UTP14C

Summary

UTP14C (UTP14C small subunit processome component, HGNC:20321) is a protein-coding gene on chromosome 13q14.3, encoding U3 small nucleolar RNA-associated protein 14 homolog C (Q5TAP6). Essential for spermatogenesis.

Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus.

Source: NCBI Gene 9724 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_021645

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20321
Approved symbol	UTP14C
Name	UTP14C small subunit processome component
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	2700066J21Rik
Ensembl gene	ENSG00000253797
Ensembl biotype	protein_coding
OMIM	608969
Entrez	9724

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000521776

RefSeq mRNA: 1 — MANE Select: NM_021645 NM_021645

CCDS: CCDS31978

Canonical transcript exons

ENST00000521776 — 2 exons

Exon	Start	End
ENSE00002214313	52024691	52024937
ENSE00002318175	52028319	52033600

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 85.77.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.77	gold quality
ventricular zone	UBERON:0003053	80.53	gold quality
ganglionic eminence	UBERON:0004023	79.41	gold quality
cortical plate	UBERON:0005343	79.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.91	gold quality
right coronary artery	UBERON:0001625	72.43	gold quality
apex of heart	UBERON:0002098	71.88	gold quality
putamen	UBERON:0001874	71.70	gold quality
thoracic aorta	UBERON:0001515	71.66	gold quality
prefrontal cortex	UBERON:0000451	71.51	gold quality
ascending aorta	UBERON:0001496	71.48	gold quality
cerebellar cortex	UBERON:0002129	71.48	gold quality
nucleus accumbens	UBERON:0001882	71.43	gold quality
cerebellar hemisphere	UBERON:0002245	71.41	gold quality
cerebellum	UBERON:0002037	71.39	gold quality
substantia nigra	UBERON:0002038	71.17	gold quality
skeletal muscle tissue	UBERON:0001134	71.09	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.05	gold quality
descending thoracic aorta	UBERON:0002345	70.93	gold quality
caudate nucleus	UBERON:0001873	70.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	70.66	gold quality
superior frontal gyrus	UBERON:0002661	70.62	gold quality
primary visual cortex	UBERON:0002436	70.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.51	gold quality
left coronary artery	UBERON:0001626	70.47	gold quality
gastrocnemius	UBERON:0001388	70.44	gold quality
cerebral cortex	UBERON:0000956	70.41	gold quality
frontal cortex	UBERON:0001870	70.38	gold quality
anterior cingulate cortex	UBERON:0009835	70.36	gold quality
amygdala	UBERON:0001876	70.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting UTP14C, 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-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-320A-3P	99.77	69.73	2107

Literature-anchored findings (GeneRIF, showing 2)

• may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans (PMID:16354793)
• We hypothesize that women, whose ovaries express UTP14c, are predisposed to ovarian cancer due to the disruption of protective signals that normally trigger TP53-mediated apoptosis and the dysregulation of genes that promote oncogenesis (PMID:22285623)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	UTP14A	ENSDARG00000042520
mus_musculus	Utp14a	ENSMUSG00000063785
mus_musculus	Utp14b	ENSMUSG00000079470
rattus_norvegicus	Utp14a	ENSRNOG00000005012
rattus_norvegicus	LOC102551819	ENSRNOG00000063437
drosophila_melanogaster	CG12301	FBGN0036514
caenorhabditis_elegans	F27C1.6	WBGENE00017855

Paralogs (1): UTP14A (ENSG00000156697)

Protein

Protein identifiers

U3 small nucleolar RNA-associated protein 14 homolog C — Q5TAP6 (reviewed: Q5TAP6)

All UniProt accessions (1): Q5TAP6

UniProt curated annotations — full annotation on UniProt →

Function. Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Expressed in testis.

Miscellaneous. Encoded by an autosomal retrotransposed copy of the X-linked gene UTP14A. Evolution of autosomal retrogenes from X-linked progenitors compensates for X-chromosome silencing during male meiosis.

Similarity. Belongs to the UTP14 family.

RefSeq proteins (1): NP_067677* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006709	SSU_processome_Utp14	Family

Pfam: PF04615

UniProt features (30 total): modified residue 10, compositionally biased region 6, cross-link 4, region of interest 3, sequence variant 3, coiled-coil region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TAP6-F1	66.59	0.17

Functional residue map

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

Post-translational modifications (14): 28, 51, 76, 80, 204, 403, 405, 443, 451, 567, 121, 447, 517, 732

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 82 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_MALE_GAMETE_GENERATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, AGTCAGC_MIR345, ACEVEDO_LIVER_CANCER_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, chr13q14, REACTOME_METABOLISM_OF_RNA, GOBP_MEIOTIC_CELL_CYCLE, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX

GO Biological Process (5): rRNA processing (GO:0006364), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), meiotic cell cycle (GO:0051321), ribosome biogenesis (GO:0042254)

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

GO Cellular Component (4): nucleolus (GO:0005730), cytosol (GO:0005829), small-subunit processome (GO:0032040), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
ribonucleoprotein complex biogenesis	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
cellular anatomical structure	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1827 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UTP14C	ALG11	Q2TAA5	510
UTP14C	UTP6	Q9NYH9	492
UTP14C	MSL3	Q8N5Y2	447
UTP14C	SPDYE2	Q495Y8	447
UTP14C	UTP4	Q969X6	442
UTP14C	GMCL2	Q8NEA9	430
UTP14C	ZNF782	Q6ZMW2	419
UTP14C	RPS24	P16632	417
UTP14C	NME9	Q86XW9	400
UTP14C	UBL4B	Q8N7F7	398
UTP14C	RACGAP1	Q9H0H5	398
UTP14C	UTP15	Q8TED0	390
UTP14C	PYROXD2	Q8N2H3	372
UTP14C	ZNF841	Q6ZN19	372
UTP14C	CDC14C	A4D256	371

IntAct

94 interactions, top by confidence:

A	B	Type	Score
UTP14C	GOLGA2	psi-mi:“MI:0915”(physical association)	0.700
GOLGA2	UTP14C	psi-mi:“MI:0915”(physical association)	0.700
UTP14C	KANK2	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	GOLGA6A	psi-mi:“MI:0915”(physical association)	0.560
TXLNA	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
NAB2	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	CARD10	psi-mi:“MI:0915”(physical association)	0.560
KRT34	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	HOOK2	psi-mi:“MI:0915”(physical association)	0.560
PIBF1	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
MCC	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
RABEP1	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	GCC1	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	TEX11	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	BICD2	psi-mi:“MI:0915”(physical association)	0.560
ALAS1	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	RINT1	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	HOOK1	psi-mi:“MI:0915”(physical association)	0.560
	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
JRK	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	CEP70	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	E7	psi-mi:“MI:0915”(physical association)	0.370
TRIM54	UTP14C	psi-mi:“MI:0915”(physical association)	0.370
UTP14C	PDE4DIP	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (63): UTP14C (Two-hybrid), UTP14C (Two-hybrid), HOOK2 (Two-hybrid), TEX11 (Two-hybrid), TRIM54 (Two-hybrid), LZTS2 (Two-hybrid), KRT40 (Two-hybrid), PRICKLE1 (Two-hybrid), CCDC57 (Two-hybrid), UTP14C (Affinity Capture-MS), UTP14C (Affinity Capture-MS), GOLGA2 (Two-hybrid), UTP14C (Affinity Capture-RNA), UTP14C (Affinity Capture-MS), UTP14C (Affinity Capture-MS)

ESM2 similar proteins: A1A5P2, A6QNR1, A8WY26, D3ZND0, O15213, O59678, P27672, P78316, Q0V8M0, Q15050, Q24K12, Q28IV8, Q2KIH4, Q2KII6, Q3T0Q8, Q3T0Z5, Q3UFY0, Q4KLC4, Q5M985, Q5RAS1, Q5RJT2, Q5TAP6, Q5TJE7, Q5ZKM1, Q640M1, Q6EJB6, Q6P0I6, Q6PFJ1, Q8BK35, Q8IY81, Q8N9T8, Q8NEJ9, Q8R3N1, Q8VDQ9, Q96BZ8, Q96EU6, Q9BRP8, Q9BRR8, Q9BVJ6, Q9C086

Diamond homologs: Q3T0Q8, Q5TAP6, Q640M1, Q6EJB6, Q9BVJ6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein transport	7	9.3×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

337 predictions. Top by Δscore:

Variant	Effect	Δscore
13:52024933:GATTG:G	donor_gain	0.9900
13:52024935:TTGG:T	donor_loss	0.9900
13:52024936:TGGT:T	donor_loss	0.9900
13:52024937:GGTG:G	donor_loss	0.9900
13:52024938:G:GG	donor_gain	0.9900
13:52024938:GTG:G	donor_loss	0.9900
13:52024939:T:G	donor_loss	0.9900
13:52024940:GAGT:G	donor_loss	0.9900
13:52028318:GGA:G	acceptor_gain	0.9900
13:52024941:AGTT:A	donor_loss	0.9800
13:52028313:TCTCA:T	acceptor_loss	0.9800
13:52028314:CTCA:C	acceptor_loss	0.9800
13:52028317:A:AG	acceptor_gain	0.9800
13:52028317:A:T	acceptor_loss	0.9800
13:52028317:AG:A	acceptor_gain	0.9800
13:52028318:G:GG	acceptor_gain	0.9800
13:52028318:GG:G	acceptor_gain	0.9800
13:52024942:G:C	donor_loss	0.9700
13:52028316:CAG:C	acceptor_loss	0.9700
13:52028317:A:AC	acceptor_loss	0.9700
13:52028318:G:GA	acceptor_loss	0.9700
13:52028318:GGAGT:G	acceptor_gain	0.9600
13:52024935:TTGGT:T	donor_loss	0.9500
13:52024936:TG:T	donor_gain	0.9500
13:52024937:GG:G	donor_gain	0.9500
13:52024937:GGTGA:G	donor_loss	0.9500
13:52024938:GTGA:G	donor_loss	0.9500
13:52024939:T:C	donor_loss	0.9500
13:52024940:GAG:G	donor_loss	0.9500
13:52024941:AG:A	donor_loss	0.9500

AlphaMissense

5062 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:52030596:T:C	F598L	0.979
13:52030598:T:A	F598L	0.979
13:52030598:T:G	F598L	0.979
13:52030866:T:C	F688L	0.974
13:52030868:T:A	F688L	0.974
13:52030868:T:G	F688L	0.974
13:52030920:T:A	W706R	0.974
13:52030920:T:C	W706R	0.974
13:52030701:T:A	W633R	0.970
13:52030701:T:C	W633R	0.970
13:52029231:T:A	W143R	0.968
13:52029231:T:C	W143R	0.968
13:52030623:T:C	F607L	0.967
13:52030625:C:A	F607L	0.967
13:52030625:C:G	F607L	0.967
13:52030703:G:C	W633C	0.963
13:52030703:G:T	W633C	0.963
13:52030692:T:A	W630R	0.962
13:52030692:T:C	W630R	0.962
13:52029021:T:C	F73L	0.960
13:52029023:C:A	F73L	0.960
13:52029023:C:G	F73L	0.960
13:52029233:G:C	W143C	0.956
13:52029233:G:T	W143C	0.956
13:52030925:C:A	N707K	0.951
13:52030925:C:G	N707K	0.951
13:52029516:G:C	A238P	0.948
13:52030884:T:C	F694L	0.948
13:52030886:T:A	F694L	0.948
13:52030886:T:G	F694L	0.948

dbSNP variants (sampled 300 via entrez): RS1000600431 (13:52027753 C>T), RS1001837925 (13:52026540 G>A), RS1002006731 (13:52032227 GAAAAA>G,GAAAA), RS1002042673 (13:52032479 C>G), RS1002249932 (13:52028573 G>A,T), RS1002838754 (13:52029949 C>T), RS1003289186 (13:52023325 G>C), RS1003717136 (13:52030986 A>G,T), RS1003728069 (13:52023639 T>C), RS1004195092 (13:52023505 G>A), RS1004326613 (13:52032251 G>C,T), RS1004845425 (13:52031841 A>T), RS1005196076 (13:52023261 T>G), RS1005733314 (13:52023681 C>A), RS1005782947 (13:52025107 G>A,C)

Disease associations

OMIM: gene MIM:608969 | disease phenotypes: MIM:613661

GenCC curated gene-disease

Mondo (1): ALG11-congenital disorder of glycosylation (MONDO:0013349)

Orphanet (1): ALG11-CDG (Orphanet:280071)

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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
sodium arsenite	decreases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
formononetin	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	decreases expression	1
Doxorubicin	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Tunicamycin	increases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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