UFC1

Summary

UFC1 (ubiquitin-fold modifier conjugating enzyme 1, HGNC:26941) is a protein-coding gene on chromosome 1q23.3, encoding Ubiquitin-fold modifier-conjugating enzyme 1 (Q9Y3C8). E2-like enzyme which specifically catalyzes the second step in ufmylation. It is a selective cancer dependency (DepMap: 16.1% of cell lines).

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).

Source: NCBI Gene 51506 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with spasticity and poor growth (Strong, GenCC)
• Clinical variants (ClinVar): 42 total — 2 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 69
• Cancer dependency (DepMap): dependent in 16.1% of screened cell lines
• MANE Select transcript: NM_016406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26941
Approved symbol	UFC1
Name	ubiquitin-fold modifier conjugating enzyme 1
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	HSPC155
Ensembl gene	ENSG00000143222
Ensembl biotype	protein_coding
OMIM	610554
Entrez	51506

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding_CDS_not_defined, 4 protein_coding

ENST00000368003, ENST00000463735, ENST00000467540, ENST00000473766, ENST00000482672, ENST00000483191, ENST00000913804, ENST00000913805, ENST00000913806

RefSeq mRNA: 1 — MANE Select: NM_016406 NM_016406

CCDS: CCDS1220

Canonical transcript exons

ENST00000368003 — 6 exons

Exon	Start	End
ENSE00001132682	161158121	161158211
ENSE00001446104	161158412	161158856
ENSE00001446105	161153978	161154120
ENSE00003460292	161157617	161157693
ENSE00003546598	161156950	161157017
ENSE00003594013	161157254	161157317

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 88.6973 / max 1021.5182, expressed in 1827 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6208	78.2441	1826
6205	9.2845	1747
6207	0.9745	594
6206	0.1942	79

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.66	gold quality
epithelium of bronchus	UBERON:0002031	99.64	gold quality
bronchus	UBERON:0002185	99.57	gold quality
right uterine tube	UBERON:0001302	99.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.07	gold quality
epithelium of nasopharynx	UBERON:0001951	98.96	gold quality
body of pancreas	UBERON:0001150	98.90	gold quality
caudate nucleus	UBERON:0001873	98.53	gold quality
islet of Langerhans	UBERON:0000006	98.52	gold quality
pancreas	UBERON:0001264	98.50	gold quality
nucleus accumbens	UBERON:0001882	98.49	gold quality
body of stomach	UBERON:0001161	98.48	gold quality
rectum	UBERON:0001052	98.47	gold quality
left ovary	UBERON:0002119	98.47	gold quality
pituitary gland	UBERON:0000007	98.42	gold quality
adenohypophysis	UBERON:0002196	98.42	gold quality
nasal cavity epithelium	UBERON:0005384	98.40	gold quality
left coronary artery	UBERON:0001626	98.33	gold quality
gall bladder	UBERON:0002110	98.32	gold quality
descending thoracic aorta	UBERON:0002345	98.32	gold quality
anterior cingulate cortex	UBERON:0009835	98.32	gold quality
cingulate cortex	UBERON:0003027	98.31	gold quality
right coronary artery	UBERON:0001625	98.30	gold quality
putamen	UBERON:0001874	98.28	gold quality
skin of abdomen	UBERON:0001416	98.27	gold quality
skin of leg	UBERON:0001511	98.20	gold quality
thoracic aorta	UBERON:0001515	98.20	gold quality
right adrenal gland	UBERON:0001233	98.18	gold quality
amygdala	UBERON:0001876	98.18	gold quality
right frontal lobe	UBERON:0002810	98.18	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.25
E-HCAD-1	yes	27.80
E-GEOD-130148	yes	11.86
E-CURD-89	no	426.90
E-CURD-120	no	5.78
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting UFC1, 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-1184	99.99	68.19	1458
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-595	98.25	67.44	699
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-3680-5P	98.06	66.20	394
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-24-1-5P	95.57	65.85	492
HSA-MIR-24-2-5P	95.57	66.16	484

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• Identification of a novel enzyme called UFC1 for Ufm1-conjugating enzyme 1. (PMID:15071506)
• The structure of human Ufc1 was solved by using both NMR spectroscopy and X-ray crystallography (PMID:19101823)
• NCAM140 interacts with ufc1 and its trafficking and endocytosis is upregulated in the presense of Ufm1. (PMID:24726913)
• Uba5 residues 364-404 were demonstrated to be necessary for the transthiolation of Ufm1 to Ufc1, and Uba5 381-404 was identified to be the minimal region for Ufc1 recognition (PMID:25084390)
• Autoantibodies binding to Ufc1 were found in 19 of 29 patients (66%) with active mycobacterial infections. (PMID:25213431)
• UFC1 interact with the mRNA stabilizing protein HuR to increase levels of beta-catenin in hepatocellular carcinoma. (PMID:25449213)
• that UFC1 regulates survival of Osteoarthritis chondrocytes through physically association with miR-34a (PMID:27529373)
• UFC1 has a promoting role in GC progression, at least in part, by acting as a miR-498 sponge and derepressing Lin28b expression, which would provide a novel biomarker for GC diagnosis and prognosis and offer a potential target for GC therapy. (PMID:29970131)
• Exosome-transmitted lncRNA UFC1 promotes non-small-cell lung cancer progression by EZH2-mediated epigenetic silencing of PTEN expression. (PMID:32242003)
• A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1. (PMID:34299007)
• Structural basis for UFM1 transfer from UBA5 to UFC1. (PMID:34588452)
• Dynamical Analysis of a Boolean Network Model of the Oncogene Role of lncRNA ANRIL and lncRNA UFC1 in Non-Small Cell Lung Cancer. (PMID:35327612)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ufc1	ENSDARG00000022340
mus_musculus	Ufc1	ENSMUSG00000062963
rattus_norvegicus	Ufc1	ENSRNOG00000003706
drosophila_melanogaster	Ufc1	FBGN0034061
caenorhabditis_elegans		WBGENE00008041

Protein

Protein identifiers

Ubiquitin-fold modifier-conjugating enzyme 1 — Q9Y3C8 (reviewed: Q9Y3C8)

All UniProt accessions (1): Q9Y3C8

UniProt curated annotations — full annotation on UniProt →

Function. E2-like enzyme which specifically catalyzes the second step in ufmylation. Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage. Ufmylation is involved in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy).

Subunit / interactions. Interacts with UBA5 (via C-terminus). Interacts with UFL1. Interacts with UFM1. Interacts with KIRREL3.

Post-translational modifications. Ufmylated at Lys-122. Deufmylated by UFSP1.

Disease relevance. Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076] An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. In absence of UBA5, the active site is solvated by water molecules thereby reducing its nucleophilic activity. A linker region of UBA5 is required to reduce the amount of water molecules in the vicinity of the active site and elevate its nucleophilic activity.

Similarity. Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily.

RefSeq proteins (1): NP_057490* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014806	Ufc1	Family
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily

Pfam: PF08694

UniProt features (33 total): mutagenesis site 10, helix 7, strand 6, sequence variant 3, sequence conflict 2, turn 2, chain 1, active site 1, cross-link 1

Structure

Experimental structures (PDB)

27 structures.

PDB	Method	Resolution (Å)
9GLH	X-RAY DIFFRACTION	1.11
9GLJ	X-RAY DIFFRACTION	1.21
9GMM	X-RAY DIFFRACTION	1.35
9GLI	X-RAY DIFFRACTION	1.43
9GLO	X-RAY DIFFRACTION	1.53
9I9M	X-RAY DIFFRACTION	1.54
2Z6O	X-RAY DIFFRACTION	1.6
9GLL	X-RAY DIFFRACTION	1.65
9GLP	X-RAY DIFFRACTION	1.77
8BZR	X-RAY DIFFRACTION	1.78
9GLM	X-RAY DIFFRACTION	1.79
2Z6P	X-RAY DIFFRACTION	1.8
9I9N	X-RAY DIFFRACTION	1.88
9IA8	X-RAY DIFFRACTION	1.9
9GLN	X-RAY DIFFRACTION	1.92
7NW1	X-RAY DIFFRACTION	1.95
9GN8	X-RAY DIFFRACTION	1.96
9GMN	X-RAY DIFFRACTION	2
9I9P	X-RAY DIFFRACTION	2.02
9GLK	X-RAY DIFFRACTION	2.03
9I9O	X-RAY DIFFRACTION	2.05
7NVJ	X-RAY DIFFRACTION	2.2
3EVX	X-RAY DIFFRACTION	2.54
8C0D	X-RAY DIFFRACTION	2.56
7NVK	X-RAY DIFFRACTION	2.65
2K07	SOLUTION NMR
7OVC	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3C8-F1	93.56	0.88

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 (1): 116 (glycyl thioester intermediate)

Post-translational modifications (1): 122

Mutagenesis-validated functional residues (10):

Position	Phenotype
47	decreased interaction with ufl1.
50	decreased ribosome ufmylation.
108	abolished ufmylation.
110	decreased ufm1 transfer.
116	instead of the formation of an intermediate complex with a thiol ester bond between ufc1 (e2-like enzyme) and ufm1 (subs
121	decreased ufm1 transfer.
30	does not affect neither uba5-binding nor thioester formation with ufm1.
32	abolished interaction with ufl1.
33	impairs binding to uba5 and thioester formation with ufm1.
40	abolished interaction with ufl1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 304 (showing top): GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_MACROAUTOPHAGY, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_CYTOKINE_PRODUCTION, E4F1_Q6, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, HTF_01, GOBP_HEAD_DEVELOPMENT, ELK1_01, NRF2_01, ACEVEDO_LIVER_CANCER_UP, MORI_MATURE_B_LYMPHOCYTE_DN

GO Biological Process (6): brain development (GO:0007420), regulation of type II interferon production (GO:0032649), response to endoplasmic reticulum stress (GO:0034976), reticulophagy (GO:0061709), protein ufmylation (GO:0071569), protein K69-linked ufmylation (GO:1990592)

GO Molecular Function (3): UFM1 conjugating enzyme activity (GO:0061657), UFM1 transferase activity (GO:0071568), protein binding (GO:0005515)

GO Cellular Component (1): extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
central nervous system development	1
animal organ development	1
head development	1
regulation of cytokine production	1
type II interferon production	1
cellular response to stress	1
macroautophagy	1
protein modification by small protein conjugation	1
protein polyufmylation	1
ubiquitin-like protein conjugating enzyme activity	1
UFM1 transferase activity	1
ubiquitin-like protein transferase activity	1
binding	1
extracellular vesicle	1

Protein interactions and networks

STRING

990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UFC1	UFM1	P61960	991
UFC1	UBA5	Q9GZZ9	990
UFC1	ELAVL1	Q15717	987
UFC1	UFL1	O94874	873
UFC1	UBE2M	P61081	857
UFC1	UFSP2	Q9NUQ7	846
UFC1	DDRGK1	Q96HY6	843
UFC1	UFSP1	Q6NVU6	810
UFC1	CDK5RAP3	Q96JB5	688
UFC1	NRCAM	Q92823	530
UFC1	EZH2	Q15910	523
UFC1	UBB	P02248	522
UFC1	TRIP4	Q15650	503
UFC1	MYC	P01106	500
UFC1	MOCS3	O95396	485

IntAct

50 interactions, top by confidence:

A	B	Type	Score
UBA5	GABARAPL2	psi-mi:“MI:0914”(association)	0.950
CDK5RAP3	UFL1	psi-mi:“MI:0914”(association)	0.870
UFL1	CDK5RAP3	psi-mi:“MI:0914”(association)	0.870
UFC1	CDK5RAP3	psi-mi:“MI:0915”(physical association)	0.760
CDK5RAP3	UFC1	psi-mi:“MI:0407”(direct interaction)	0.760
UFC1	UFL1	psi-mi:“MI:0407”(direct interaction)	0.720
UFC1	UFL1	psi-mi:“MI:0914”(association)	0.720
UFL1	UFC1	psi-mi:“MI:0407”(direct interaction)	0.720
UFL1	DDRGK1	psi-mi:“MI:0914”(association)	0.710
DDRGK1	UFL1	psi-mi:“MI:0914”(association)	0.710
UFL1	DDRGK1	psi-mi:“MI:0915”(physical association)	0.710
CDK5RAP3	UFM1	psi-mi:“MI:0914”(association)	0.670
GEMIN4	UFC1	psi-mi:“MI:0915”(physical association)	0.560
NTAQ1	UFC1	psi-mi:“MI:0915”(physical association)	0.560
UFC1	ANKRD11	psi-mi:“MI:0915”(physical association)	0.560
PRKN	UFC1	psi-mi:“MI:0915”(physical association)	0.560
KIRREL3	UFC1	psi-mi:“MI:0915”(physical association)	0.540
KIRREL3	UFC1	psi-mi:“MI:0403”(colocalization)	0.540
UBA5	GAPDHS	psi-mi:“MI:0914”(association)	0.530

BioGRID (89): UFC1 (Affinity Capture-MS), CAT (Co-fractionation), COX17 (Co-fractionation), ETFA (Co-fractionation), FKBP1A (Co-fractionation), LDHB (Co-fractionation), LYPLA2 (Co-fractionation), NECAP2 (Co-fractionation), NEDD8 (Co-fractionation), TAGLN2 (Co-fractionation), TALDO1 (Co-fractionation), UFC1 (Co-fractionation), UFC1 (Co-fractionation), UFC1 (Co-fractionation), UFC1 (Co-fractionation)

ESM2 similar proteins: A6H795, B3RTL9, B5DEI4, B5X1G6, B9EM04, C1BKD1, C1BZU2, C3ZDX5, O23239, P42743, Q02384, Q07889, Q07890, Q13404, Q15819, Q1JPX4, Q28FC1, Q28IA3, Q32L27, Q3SZ43, Q3SZ52, Q498F8, Q4R5E1, Q4VBH4, Q5E953, Q5F3Z3, Q5R4Z6, Q5R6C9, Q5RE48, Q5XGV8, Q5ZJJ5, Q6BBI8, Q6DEN0, Q6DJ78, Q6PEH5, Q7M767, Q7ZYX1, Q8VDW4, Q90879, Q96B02

Diamond homologs: A2Z5S8, A7SM54, A8Q8J2, A8XAF4, A9UR29, B0WVC4, B3MC02, B3NPZ0, B3RTL9, B4H538, B4HSI1, B4J9W6, B4KQQ4, B4LL39, B4MIX7, B4P6S9, B4QHD6, B9EM04, C1BKD1, C1BZU2, C3ZDX5, Q03598, Q178A5, Q1ZXC9, Q28X71, Q5E953, Q6BBI8, Q6DEN0, Q7K1Z5, Q7PND3, Q8S625, Q9CR09, Q9SXC8, Q9Y3C8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Antigen processing: Ubiquitination & Proteasome degradation	5	10.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
response to endoplasmic reticulum stress	6	43.5×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	19
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1706462	NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)	Pathogenic
4072028	NM_016406.4(UFC1):c.244_255delATCGAGTTTGAC (p.79EFDI[1])	Pathogenic
3897674	NM_016406.4(UFC1):c.192-6T>C	Likely pathogenic
4072029	NM_016406.4(UFC1):c.255+17G>A	Likely pathogenic
559447	NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	Likely pathogenic

SpliceAI

809 predictions. Top by Δscore:

Variant	Effect	Δscore
1:161154097:G:GT	donor_gain	1.0000
1:161156944:TTTCA:T	acceptor_loss	1.0000
1:161156945:TTCA:T	acceptor_loss	1.0000
1:161156947:CAGTA:C	acceptor_loss	1.0000
1:161156948:A:AG	acceptor_gain	1.0000
1:161156948:A:C	acceptor_loss	1.0000
1:161156948:AGTAT:A	acceptor_gain	1.0000
1:161156949:G:GA	acceptor_gain	1.0000
1:161156949:GT:G	acceptor_gain	1.0000
1:161156949:GTA:G	acceptor_gain	1.0000
1:161156949:GTAT:G	acceptor_gain	1.0000
1:161156949:GTATG:G	acceptor_gain	1.0000
1:161157007:G:GT	donor_gain	1.0000
1:161157013:ACTCG:A	donor_gain	1.0000
1:161157014:CTCG:C	donor_gain	1.0000
1:161157015:TCG:T	donor_gain	1.0000
1:161157015:TCGG:T	donor_loss	1.0000
1:161157016:CGGTA:C	donor_loss	1.0000
1:161157018:G:GG	donor_gain	1.0000
1:161157019:T:G	donor_loss	1.0000
1:161158410:AGCTG:A	acceptor_gain	1.0000
1:161158411:GCTGG:G	acceptor_gain	1.0000
1:161154067:GATC:G	donor_gain	0.9900
1:161154100:G:GT	donor_gain	0.9900
1:161154121:G:GC	donor_loss	0.9900
1:161154122:T:A	donor_loss	0.9900
1:161156941:T:TA	acceptor_gain	0.9900
1:161157008:A:T	donor_gain	0.9900
1:161157014:CTCGG:C	donor_gain	0.9900
1:161157015:TCGGT:T	donor_gain	0.9900

AlphaMissense

1087 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:161154079:T:A	W28R	1.000
1:161154079:T:C	W28R	1.000
1:161156983:T:A	W53R	1.000
1:161156983:T:C	W53R	1.000
1:161156987:T:C	F54S	1.000
1:161157010:G:A	G62R	1.000
1:161157010:G:C	G62R	1.000
1:161157255:T:A	W65R	1.000
1:161157255:T:C	W65R	1.000
1:161157262:G:A	G67E	1.000
1:161157685:G:C	K108N	1.000
1:161157685:G:T	K108N	1.000
1:161157693:G:T	R111M	1.000
1:161158126:G:A	G113D	1.000
1:161158126:G:T	G113V	1.000
1:161158132:T:A	I115K	1.000
1:161158134:T:C	C116R	1.000
1:161158135:G:A	C116Y	1.000
1:161158136:C:G	C116W	1.000
1:161158146:C:G	H120D	1.000
1:161158148:T:A	H120Q	1.000
1:161158148:T:G	H120Q	1.000
1:161158149:T:C	F121L	1.000
1:161158151:C:A	F121L	1.000
1:161158151:C:G	F121L	1.000
1:161158161:T:A	W125R	1.000
1:161158161:T:C	W125R	1.000
1:161158163:G:C	W125C	1.000
1:161158163:G:T	W125C	1.000
1:161158186:G:A	G133E	1.000

dbSNP variants (sampled 300 via entrez): RS1000863386 (1:161152286 T>C), RS1000876078 (1:161159352 T>C,G), RS1001104796 (1:161159018 C>G), RS1001234542 (1:161156844 A>G), RS1001306250 (1:161157502 G>A), RS1001525498 (1:161153487 G>A), RS1002129848 (1:161155031 A>C), RS1002210661 (1:161156551 A>C,G,T), RS1002884905 (1:161155949 C>G), RS1002994231 (1:161155557 A>T), RS1003326644 (1:161154233 A>C), RS1003983394 (1:161158311 C>G), RS1004644159 (1:161153006 T>C), RS1005037723 (1:161153162 A>T), RS1005308713 (1:161156121 T>C)

Disease associations

OMIM: gene MIM:610554 | disease phenotypes: MIM:618076

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with spasticity and poor growth	Strong	Autosomal recessive

Mondo (1): neurodevelopmental disorder with spasticity and poor growth (MONDO:0060752)

Orphanet (0):

HPO phenotypes

69 total (30 of 69 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000160	Narrow mouth
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000298	Mask-like facies
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead
HP:0000369	Low-set ears
HP:0000448	Prominent nose
HP:0000463	Anteverted nares
HP:0000496	Abnormality of eye movement
HP:0000527	Long eyelashes
HP:0000540	Hypermetropia
HP:0000565	Esotropia
HP:0000646	Amblyopia
HP:0000657	Oculomotor apraxia
HP:0000664	Synophrys
HP:0000737	Irritability
HP:0000954	Single transverse palmar crease
HP:0001007	Hirsutism
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001321	Cerebellar hypoplasia
HP:0001336	Myoclonus
HP:0001344	Absent speech
HP:0001347	Hyperreflexia

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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	7
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
arsenite	affects binding, increases reaction	1
potassium chromate(VI)	decreases expression	1
ICG 001	increases expression	1
bisphenol S	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Doxorubicin	affects expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Phenobarbital	affects expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3KS	Abcam HEK293T UFC1 KO	Transformed cell line	Female
CVCL_TW20	HAP1 UFC1 (-) 1	Cancer cell line	Male
CVCL_TW21	HAP1 UFC1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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