UQCRHL

Summary

UQCRHL (ubiquinol-cytochrome c reductase hinge protein like, HGNC:51714) is a protein-coding gene on chromosome 1p36.21, encoding Cytochrome b-c1 complex subunit 6-like, mitochondrial (A0A096LP55). May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain.

This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now.

Source: NCBI Gene 440567 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_001089591

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51714
Approved symbol	UQCRHL
Name	ubiquinol-cytochrome c reductase hinge protein like
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000233954
Ensembl biotype	protein_coding
Entrez	440567

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000483273, ENST00000696689

RefSeq mRNA: 1 — MANE Select: NM_001089591 NM_001089591

CCDS: CCDS76112

Canonical transcript exons

ENST00000696689 — 1 exons

Exon	Start	End
ENSE00003968067	15807374	15807649

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 76.08.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	76.08	gold quality
colonic epithelium	UBERON:0000397	76.07	gold quality
cortical plate	UBERON:0005343	74.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.94	gold quality
bone marrow cell	CL:0002092	74.61	gold quality
skeletal muscle tissue	UBERON:0001134	74.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.09	gold quality
superior frontal gyrus	UBERON:0002661	73.84	gold quality
primary visual cortex	UBERON:0002436	73.26	gold quality
prefrontal cortex	UBERON:0000451	73.23	gold quality
ventricular zone	UBERON:0003053	72.41	gold quality
stromal cell of endometrium	CL:0002255	69.66	gold quality
muscle tissue	UBERON:0002385	68.50	gold quality
cortex of kidney	UBERON:0001225	64.71	gold quality
frontal cortex	UBERON:0001870	64.26	gold quality
bone marrow	UBERON:0002371	63.61	silver quality
muscle of leg	UBERON:0001383	62.01	gold quality
tonsil	UBERON:0002372	61.78	gold quality
liver	UBERON:0002107	61.64	gold quality
sural nerve	UBERON:0015488	61.45	silver quality
gastrocnemius	UBERON:0001388	61.25	gold quality
right uterine tube	UBERON:0001302	59.89	gold quality
cerebellum	UBERON:0002037	58.43	gold quality
cerebellar cortex	UBERON:0002129	58.04	gold quality
cerebral cortex	UBERON:0000956	57.77	gold quality
cerebellar hemisphere	UBERON:0002245	57.40	gold quality
kidney	UBERON:0002113	56.84	gold quality
right lobe of liver	UBERON:0001114	56.82	gold quality
blood	UBERON:0000178	56.58	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.97	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	22.97
E-GEOD-111727	no	76.85
E-MTAB-6142	no	5.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting UQCRHL, 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-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-5579-5P	96.32	68.54	730

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uqcrh	ENSDARG00000059128
mus_musculus	Uqcrh	ENSMUSG00000063882
rattus_norvegicus	Uqcrh	ENSRNOG00000012550
drosophila_melanogaster	UQCR-11L	FBGN0050354
drosophila_melanogaster	UQCR-11	FBGN0260008

Paralogs (1): UQCRH (ENSG00000173660)

Protein

Protein identifiers

Cytochrome b-c1 complex subunit 6-like, mitochondrial — A0A096LP55 (reviewed: A0A096LP55)

All UniProt accessions (1): A0A096LP55

UniProt curated annotations — full annotation on UniProt →

Function. May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.

Subunit / interactions. The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

Subcellular location. Mitochondrion inner membrane.

Similarity. Belongs to the UQCRH/QCR6 family.

RefSeq proteins (1): NP_001083060* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003422	Cyt_b-c1_6	Family
IPR023184	Ubol_cytC_Rdtase_hinge_dom	Domain
IPR036811	Ubol_cytC_Rdtase_hinge_dom_sf	Homologous_superfamily

Pfam: PF02320

UniProt features (7 total): modified residue 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A096LP55-F1	85.55	0.67

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 (2): 42, 85

Disulfide bonds (1): 37–81

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 67 (showing top): GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_MITOCHONDRIAL_ELECTRON_TRANSPORT_UBIQUINOL_TO_CYTOCHROME_C, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN, KEGG_HUNTINGTONS_DISEASE, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_CELLULAR_RESPIRATION, KEGG_ALZHEIMERS_DISEASE, GOCC_CYTOCHROME_COMPLEX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_TRANSPORTER_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, KEGG_CARDIAC_MUSCLE_CONTRACTION, chr1p36, KEGG_OXIDATIVE_PHOSPHORYLATION

GO Biological Process (1): mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)

GO Molecular Function (0):

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex III (GO:0045275), membrane (GO:0016020), respiratory chain complex (GO:0098803)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

800 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UQCRHL	MRPL22	Q9NWU5	512
UQCRHL	COX6A1	P12074	450
UQCRHL	UQCRQ	O14949	431
UQCRHL	POLR2J3	Q9H1A7	354
UQCRHL	COA6	Q5JTJ3	353
UQCRHL	PEBP1	P30086	349
UQCRHL	POLR2J2	Q9GZM3	349
UQCRHL	COX7A2	P14406	349
UQCRHL	UQCRB	P14927	343
UQCRHL	LRRC41	Q15345	336
UQCRHL	A0A087WUM3	A0A087WUM3	329
UQCRHL	MRPS11	P82912	324
UQCRHL	CCDC146	Q8IYE0	323
UQCRHL	ATP5MK	Q96IX5	317
UQCRHL	COXFA4	O00483	308

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ZSCAN2	UQCRHL	psi-mi:“MI:0915”(physical association)	0.400
RNF40	UQCRHL	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (4): RNF40 (Proximity Label-MS), ZSCAN2 (Proximity Label-MS), UQCRHL (Negative Genetic), UQCRH (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A096LP55, A0A1D8PJT8, A1L243, A1L3N6, A6H767, A9ULB4, P00126, P00429, P05067, P07919, P08592, P12023, P13805, P14854, P23025, P27088, P28656, P36233, P36378, P48504, P55209, P56277, P79307, P99028, Q0P451, Q0VBY0, Q15545, Q28CA1, Q28EB4, Q2HJG8, Q4R374, Q4R5A5, Q4U0Y4, Q53CG4, Q5IS80, Q5M9I5, Q5R4D4, Q5R7L9, Q5RCT0, Q64267

Diamond homologs: A0A096LP55, P00126, P07919, P48504, P99028, Q5M9I5, Q8SPH5, A0A1D8PJT8, Q0WWE3, Q1ZXP3, Q9SJV7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

199 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15809180:CTT:C	donor_gain	0.8900
1:15809247:AT:A	donor_gain	0.8900
1:15809179:A:AC	donor_gain	0.8800
1:15809180:C:CC	donor_gain	0.8800
1:15809182:T:TA	donor_gain	0.8600
1:15808978:CA:C	donor_gain	0.8400
1:15808007:CATCT:C	acceptor_gain	0.8300
1:15808010:CT:C	acceptor_gain	0.8100
1:15807659:CGGTT:C	acceptor_gain	0.8000
1:15808012:C:G	acceptor_gain	0.7900
1:15809257:T:TA	donor_gain	0.7800
1:15809240:G:A	donor_gain	0.7700
1:15808016:C:CT	acceptor_gain	0.7600
1:15809248:T:TA	donor_gain	0.7600
1:15808009:TCT:T	acceptor_gain	0.7500
1:15808010:CTC:C	acceptor_gain	0.7500
1:15808011:TCT:T	acceptor_gain	0.7500
1:15808017:A:T	acceptor_gain	0.7500
1:15809285:A:AC	donor_gain	0.7500
1:15809286:C:CC	donor_gain	0.7500
1:15808983:A:AC	donor_gain	0.7400
1:15809176:T:C	donor_gain	0.7400
1:15809236:C:A	donor_gain	0.7400
1:15808012:C:CC	acceptor_gain	0.7300
1:15807696:T:TG	acceptor_gain	0.6900
1:15807691:GCACC:G	acceptor_gain	0.6500
1:15809231:T:C	donor_gain	0.6500
1:15809234:ACC:A	donor_gain	0.6300
1:15809235:CCC:C	donor_gain	0.6300
1:15809181:T:C	donor_gain	0.6200

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000958005 (1:15808654 T>C), RS1001393216 (1:15807536 C>G), RS1002425977 (1:15808808 T>C), RS1002756370 (1:15809409 G>A,T), RS1003758213 (1:15808033 G>A,T), RS1003811862 (1:15808327 A>T), RS1006156031 (1:15809067 C>T), RS1006498240 (1:15809378 C>T), RS1007839689 (1:15808263 C>G,T), RS1008000783 (1:15809000 G>A,C,T), RS1008875518 (1:15809397 C>T), RS1009078694 (1:15807457 C>G,T), RS1010942097 (1:15808342 C>T), RS1011122200 (1:15808615 G>A,C), RS1012444326 (1:15807999 T>C,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
GCST006988_202	Blond vs. brown/black hair color	4.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003924	hair color

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
acipimox	increases expression	1
chloropicrin	affects expression	1
licochalcone B	increases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Vehicle Emissions	decreases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Rotenone	increases reaction, decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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