FITM1

Summary

FITM1 (fat storage inducing transmembrane protein 1, HGNC:33714) is a protein-coding gene on chromosome 14q12, encoding Fat storage-inducing transmembrane protein 1 (A5D6W6). Plays an important role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis.

Predicted to enable diacylglycerol binding activity and triglyceride binding activity. Predicted to be involved in fat cell differentiation; lipid droplet formation; and phospholipid biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane.

Source: NCBI Gene 161247 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 70 total
• MANE Select transcript: NM_203402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33714
Approved symbol	FITM1
Name	fat storage inducing transmembrane protein 1
Location	14q12
Locus type	gene with protein product
Status	Approved
Aliases	FIT1
Ensembl gene	ENSG00000139914
Ensembl biotype	protein_coding
OMIM	612028
Entrez	161247

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000267426, ENST00000559294

RefSeq mRNA: 1 — MANE Select: NM_203402 NM_203402

CCDS: CCDS9611

Canonical transcript exons

ENST00000267426 — 2 exons

Exon	Start	End
ENSE00000940738	24132211	24132847
ENSE00001421592	24130659	24131829

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 98.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.3892 / max 541.7037, expressed in 140 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138984	2.0639	113
138986	0.7725	62
138983	0.2017	44
138985	0.1925	45
138980	0.0689	20
138987	0.0580	16
138981	0.0201	13
138982	0.0116	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.68	gold quality
apex of heart	UBERON:0002098	98.22	gold quality
gastrocnemius	UBERON:0001388	96.69	gold quality
heart left ventricle	UBERON:0002084	96.53	gold quality
right atrium auricular region	UBERON:0006631	96.20	gold quality
skeletal muscle tissue	UBERON:0001134	95.76	gold quality
skeletal muscle organ	UBERON:0014892	95.07	gold quality
muscle of leg	UBERON:0001383	95.05	gold quality
heart	UBERON:0000948	91.54	gold quality
right lobe of liver	UBERON:0001114	87.01	gold quality
muscle tissue	UBERON:0002385	82.35	gold quality
liver	UBERON:0002107	80.54	gold quality
body of pancreas	UBERON:0001150	79.44	gold quality
spleen	UBERON:0002106	78.06	gold quality
left adrenal gland	UBERON:0001234	75.72	gold quality
left adrenal gland cortex	UBERON:0035825	75.54	gold quality
right adrenal gland	UBERON:0001233	74.67	gold quality
right adrenal gland cortex	UBERON:0035827	73.64	gold quality
adrenal gland	UBERON:0002369	73.32	gold quality
granulocyte	CL:0000094	72.27	gold quality
mucosa of transverse colon	UBERON:0004991	72.23	gold quality
lower esophagus mucosa	UBERON:0035834	71.78	gold quality
blood	UBERON:0000178	70.64	gold quality
pancreas	UBERON:0001264	66.80	gold quality
adrenal tissue	UBERON:0018303	66.80	gold quality
minor salivary gland	UBERON:0001830	66.26	gold quality
leukocyte	CL:0000738	65.78	gold quality
saliva-secreting gland	UBERON:0001044	65.65	gold quality
monocyte	CL:0000576	65.56	gold quality
metanephros cortex	UBERON:0010533	64.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.95

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	fitm1l	ENSDARG00000056464
danio_rerio		ENSDARG00000108683
mus_musculus	Fitm1	ENSMUSG00000022215
rattus_norvegicus	Fitm1	ENSRNOG00000019019
drosophila_melanogaster	Fitm	FBGN0035586
caenorhabditis_elegans	fitm-2	WBGENE00044094

Paralogs (1): FITM2 (ENSG00000197296)

Protein

Protein identifiers

Fat storage-inducing transmembrane protein 1 — A5D6W6 (reviewed: A5D6W6)

Alternative names: Fat-inducing protein 1

All UniProt accessions (1): A5D6W6

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis. Directly binds to diacylglycerol (DAGs) and triacylglycerol.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Primarily expressed in heart and skeletal muscle.

Similarity. Belongs to the FIT family. FIT1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
A5D6W6-1	1	yes
A5D6W6-2	2

RefSeq proteins (1): NP_981947* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019388	FIT	Family
IPR046401	FITM1/2	Family
IPR046402	FIT1	Family

UniProt features (20 total): topological domain 8, transmembrane region 7, active site 2, chain 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A5D6W6-F1	85.54	0.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 186; 244; 248 (important for catalytic activity)

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8964572	Lipid particle organization

MSigDB gene sets: 80 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, AREB6_03, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MEF2_02, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, chr14q12, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, TGIF_01, GOBP_ORGANELLE_ASSEMBLY, GOBP_LIPID_METABOLIC_PROCESS, GOBP_FAT_CELL_DIFFERENTIATION

GO Biological Process (6): phospholipid biosynthetic process (GO:0008654), lipid storage (GO:0019915), lipid droplet organization (GO:0034389), fat cell differentiation (GO:0045444), lipid droplet formation (GO:0140042), lipid metabolic process (GO:0006629)

GO Molecular Function (5): coenzyme A diphosphatase activity (GO:0010945), triglyceride binding (GO:0017129), diacylglycerol binding (GO:0019992), endoplasmic reticulum-lipid droplet tether activity (GO:0170007), molecular_function (GO:0003674)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid binding	2
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
nutrient storage	1
organelle organization	1
cell differentiation	1
lipid storage	1
lipid droplet organization	1
membraneless organelle assembly	1
primary metabolic process	1
pyrophosphatase activity	1
protein-membrane adaptor activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

662 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FITM1	CIDEC	Q96AQ7	507
FITM1	BSCL2	Q96G97	504
FITM1	LRRC39	Q96DD0	471
FITM1	ERLIN2	O94905	460
FITM1	PLIN5	Q00G26	450
FITM1	MOGAT1	Q96PD6	427
FITM1	ITGB1BP2	Q9UKP3	424
FITM1	PLIN2	Q99541	422
FITM1	G0S2	P27469	419
FITM1	CILP2	Q8IUL8	418
FITM1	PLA2G4C	Q9UP65	418
FITM1	PLIN4	Q96Q06	414
FITM1	FABP3	P05413	411
FITM1	CENPT	Q96BT3	410
FITM1	ENHO	Q6UWT2	401

IntAct

0 interactions, top by confidence:

BioGRID (1): APP (Reconstituted Complex)

ESM2 similar proteins: A0AAS4, A0JP80, A4II83, A5D6W6, A7YWN2, B2MVP8, D4AD75, O04928, O42153, O42154, O49639, O64761, O70536, P0CW70, P23501, P47013, P53223, P53439, Q06676, Q0VFE3, Q1LW89, Q1LZA4, Q20696, Q20735, Q52KL1, Q568I2, Q5CZ37, Q5CZN0, Q68EV0, Q6AX73, Q6NUT2, Q7K0P4, Q7T3T4, Q7TN73, Q7TSN4, Q7TSX5, Q7Z7B1, Q810K3, Q86IX2, Q86VZ5

Diamond homologs: A0JP80, A4IFN5, A5D6W6, A7YWN2, B2LYG4, B2MVP8, P59266, Q06676, Q52KL1, Q6AX73, Q8N6M3, Q91V79, Q9HGM4, Q9VRJ2, Q5CZN0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

301 predictions. Top by Δscore:

Variant	Effect	Δscore
14:24131826:ACATG:A	donor_loss	1.0000
14:24131827:CATGT:C	donor_loss	1.0000
14:24131828:ATGTG:A	donor_loss	1.0000
14:24131829:TG:T	donor_loss	1.0000
14:24131830:G:C	donor_loss	1.0000
14:24131830:G:GG	donor_gain	1.0000
14:24131825:AACAT:A	donor_gain	0.9900
14:24131826:ACAT:A	donor_gain	0.9900
14:24131827:CAT:C	donor_gain	0.9900
14:24131828:AT:A	donor_gain	0.9900
14:24131831:T:A	donor_loss	0.9900
14:24131832:G:GT	donor_loss	0.9900
14:24132209:A:AG	acceptor_gain	0.9900
14:24132210:G:GG	acceptor_gain	0.9900
14:24132210:GAA:G	acceptor_gain	0.9900
14:24132210:GAAA:G	acceptor_gain	0.9900
14:24132270:T:A	acceptor_gain	0.9900
14:24132207:ACAG:A	acceptor_loss	0.9800
14:24132208:CA:C	acceptor_loss	0.9800
14:24132209:A:C	acceptor_loss	0.9800
14:24132210:G:A	acceptor_loss	0.9800
14:24132210:GA:G	acceptor_gain	0.9800
14:24132210:GAAAA:G	acceptor_gain	0.9800
14:24131340:G:GT	donor_gain	0.9400
14:24132202:T:TA	acceptor_gain	0.9400
14:24131383:G:GA	donor_gain	0.9200
14:24132207:A:AG	acceptor_gain	0.9200
14:24131369:G:GT	donor_gain	0.9100
14:24132208:C:G	acceptor_gain	0.8900
14:24132273:T:TA	acceptor_gain	0.8900

AlphaMissense

1845 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:24132478:G:C	W178C	0.999
14:24132478:G:T	W178C	0.999
14:24132392:G:T	G150C	0.997
14:24132543:A:T	E200V	0.997
14:24132710:G:C	G256R	0.997
14:24131818:C:A	N85K	0.996
14:24131818:C:G	N85K	0.996
14:24132236:T:A	W98R	0.996
14:24132236:T:C	W98R	0.996
14:24132455:T:A	C171S	0.996
14:24132456:G:C	C171S	0.996
14:24132608:T:C	F222L	0.996
14:24132610:C:A	F222L	0.996
14:24132610:C:G	F222L	0.996
14:24132638:T:A	W232R	0.996
14:24132638:T:C	W232R	0.996
14:24132643:C:A	N233K	0.996
14:24132643:C:G	N233K	0.996
14:24132711:G:A	G256D	0.996
14:24132398:T:A	C152S	0.995
14:24132399:G:A	C152Y	0.995
14:24132399:G:C	C152S	0.995
14:24132400:C:G	C152W	0.995
14:24132476:T:A	W178R	0.995
14:24132476:T:C	W178R	0.995
14:24132698:G:C	G252R	0.995
14:24132230:T:A	W96R	0.994
14:24132230:T:C	W96R	0.994
14:24132335:G:A	G131R	0.994
14:24132335:G:C	G131R	0.994

dbSNP variants (sampled 300 via entrez): RS1000129518 (14:24132653 C>G), RS1001389846 (14:24130008 C>CA), RS1003553842 (14:24129133 A>G), RS1004239950 (14:24129451 A>G), RS1004289036 (14:24131674 CT>C), RS1004838199 (14:24130759 A>G), RS1004904112 (14:24132108 C>G,T), RS1005632794 (14:24133197 G>A,T), RS1005718752 (14:24128976 A>T), RS1006605696 (14:24133329 T>A), RS1007356796 (14:24129093 G>A), RS1007736057 (14:24128862 C>G,T), RS1008233662 (14:24130323 C>T), RS1008526436 (14:24129289 A>G), RS1008705086 (14:24129813 A>G)

Disease associations

OMIM: gene MIM:612028 | 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

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Doxorubicin	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
methyleugenol	decreases expression	1
clothianidin	increases expression	1
abrine	decreases expression	1
licochalcone B	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Estradiol	decreases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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