IFIT1B

Summary

IFIT1B (interferon induced protein with tetratricopeptide repeats 1B, HGNC:23442) is a protein-coding gene on chromosome 10q23.31, encoding Protein IFIT1 homolog B (Q5T764). IFIT1B is likely non-functional, lacking the critical antiviral role of IFIT1.

Predicted to enable RNA binding activity. Predicted to be involved in defense response to virus. Predicted to act upstream of or within cellular response to interferon-alpha; cellular response to interferon-beta; and response to bacterium. Predicted to be located in cytoplasm. Predicted to be active in cytosol.

Source: NCBI Gene 439996 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_001010987

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23442
Approved symbol	IFIT1B
Name	interferon induced protein with tetratricopeptide repeats 1B
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	bA149I23.6
Ensembl gene	ENSG00000204010
Ensembl biotype	protein_coding
Entrez	439996

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000371809

RefSeq mRNA: 1 — MANE Select: NM_001010987 NM_001010987

CCDS: CCDS31242

Canonical transcript exons

ENST00000371809 — 2 exons

Exon	Start	End
ENSE00001456137	89383319	89385205
ENSE00001456138	89378056	89378140

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 87.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5047 / max 873.1676, expressed in 33 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106142	1.1806	30
106141	0.3241	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	87.64	gold quality
bone marrow	UBERON:0002371	86.70	gold quality
blood	UBERON:0000178	82.53	gold quality
monocyte	CL:0000576	82.09	gold quality
leukocyte	CL:0000738	78.98	gold quality
quadriceps femoris	UBERON:0001377	61.63	gold quality
placenta	UBERON:0001987	60.96	gold quality
cerebellar vermis	UBERON:0004720	58.50	gold quality
thymus	UBERON:0002370	54.67	silver quality
sural nerve	UBERON:0015488	48.77	gold quality
adrenal tissue	UBERON:0018303	46.61	gold quality
spleen	UBERON:0002106	46.37	gold quality
granulocyte	CL:0000094	41.61	silver quality
liver	UBERON:0002107	39.62	gold quality
tonsil	UBERON:0002372	38.65	gold quality
skeletal muscle tissue	UBERON:0001134	38.62	gold quality
right lobe of liver	UBERON:0001114	38.02	gold quality
right lung	UBERON:0002167	37.37	silver quality
ganglionic eminence	UBERON:0004023	37.27	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
lung	UBERON:0002048	37.00	gold quality
corpus callosum	UBERON:0002336	36.49	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.60	gold quality
apex of heart	UBERON:0002098	35.37	gold quality
muscle tissue	UBERON:0002385	34.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	34.01	silver quality
mucosa of stomach	UBERON:0001199	33.73	gold quality
urinary bladder	UBERON:0001255	33.62	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	17.68
E-ANND-3	no	3.11
E-MTAB-9467	no	1.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting IFIT1B, 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-3692-3P	99.98	70.27	2139
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-6512-5P	98.76	69.29	1195
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-7111-3P	97.80	66.75	1467

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifit10	ENSDARG00000007467
danio_rerio	ifit15	ENSDARG00000043584
danio_rerio	ifit16	ENSDARG00000056976
danio_rerio	ifit8	ENSDARG00000057173
danio_rerio	ifit14	ENSDARG00000071012
danio_rerio		ENSDARG00000088069
danio_rerio	ifit11	ENSDARG00000090537
danio_rerio	ifit12	ENSDARG00000090977
mus_musculus	Ifit1	ENSMUSG00000034459
mus_musculus	Ifit1bl2	ENSMUSG00000067297
mus_musculus	Ifit1bl1	ENSMUSG00000079339
rattus_norvegicus	Ifit1	ENSRNOG00000019050
rattus_norvegicus	Ifit1bl	ENSRNOG00000036603

Paralogs (4): IFIT3 (ENSG00000119917), IFIT2 (ENSG00000119922), IFIT5 (ENSG00000152778), IFIT1 (ENSG00000185745)

Protein

Protein identifiers

Protein IFIT1 homolog B — Q5T764 (reviewed: Q5T764)

Alternative names: Interferon-induced protein with tetratricopeptide repeats 1-like protein, Interferon-induced protein with tetratricopeptide repeats 1B

All UniProt accessions (1): Q5T764

UniProt curated annotations — full annotation on UniProt →

Function. IFIT1B is likely non-functional, lacking the critical antiviral role of IFIT1. Unlike IFIT1, which is essential in the innate immune response as part of an interferon-dependent multiprotein complex, IFIT1B does not prevent the translation of viral RNAs that lack host-specific 2’-O-methylation at their 5’ cap. Consequently, it probably cannot inhibit their translation by competing with the host translation machinery.

Similarity. Belongs to the IFIT family.

RefSeq proteins (1): NP_001010987* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat

Pfam: PF13176, PF13181

UniProt features (12 total): repeat 10, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T764-F1	93.41	0.85

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 171 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_DN, HASEGAWA_TUMORIGENESIS_BY_RET_C634R, JECHLINGER_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_UP, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GOBP_DEFENSE_RESPONSE_TO_VIRUS, RASHI_RESPONSE_TO_IONIZING_RADIATION_6, HAN_JNK_SINGALING_UP

GO Biological Process (2): defense response to virus (GO:0051607), response to other organism (GO:0051707)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (1): cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	1
response to virus	1
response to external biotic stimulus	1
biological process involved in interspecies interaction between organisms	1
nucleic acid binding	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFIT1B	MX1	P20591	673
IFIT1B	IFI27L1	Q96BM0	586
IFIT1B	RSAD2	Q8WXG1	518
IFIT1B	OAS1	P00973	515
IFIT1B	IFI27	P40305	484
IFIT1B	IFI44	Q8TCB0	480
IFIT1B	IFI44L	Q53G44	477
IFIT1B	ISG15	P05161	472
IFIT1B	IFITM5	A6NNB3	471
IFIT1B	IFIH1	Q9BYX4	468
IFIT1B	OASL	Q15646	461
IFIT1B	IFI35	P80217	461
IFIT1B	IFI6	P09912	445
IFIT1B	HMGXB4	Q9UGU5	440
IFIT1B	IRF7	Q92985	440

IntAct

12 interactions, top by confidence:

A	B	Type	Score
IFIT1	IFIT3	psi-mi:“MI:0914”(association)	0.920
IFIT3	IFIT1B	psi-mi:“MI:0915”(physical association)	0.670
IFIT1B	MAP1A	psi-mi:“MI:0914”(association)	0.350
CRY1	IGKV2D-30	psi-mi:“MI:0914”(association)	0.350
IFIT3	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
IFIT1	PCCA	psi-mi:“MI:0914”(association)	0.350
IFIT1B	IFIT3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): HERC1 (Affinity Capture-MS), MOCOS (Affinity Capture-MS), DHX38 (Affinity Capture-MS), MAP1A (Affinity Capture-MS), IFIT1B (Two-hybrid), HERC1 (Affinity Capture-MS), MOCOS (Affinity Capture-MS), MAP1A (Affinity Capture-MS), IFIT1B (Positive Genetic), IFIT1B (Affinity Capture-MS), IFIT1B (Affinity Capture-MS), IFIT1B (Affinity Capture-MS)

ESM2 similar proteins: A2AQW0, A2VE39, D2HRF1, E1BVR9, E7F590, F1ND48, F1QWA8, F4IDS7, F4IVI0, O02697, O35099, O94952, P09914, P42338, P48736, Q13325, Q21029, Q3V3E1, Q4R3W5, Q4R5F5, Q5F204, Q5IH14, Q5R5S1, Q5R981, Q5T764, Q5T8I9, Q5U2Z5, Q6DFJ6, Q6NX27, Q6YXW6, Q80V94, Q8BTI9, Q8N1G2, Q8VZM1, Q91XL9, Q94E75, Q99683, Q99MV5, Q9BPX3, Q9BXW6

Diamond homologs: A5A6J9, O14879, P09913, P09914, Q13325, Q4R5F5, Q5T764, Q60462, Q64112, Q64282, Q64345

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

140 predictions. Top by Δscore:

Variant	Effect	Δscore
10:89383317:A:AG	acceptor_gain	1.0000
10:89383318:G:GA	acceptor_gain	1.0000
10:89383318:GT:G	acceptor_gain	1.0000
10:89383318:GTGAA:G	acceptor_gain	1.0000
10:89378138:GAG:G	donor_gain	0.9900
10:89378138:GAGGT:G	donor_loss	0.9900
10:89378139:AGGTA:A	donor_loss	0.9900
10:89378140:GGTA:G	donor_loss	0.9900
10:89378141:G:GA	donor_loss	0.9900
10:89378142:T:A	donor_loss	0.9800
10:89383313:TTACA:T	acceptor_loss	0.9800
10:89383316:C:G	acceptor_gain	0.9800
10:89383317:A:AC	acceptor_loss	0.9800
10:89383318:G:A	acceptor_loss	0.9800
10:89383318:GTGA:G	acceptor_gain	0.9800
10:89378141:G:GG	donor_gain	0.9700
10:89383317:AGT:A	acceptor_gain	0.9700
10:89383318:GTG:G	acceptor_gain	0.9700
10:89378138:G:GT	donor_gain	0.9600
10:89383315:A:AG	acceptor_gain	0.9300
10:89383310:T:G	acceptor_gain	0.8800
10:89378137:TGAG:T	donor_gain	0.8600
10:89382533:T:G	donor_gain	0.8400
10:89378136:ATGAG:A	donor_gain	0.8200
10:89383309:A:AG	acceptor_gain	0.8200
10:89383319:T:TA	acceptor_gain	0.8000
10:89378139:AG:A	donor_gain	0.7700
10:89378140:GG:G	donor_gain	0.7700
10:89380541:A:AG	donor_gain	0.7700
10:89382473:TCCC:T	donor_gain	0.7600

AlphaMissense

3143 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:89383374:T:C	F21L	0.958
10:89383376:T:A	F21L	0.958
10:89383376:T:G	F21L	0.958
10:89384472:T:C	F387L	0.938
10:89384474:C:A	F387L	0.938
10:89384474:C:G	F387L	0.938
10:89384091:T:C	F260L	0.936
10:89384093:T:A	F260L	0.936
10:89384093:T:G	F260L	0.936
10:89383803:T:C	F164L	0.923
10:89383805:T:A	F164L	0.923
10:89383805:T:G	F164L	0.923
10:89383613:C:A	N100K	0.920
10:89383613:C:G	N100K	0.920
10:89383382:G:C	W23C	0.892
10:89383382:G:T	W23C	0.892
10:89384643:G:T	G444W	0.892
10:89383620:T:A	W103R	0.885
10:89383620:T:C	W103R	0.885
10:89384400:T:C	F363L	0.877
10:89384402:T:A	F363L	0.877
10:89384402:T:G	F363L	0.877
10:89383545:G:C	A78P	0.875
10:89383618:C:A	A102D	0.875
10:89384643:G:A	G444R	0.869
10:89384643:G:C	G444R	0.869
10:89383380:T:A	W23R	0.864
10:89383380:T:C	W23R	0.864
10:89383993:T:C	L227P	0.854
10:89384098:G:C	R262P	0.846

dbSNP variants (sampled 300 via entrez): RS1000335720 (10:89385243 C>G), RS1000440631 (10:89379240 C>T), RS1000504924 (10:89385482 C>T), RS1000633006 (10:89378862 T>C), RS1000730795 (10:89379501 G>A,C), RS1001891148 (10:89380304 A>G), RS1002549954 (10:89383525 C>G,T), RS1002763290 (10:89381320 G>A), RS1003508591 (10:89382047 G>C), RS1003560156 (10:89381753 C>T), RS1003782808 (10:89376538 G>A), RS1004183499 (10:89381381 C>T), RS1004801306 (10:89381727 G>A), RS1005177408 (10:89380409 G>A), RS1005368333 (10:89377758 A>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:620151

GenCC curated gene-disease

Mondo (1): Wolman disease (MONDO:0019148)

Orphanet (1): Wolman disease (Orphanet:75233)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015223	Wolman Disease	C16.320.565.398.641.201.500; C16.320.565.595.201.500; C16.614.947; C18.452.584.563.641.201.500; C18.452.648.398.641.201.500; C18.452.648.595.201.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01757184	PHASE3	COMPLETED	Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01488097	PHASE2	COMPLETED	Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency
NCT02112994	PHASE2	COMPLETED	Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency
NCT02193867	PHASE2	TERMINATED	Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT04532047	PHASE1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT01371825	PHASE2/PHASE3	COMPLETED	Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
NCT01307098	PHASE1/PHASE2	COMPLETED	Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT01358370	Not specified	COMPLETED	A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
NCT01528917	Not specified	COMPLETED	An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
NCT01633489	Not specified	RECRUITING	Lysosomal Acid Lipase (LAL) Deficiency Registry
NCT01716728	Not specified	UNKNOWN	Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
NCT01884220	Not specified	COMPLETED	Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
NCT02345421	Not specified	TERMINATED	A Study to Identify and Characterize LAL-D Patients in High-risk Populations
NCT02376751	Not specified	NO_LONGER_AVAILABLE	An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency
NCT02926872	Not specified	TERMINATED	Screening for Lysosomal Acid Lipase Deficiency
NCT03564002	Not specified	UNKNOWN	Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03984149	Not specified	UNKNOWN	Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)
NCT04652713	Not specified	COMPLETED	Breakfast for Young Women
NCT04792671	Not specified	UNKNOWN	Prevalence and Risk Factors of Women Mental Health Disorders
NCT05368038	Not specified	ENROLLING_BY_INVITATION	ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
NCT05619900	Not specified	RECRUITING	Registry of Patients Diagnosed With Lysosomal Storage Diseases
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06287658	Not specified	UNKNOWN	The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence
NCT07455864	Not specified	RECRUITING	Lysosomal Acid Lipase Deficiency in Risk Groups