed cell death	1
execution phase of apoptosis	1
intracellular signal transduction	1
molecular_function	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFI27L1	IFIT1B	Q5T764	586
IFI27L1	IFITM5	A6NNB3	515
IFI27L1	IFIT5	Q13325	498
IFI27L1	IFI35	P80217	490
IFI27L1	IFI30	P13284	482
IFI27L1	IFI44L	Q53G44	447
IFI27L1	IFI44	Q8TCB0	446
IFI27L1	IGLL1	P15814	432
IFI27L1	IFITM1	P13164	428
IFI27L1	IFIT1	P09914	415
IFI27L1	JCHAIN	P01591	395
IFI27L1	OASL	Q15646	384
IFI27L1	OAS1	P00973	376
IFI27L1	IRF2	P14316	374
IFI27L1	GBP1	P32455	370

IntAct

5 interactions, top by confidence:

A	B	Type	Score
RHBDD2	IFI27L1	psi-mi:“MI:0915”(physical association)	0.560
IFI27L1	KIF1C	psi-mi:“MI:0914”(association)	0.350
IFI27L1	RHBDD2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (65): IFI27L1 (Two-hybrid), SNIP1 (Affinity Capture-MS), CWC25 (Affinity Capture-MS), TFIP11 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), MFAP1 (Affinity Capture-MS), UTP11L (Affinity Capture-MS), WBP11 (Affinity Capture-MS), C11orf57 (Affinity Capture-MS), DIDO1 (Affinity Capture-MS), CCDC59 (Affinity Capture-MS), BPTF (Affinity Capture-MS), DCAF13 (Affinity Capture-MS), RBM15B (Affinity Capture-MS), KIF1C (Affinity Capture-MS)

ESM2 similar proteins: A0A348G5V9, A0A8U0LTY4, A0L9X3, A5H1G9, B2MVM5, B3A0M9, C0HL87, C0HLR2, O26106, O26107, O31557, O80298, O96059, P03625, P03674, P09912, P0DSK5, P0DSK6, P0DTW2, P0DY15, P11128, P34327, P34677, P40305, P40843, P82818, P82827, P82846, P86016, P86018, P86155, Q18EC3, Q22252, Q24JY7, Q28808, Q2W8J4, Q2W8R7, Q2W8S0, Q47108, Q6IED8

Diamond homologs: P09912, P40305, Q28808, Q6IED8, Q8R412, Q8VC49, Q96BM0, Q24JY7, Q9H2X8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1217 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94081445:GTAAC:G	donor_gain	1.0000
14:94081450:G:GG	donor_gain	1.0000
14:94081446:TAAC:T	donor_gain	0.9900
14:94081448:ACG:A	donor_loss	0.9900
14:94081449:CGTAA:C	donor_loss	0.9900
14:94081450:GTAAG:G	donor_loss	0.9900
14:94081451:TAAG:T	donor_loss	0.9900
14:94081452:AAG:A	donor_loss	0.9900
14:94101812:A:AG	acceptor_gain	0.9900
14:94101813:G:GG	acceptor_gain	0.9900
14:94101813:GTT:G	acceptor_gain	0.9900
14:94101972:GTGG:G	donor_gain	0.9900
14:94081453:AGTTT:A	donor_loss	0.9800
14:94101974:GG:G	donor_gain	0.9800
14:94101975:GG:G	donor_gain	0.9800
14:94081444:A:AG	donor_gain	0.9700
14:94081447:AAC:A	donor_gain	0.9700
14:94081448:AC:A	donor_gain	0.9700
14:94096804:A:AG	acceptor_gain	0.9600
14:94096805:G:GG	acceptor_gain	0.9600
14:94096948:A:T	donor_gain	0.9600
14:94101813:GTTGT:G	acceptor_gain	0.9500
14:94101971:AGTGG:A	donor_loss	0.9500
14:94101974:GGGT:G	donor_loss	0.9500
14:94101976:GT:G	donor_loss	0.9500
14:94101977:T:TC	donor_loss	0.9500
14:94101978:GA:G	donor_loss	0.9500
14:94101979:AGTGT:A	donor_loss	0.9500
14:94101980:G:C	donor_loss	0.9500
14:94102038:G:T	donor_gain	0.9500

AlphaMissense

638 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:94101858:T:C	F36L	0.989
14:94101860:C:A	F36L	0.989
14:94101860:C:G	F36L	0.989
14:94101859:T:G	F36C	0.940
14:94101859:T:C	F36S	0.936
14:94101948:A:C	S66R	0.928
14:94101950:T:A	S66R	0.928
14:94101950:T:G	S66R	0.928
14:94101905:G:A	M51I	0.894
14:94101905:G:C	M51I	0.894
14:94101905:G:T	M51I	0.894
14:94101855:G:C	G35R	0.893
14:94101968:G:C	Q72H	0.878
14:94101968:G:T	Q72H	0.878
14:94101874:T:C	I41T	0.866
14:94101886:C:T	S45F	0.866
14:94101855:G:T	G35C	0.840
14:94100768:G:A	G20R	0.838
14:94100768:G:C	G20R	0.838
14:94101892:C:A	A47E	0.837
14:94101858:T:G	F36V	0.834
14:94101916:C:A	A55D	0.834
14:94101858:T:A	F36I	0.833
14:94101975:G:T	G75W	0.826
14:94101886:C:A	S45Y	0.820
14:94101874:T:G	I41S	0.813
14:94101958:C:A	A69D	0.810
14:94102515:G:C	G88R	0.810
14:94101856:G:T	G35V	0.806
14:94102522:C:A	A90D	0.803

dbSNP variants (sampled 300 via entrez): RS1000116595 (14:94085045 C>T), RS1000250016 (14:94079754 A>G), RS1000329857 (14:94091272 G>A), RS1000489783 (14:94085894 G>A,C), RS1000500249 (14:94096324 T>G), RS1000611809 (14:94089632 A>G), RS1000721178 (14:94089953 G>A,C), RS1000764171 (14:94084459 G>A), RS1000789202 (14:94091602 T>C), RS1000792585 (14:94096126 C>G), RS1000816832 (14:94084703 T>G), RS1000836233 (14:94085542 C>G), RS1000846741 (14:94096404 C>T), RS1000870243 (14:94102433 C>G,T), RS1001323571 (14:94102224 C>A,G,T)

Disease associations

OMIM: gene MIM:611320 | 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
GCST000327_9	Anthropometric traits	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004302	anthropometric measurement
EFO:0004338	body weight

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation	2
aristolochic acid I	increases expression	1
ICG 001	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Tunicamycin	increases expression	1
Cyclosporine	affects expression	1
Asbestos, Crocidolite	increases expression	1

Clinical trials (associated diseases)

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