IFITM1

interferon induced transmembrane protein 1, the group of CD molecules|Interferon induced transmembrane proteins

Basic information

Region (hg38): 11:310041-315272

Previous symbols: [ "IFI17" ]

Links

ENSG00000185885

∙ NCBI:8519 ∙ OMIM:604456 ∙ HGNC:5412 ∙ Uniprot:P13164 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFITM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFITM1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			3 clinvar	2 clinvar		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	2	0

Variants in IFITM1

This is a list of pathogenic ClinVar variants found in the IFITM1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
11-314253-A-G	not specified	Likely benign (Aug 02, 2021)	2365736
11-314297-A-G	not specified	Uncertain significance (Feb 08, 2025)	3859503
11-314965-C-A	not specified	Uncertain significance (Sep 12, 2024)	3527720
11-315044-A-C	not specified	Likely benign (Sep 03, 2024)	3527719
11-315095-G-C	not specified	Uncertain significance (Jun 26, 2023)	2589411
11-315102-C-T	not specified	Uncertain significance (Aug 02, 2021)	2240821

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFITM1	protein_coding	protein_coding	ENST00000408968	2	1767

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.136	0.637	124776	0	2	124778	0.00000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.225	68	73.4	0.926	0.00000368	809
Missense in Polyphen		4	6.417	0.62335		65
Synonymous	-2.01	47	32.4	1.45	0.00000181	260
Loss of Function	0.565	1	1.82	0.548	7.79e-8	19

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein- mediated viral entry, MARV and EBOV GP1,2-mediated viral entry and SARS-CoV S protein-mediated viral entry. Also implicated in cell adhesion and control of cell growth and migration. Plays a key role in the antiproliferative action of IFN-gamma either by inhibiting the ERK activation or by arresting cell growth in G1 phase in a p53-dependent manner. Acts as a positive regulator of osteoblast differentiation. {ECO:0000269|PubMed:16847454, ECO:0000269|PubMed:20064371, ECO:0000269|PubMed:20838853, ECO:0000269|PubMed:21177806, ECO:0000269|PubMed:21253575, ECO:0000269|PubMed:21976647, ECO:0000269|PubMed:22479637, ECO:0000269|PubMed:22634173}.;
Pathway: B cell receptor signaling pathway - Homo sapiens (human);The human immune response to tuberculosis;Cytokine Signaling in Immune system;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;BCR;Interferon alpha/beta signaling;Interferon Signaling (Consensus)

Recessive Scores

pRec: 0.0904

Intolerance Scores

loftool
rvis_EVS: -0.36
rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

pHI: 0.538
hipred: N
hipred_score: 0.166
ghis: 0.586

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.741

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Ifitm1
Phenotype: homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process: ossification;cell surface receptor signaling pathway;negative regulation of cell population proliferation;response to virus;negative regulation of cell migration;response to interferon-gamma;response to interferon-alpha;response to interferon-beta;negative regulation of viral genome replication;positive regulation of osteoblast differentiation;negative regulation of viral entry into host cell;regulation of immune response;defense response to virus;type I interferon signaling pathway
Cellular component: plasma membrane;membrane;integral component of membrane;protein-containing complex
Molecular function: protein binding