UBALD1

Summary

UBALD1 (UBA like domain containing 1, HGNC:29576) is a protein-coding gene on chromosome 16p13.3, encoding UBA-like domain-containing protein 1 (Q8TB05).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_145253

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29576
Approved symbol	UBALD1
Name	UBA like domain containing 1
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000153443
Ensembl biotype	protein_coding
Entrez	124402

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 non_stop_decay

ENST00000283474, ENST00000587615, ENST00000587649, ENST00000588691, ENST00000590891, ENST00000590965, ENST00000591113, ENST00000591401, ENST00000591897, ENST00000875242

RefSeq mRNA: 3 — MANE Select: NM_145253 NM_001330467, NM_001411032, NM_145253

CCDS: CCDS10518, CCDS81944, CCDS92096

Canonical transcript exons

ENST00000283474 — 3 exons

Exon	Start	End
ENSE00001010771	4614678	4614888
ENSE00003624599	4610493	4610555
ENSE00003847700	4608884	4609983

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 94.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.9946 / max 359.2357, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156106	36.9461	1820
156109	1.6525	915
156107	0.2741	128
156108	0.1054	37
156103	0.0165	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	94.54	gold quality
kidney epithelium	UBERON:0004819	94.35	silver quality
cerebellar hemisphere	UBERON:0002245	93.94	gold quality
cerebellar cortex	UBERON:0002129	93.88	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.24	gold quality
lower esophagus	UBERON:0013473	93.22	gold quality
right frontal lobe	UBERON:0002810	93.16	gold quality
lower esophagus mucosa	UBERON:0035834	93.03	gold quality
cerebellum	UBERON:0002037	92.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.77	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.66	gold quality
right lobe of liver	UBERON:0001114	92.65	gold quality
apex of heart	UBERON:0002098	92.63	gold quality
bone marrow cell	CL:0002092	92.16	gold quality
gastrocnemius	UBERON:0001388	92.05	gold quality
anterior cingulate cortex	UBERON:0009835	92.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.98	gold quality
prefrontal cortex	UBERON:0000451	91.83	gold quality
body of uterus	UBERON:0009853	91.47	gold quality
body of stomach	UBERON:0001161	91.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.24	gold quality
left uterine tube	UBERON:0001303	91.10	gold quality
mucosa of stomach	UBERON:0001199	90.77	gold quality
frontal cortex	UBERON:0001870	90.67	gold quality
amygdala	UBERON:0001876	90.64	gold quality
cortex of kidney	UBERON:0001225	90.48	gold quality
nucleus accumbens	UBERON:0001882	90.40	gold quality
left lobe of thyroid gland	UBERON:0001120	90.39	gold quality
esophagus	UBERON:0001043	90.28	gold quality
muscle of leg	UBERON:0001383	90.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.94
E-MTAB-6142	no	13.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting UBALD1, 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-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-6782-5P	96.45	64.42	612

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ubald1	ENSMUSG00000039568
rattus_norvegicus	Ubald1	ENSRNOG00000027368

Paralogs (1): UBALD2 (ENSG00000185262)

Protein

Protein identifiers

UBA-like domain-containing protein 1 — Q8TB05 (reviewed: Q8TB05)

All UniProt accessions (8): Q8TB05, A0A075B769, D3DUE0, K7EKR5, K7EKZ4, K7EM52, K7EM88, K7EQ49

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UBALD family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TB05-1	1	yes
Q8TB05-2	2

RefSeq proteins (3): NP_001317396, NP_001397961, NP_660296* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009060	UBA-like_sf	Homologous_superfamily
IPR039310	UBALD1/2	Family
IPR054109	UBA_8	Domain

Pfam: PF22566

UniProt features (6 total): compositionally biased region 3, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TB05-F1	62.82	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, AP1_01, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, AP1_Q4_01, BACH2_01, TGANTCA_AP1_C, TCCCRNNRTGC_UNKNOWN, SANSOM_APC_MYC_TARGETS, ARNT_01, ATGGYGGA_UNKNOWN, BILD_MYC_ONCOGENIC_SIGNATURE, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_DN, BHAT_ESR1_TARGETS_VIA_AKT1_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

326 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBALD1	NEMP1	O14524	646
UBALD1	H3BQK0	H3BQK0	587
UBALD1	PANK2	Q9BZ23	484
UBALD1	MLYCD	O95822	477
UBALD1	C16orf96	A6NNT2	447
UBALD1	INAFM1	C9JVW0	446
UBALD1	PTEN	P60484	426
UBALD1	CDCP2	Q5VXM1	400
UBALD1	DCAF4L1	Q3SXM0	393
UBALD1	SDR39U1	Q9NRG7	392
UBALD1	ZNF628	Q5EBL2	377
UBALD1	REX1BD	Q96EN9	372
UBALD1	YJU2B	P13994	370
UBALD1	FAM220A	Q7Z4H9	370
UBALD1	RPP25L	Q8N5L8	367

IntAct

6 interactions, top by confidence:

A	B	Type	Score
MLYCD	UBALD1	psi-mi:“MI:0915”(physical association)	0.560
MLYCD	UBALD1	psi-mi:“MI:0915”(physical association)	0.000
UBALD1	MED8	psi-mi:“MI:0915”(physical association)	0.000
UBALD1	RPL9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): UBALD1 (Two-hybrid), UBALD1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A8C0NGY6, A0A8I3PQN6, A0JC51, A1L1N5, H2LBU8, O08656, O94900, P16376, P23769, P23770, P23899, P27889, P35680, P46692, P46936, P53772, Q12946, Q24648, Q28BS5, Q28EM1, Q502A3, Q571K4, Q5RER5, Q5RFW2, Q5U4X3, Q5XGE4, Q61080, Q66JW3, Q68EZ2, Q6AXN0, Q6DD24, Q6DGM1, Q6DIF3, Q6IP57, Q6P3B2, Q7ZY13, Q8BQH4, Q8BUR3, Q8IYN6, Q8TB05

Diamond homologs: Q502A3, Q5XGE4, Q6AXN0, Q6DD24, Q6DGM1, Q6IP57, Q6P3B2, Q8BQH4, Q8IYN6, Q8TB05

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	28
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

777 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4610488:CTTA:C	donor_loss	1.0000
16:4610489:TTACC:T	donor_loss	1.0000
16:4610490:TA:T	donor_loss	1.0000
16:4609979:CACAT:C	acceptor_gain	0.9900
16:4609981:CAT:C	acceptor_gain	0.9900
16:4609982:ATC:A	acceptor_loss	0.9900
16:4609983:TCT:T	acceptor_loss	0.9900
16:4609984:C:A	acceptor_loss	0.9900
16:4609984:C:CC	acceptor_gain	0.9900
16:4609985:T:G	acceptor_loss	0.9900
16:4610486:CACTT:C	donor_loss	0.9900
16:4610487:ACTT:A	donor_loss	0.9900
16:4610491:A:AC	donor_gain	0.9900
16:4610492:C:CC	donor_gain	0.9900
16:4610492:CCAT:C	donor_gain	0.9900
16:4610552:CTGT:C	acceptor_gain	0.9900
16:4610553:TGT:T	acceptor_gain	0.9900
16:4610556:C:CC	acceptor_gain	0.9900
16:4610491:AC:A	donor_gain	0.9800
16:4610491:ACCAT:A	donor_gain	0.9800
16:4610492:CC:C	donor_gain	0.9800
16:4610492:CCA:C	donor_gain	0.9800
16:4610492:CCATC:C	donor_gain	0.9800
16:4610555:TC:T	acceptor_loss	0.9800
16:4610556:C:A	acceptor_loss	0.9800
16:4614672:GCGCA:G	donor_loss	0.9800
16:4614673:CGCAC:C	donor_loss	0.9800
16:4614674:GCAC:G	donor_loss	0.9800
16:4614675:CA:C	donor_loss	0.9800
16:4614676:ACCT:A	donor_loss	0.9800

AlphaMissense

1173 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4610548:A:T	L43H	1.000
16:4610551:G:T	A42D	1.000
16:4614687:C:A	W37C	1.000
16:4614687:C:G	W37C	1.000
16:4614689:A:G	W37R	1.000
16:4614689:A:T	W37R	1.000
16:4614703:A:G	L32P	1.000
16:4614747:G:C	F17L	1.000
16:4614747:G:T	F17L	1.000
16:4614748:A:C	F17C	1.000
16:4614748:A:G	F17S	1.000
16:4614749:A:G	F17L	1.000
16:4609922:A:G	F82S	0.999
16:4609931:A:T	L79H	0.999
16:4609942:G:C	F75L	0.999
16:4609942:G:T	F75L	0.999
16:4609943:A:C	F75C	0.999
16:4609943:A:G	F75S	0.999
16:4609944:A:G	F75L	0.999
16:4609952:G:T	P72H	0.999
16:4609958:G:T	A70D	0.999
16:4609961:G:T	P69H	0.999
16:4609966:A:C	N67K	0.999
16:4609966:A:T	N67K	0.999
16:4610538:A:C	F46L	0.999
16:4610538:A:T	F46L	0.999
16:4610540:A:G	F46L	0.999
16:4610548:A:G	L43P	0.999
16:4614682:A:G	F39S	0.999
16:4614688:C:G	W37S	0.999

dbSNP variants (sampled 300 via entrez): RS1000041518 (16:4609332 C>A,T), RS1000089814 (16:4615724 A>C,G), RS1000557402 (16:4609516 C>A), RS1001385801 (16:4613032 T>C), RS1001438060 (16:4612767 C>A), RS1002098731 (16:4613333 G>C), RS1002156891 (16:4614176 T>A,G), RS1003220201 (16:4614948 C>A), RS1003540319 (16:4610441 A>G), RS1003991889 (16:4611506 C>G,T), RS1003992933 (16:4613355 G>A), RS1004009385 (16:4616552 G>A,C,T), RS1004509173 (16:4608987 G>A), RS1005141194 (16:4616005 T>C), RS1005520095 (16:4616262 T>G)

Disease associations

OMIM: gene `` | 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
GCST90002400_168	Plateletcrit	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Smoke	increases abundance, increases expression	2
Cyclosporine	increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	increases expression	1
beta-lapachone	increases expression, decreases expression	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
ICG 001	decreases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Dimethyl Sulfoxide	increases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Ozone	decreases expression, increases abundance, affects cotreatment	1
Plant Extracts	decreases expression, affects cotreatment	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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