MROH1

Summary

MROH1 (maestro heat like repeat family member 1, HGNC:26958) is a protein-coding gene on chromosome 8q24.3, encoding Maestro heat-like repeat-containing protein family member 1 (Q8NDA8). Lysosome fission factor.

Predicted to be active in cytoplasm.

Source: NCBI Gene 727957 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 92 total
• MANE Select transcript: NM_032450

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26958
Approved symbol	MROH1
Name	maestro heat like repeat family member 1
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1833
Ensembl gene	ENSG00000179832
Ensembl biotype	protein_coding
Entrez	727957

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 37 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000326134, ENST00000423230, ENST00000525287, ENST00000527071, ENST00000527552, ENST00000528664, ENST00000528919, ENST00000532255, ENST00000534366, ENST00000534508, ENST00000544576, ENST00000866122, ENST00000866123, ENST00000866124, ENST00000866125, ENST00000866126, ENST00000866127, ENST00000866128, ENST00000866129, ENST00000866130, ENST00000866131, ENST00000866132, ENST00000866133, ENST00000920070, ENST00000920071, ENST00000920072, ENST00000962194, ENST00000962195, ENST00000962196, ENST00000962197, ENST00000962198, ENST00000962199, ENST00000962200, ENST00000962201, ENST00000962202, ENST00000962203, ENST00000962204, ENST00000962205, ENST00000962206, ENST00000962207, ENST00000962208, ENST00000962209, ENST00000962210, ENST00000962211

RefSeq mRNA: 4 — MANE Select: NM_032450 NM_001099280, NM_001099281, NM_001288814, NM_032450

CCDS: CCDS47938, CCDS47939, CCDS75803

Canonical transcript exons

ENST00000326134 — 44 exons

Exon	Start	End
ENSE00001473881	144148016	144148076
ENSE00001604616	144261655	144261926
ENSE00001616873	144242602	144242628
ENSE00002158712	144160970	144161089
ENSE00002436248	144258777	144258914
ENSE00002439354	144261284	144261349
ENSE00002452688	144255509	144255705
ENSE00002455365	144261114	144261216
ENSE00002456422	144260186	144260374
ENSE00002478739	144250212	144250366
ENSE00002489505	144260907	144261041
ENSE00002511027	144259240	144259354
ENSE00002512389	144259911	144260057
ENSE00002521019	144260677	144260832
ENSE00002529267	144254813	144254978
ENSE00003460334	144180178	144180340
ENSE00003460954	144247567	144247679
ENSE00003469896	144241395	144241517
ENSE00003475205	144191715	144191855
ENSE00003491087	144168295	144168440
ENSE00003492251	144240570	144240677
ENSE00003504558	144199122	144199200
ENSE00003504972	144190784	144190935
ENSE00003507561	144163771	144163848
ENSE00003517115	144245156	144245260
ENSE00003522362	144180425	144180523
ENSE00003523318	144247301	144247436
ENSE00003527018	144239323	144239363
ENSE00003527178	144240101	144240153
ENSE00003533022	144239614	144239755
ENSE00003540621	144220600	144220673
ENSE00003563600	144244444	144244539
ENSE00003570547	144248877	144249029
ENSE00003588739	144243863	144243942
ENSE00003615841	144244222	144244336
ENSE00003616339	144242369	144242515
ENSE00003623950	144239035	144239179
ENSE00003626821	144243494	144243616
ENSE00003634047	144179455	144179586
ENSE00003642084	144223108	144223230
ENSE00003665637	144200428	144200541
ENSE00003666961	144238756	144238863
ENSE00003686234	144192309	144192401
ENSE00003694336	144240992	144241111

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7051 / max 134.5927, expressed in 1786 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205393	5.9003	1699
205392	3.9524	1641
205395	0.7074	396
205394	0.1450	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	97.78	gold quality
left lobe of thyroid gland	UBERON:0001120	97.27	gold quality
thyroid gland	UBERON:0002046	96.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.12	gold quality
cerebellar hemisphere	UBERON:0002245	95.36	gold quality
pancreatic ductal cell	CL:0002079	95.26	silver quality
cerebellar cortex	UBERON:0002129	95.26	gold quality
cerebellum	UBERON:0002037	94.14	gold quality
apex of heart	UBERON:0002098	93.81	gold quality
right uterine tube	UBERON:0001302	93.73	gold quality
right frontal lobe	UBERON:0002810	93.32	gold quality
pituitary gland	UBERON:0000007	93.03	gold quality
buccal mucosa cell	CL:0002336	92.98	gold quality
adenohypophysis	UBERON:0002196	92.94	gold quality
mucosa of transverse colon	UBERON:0004991	92.12	gold quality
body of pancreas	UBERON:0001150	91.82	gold quality
metanephros cortex	UBERON:0010533	91.67	gold quality
lower esophagus mucosa	UBERON:0035834	91.63	gold quality
tendon of biceps brachii	UBERON:0008188	91.59	gold quality
body of stomach	UBERON:0001161	91.13	gold quality
anterior cingulate cortex	UBERON:0009835	90.78	gold quality
transverse colon	UBERON:0001157	90.53	gold quality
minor salivary gland	UBERON:0001830	90.35	gold quality
right adrenal gland cortex	UBERON:0035827	90.20	gold quality
upper lobe of left lung	UBERON:0008952	90.18	gold quality
left adrenal gland cortex	UBERON:0035825	90.11	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.04	gold quality
right adrenal gland	UBERON:0001233	90.02	gold quality
spleen	UBERON:0002106	89.82	gold quality
left adrenal gland	UBERON:0001234	89.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting MROH1, 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-6081	99.48	66.07	1446
HSA-MIR-339-5P	96.73	66.01	820

Literature-anchored findings (GeneRIF, showing 1)

• The HEAT repeat protein HPO-27 is a lysosome fission factor. (PMID:38538795)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mroh1	ENSDARG00000016573
mus_musculus	Mroh1	ENSMUSG00000022558
rattus_norvegicus	Mroh1	ENSRNOG00000030355

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH2B (ENSG00000171495), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH6 (ENSG00000204839), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Maestro heat-like repeat-containing protein family member 1 — Q8NDA8 (reviewed: Q8NDA8)

Alternative names: HEAT repeat-containing protein 7A

All UniProt accessions (2): E9PHY8, Q8NDA8

UniProt curated annotations — full annotation on UniProt →

Function. Lysosome fission factor. Recruited to lysosomes by RAB7 (RAB7A or RAB7B) at scission sites and homooligomerizes to mediate the constriction and scission of lysosomal tubules. May sever membranes by inserting amphipathic helices into one bilayer leaflet. Lysosome fission is required to maintain their steady-state number, shape, size, composition and function, and to accomplish regeneration.

Subunit / interactions. Homooligomer; homooligomerizes at lysosome scission sites.

Subcellular location. Lysosome membrane.

Similarity. Belongs to the MROH1 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q8NDA8-1	1	yes
Q8NDA8-2	2
Q8NDA8-3	3
Q8NDA8-4	4
Q8NDA8-5	5
Q8NDA8-6	6
Q8NDA8-7	7

RefSeq proteins (4): NP_001092750, NP_001092751, NP_001275743, NP_115826* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR021133	HEAT_type_2	Repeat
IPR045206	Maestro_heat-like_prot	Family
IPR048465	Maestro-like_HEAT	Domain
IPR055406	HEAT_Maestro	Domain
IPR055408	HEAT_MROH2B-like	Domain
IPR056282	MROH2B-like_N_HEAT	Domain

Pfam: PF21047, PF23210, PF23221, PF23227

UniProt features (25 total): splice variant 15, repeat 7, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NDA8-F1	84.31	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): GOCC_VACUOLAR_MEMBRANE, GOBP_ORGANELLE_FISSION, LIAO_METASTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, KOHOUTEK_CCNT1_TARGETS, chr8q24, CBX5_TARGET_GENES, CEBPZ_TARGET_GENES, HES2_TARGET_GENES, HOXD1_TARGET_GENES, NFKBIA_TARGET_GENES

GO Biological Process (1): lysosome fission (GO:0170064)

GO Molecular Function (2): membrane destabilizing activity (GO:0140912), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), lysosome (GO:0005764), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
organelle fission	1
molecular_function	1
binding	1
intracellular anatomical structure	1
lysosome	1
lytic vacuole membrane	1
lytic vacuole	1

Protein interactions and networks

STRING

570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MROH1	TMEM276	P0DTL5	762
MROH1	CPSF1	Q10570	723
MROH1	ARHGAP39	Q9C0H5	697
MROH1	SACK1H	Q6ZRV2	600
MROH1	MAPK15	Q8TD08	585
MROH1	PPP1R16A	Q96I34	581
MROH1	ADCK5	Q3MIX3	506
MROH1	GPAA1	O43292	479
MROH1	ZNF34	Q8IZ26	474
MROH1	GRINA	Q7Z429	455
MROH1	SLC33A2	Q96ES6	447
MROH1	DGAT1	O75907	444
MROH1	WDR97	A6NE52	434
MROH1	FBXL6	Q8N531	420
MROH1	SPDYE3	A6NKU9	417

IntAct

44 interactions, top by confidence:

A	B	Type	Score
NME3	NME4	psi-mi:“MI:0914”(association)	0.640
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
STK16	UNC119B	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
OPALIN	BTAF1	psi-mi:“MI:0914”(association)	0.530
Cdh1	ARVCF	psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
rs27_rs27l_human	HBD	psi-mi:“MI:0914”(association)	0.350
HLA-DQB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
MGARP	BTAF1	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
CLEC2D	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLEC4E	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLRB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HLA-DQB1	PIPSL	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350
KLRD1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SGCA	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
GZMH	DENND11	psi-mi:“MI:0914”(association)	0.350
GML	POTEF	psi-mi:“MI:0914”(association)	0.350
OPALIN	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CIAO2A		psi-mi:“MI:0914”(association)	0.350
VSTM1	ACOT8	psi-mi:“MI:0914”(association)	0.350
SNX21	ACOT8	psi-mi:“MI:0914”(association)	0.350
CD83	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
SLAMF1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
VSIG4	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
RAMP3	MGST3	psi-mi:“MI:0914”(association)	0.350

BioGRID (43): MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-RNA), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-RNA), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS), MROH1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071

Diamond homologs: A6NGR9, A7E2Y6, E0CZ22, Q8NDA8, A6NES4, D3Z750, Q58DE2, Q7M6Y6, Q7TNB4, Q7Z745, Q8WNV3, Q9BYG7, Q6ZUA9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	6	18.0×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

9129 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144163765:TTCCA:T	acceptor_loss	1.0000
8:144163766:TCCAG:T	acceptor_loss	1.0000
8:144163767:CCAG:C	acceptor_loss	1.0000
8:144163768:CAGA:C	acceptor_loss	1.0000
8:144163769:A:AC	acceptor_loss	1.0000
8:144163769:A:AG	acceptor_gain	1.0000
8:144163769:AGAT:A	acceptor_gain	1.0000
8:144163770:G:GG	acceptor_gain	1.0000
8:144163770:G:GT	acceptor_loss	1.0000
8:144163770:GATG:G	acceptor_gain	1.0000
8:144163844:GAAGA:G	donor_gain	1.0000
8:144163847:GA:G	donor_gain	1.0000
8:144163849:G:GG	donor_gain	1.0000
8:144168289:CTGCA:C	acceptor_loss	1.0000
8:144168292:CAG:C	acceptor_gain	1.0000
8:144168292:CAGAG:C	acceptor_loss	1.0000
8:144168293:A:AG	acceptor_gain	1.0000
8:144168293:AG:A	acceptor_loss	1.0000
8:144168293:AGA:A	acceptor_gain	1.0000
8:144168294:G:C	acceptor_gain	1.0000
8:144168294:G:GC	acceptor_gain	1.0000
8:144168294:GA:G	acceptor_gain	1.0000
8:144168294:GAGC:G	acceptor_gain	1.0000
8:144168294:GAGCT:G	acceptor_gain	1.0000
8:144179454:GCT:G	acceptor_gain	1.0000
8:144180149:T:A	acceptor_gain	1.0000
8:144180170:G:A	acceptor_gain	1.0000
8:144180423:A:AG	acceptor_gain	1.0000
8:144180424:G:GG	acceptor_gain	1.0000
8:144180424:GC:G	acceptor_gain	1.0000

AlphaMissense

10613 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144190912:T:A	W231R	0.997
8:144190912:T:C	W231R	0.997
8:144192309:A:C	S286R	0.996
8:144192311:C:A	S286R	0.996
8:144192311:C:G	S286R	0.996
8:144192325:T:C	L291P	0.996
8:144190798:A:C	S193R	0.995
8:144190800:C:A	S193R	0.995
8:144190800:C:G	S193R	0.995
8:144254829:T:A	W1149R	0.995
8:144254829:T:C	W1149R	0.995
8:144191736:G:C	A246P	0.994
8:144191751:A:C	S251R	0.994
8:144191753:C:A	S251R	0.994
8:144191753:C:G	S251R	0.994
8:144238813:A:C	S466R	0.994
8:144238815:C:A	S466R	0.994
8:144238815:C:G	S466R	0.994
8:144255608:A:C	S1232R	0.994
8:144255610:C:A	S1232R	0.994
8:144255610:C:G	S1232R	0.994
8:144192325:T:A	L291H	0.993
8:144238837:A:C	S474R	0.993
8:144238839:C:A	S474R	0.993
8:144238839:C:G	S474R	0.993
8:144190787:T:C	L189P	0.992
8:144191788:T:C	L263P	0.992
8:144200509:T:C	L370P	0.992
8:144191740:T:C	L247P	0.991
8:144191742:G:A	G248R	0.991

dbSNP variants (sampled 300 via entrez): RS1000054419 (8:144176213 A>G), RS1000058845 (8:144255558 C>A,T), RS1000087238 (8:144250910 C>T), RS1000118506 (8:144251049 A>C), RS1000137051 (8:144187536 A>T), RS1000153381 (8:144200589 G>A), RS1000201695 (8:144192041 C>T), RS1000211867 (8:144237242 C>T), RS1000333440 (8:144247088 G>A,C,T), RS1000349101 (8:144166018 A>G,T), RS1000394371 (8:144241966 C>A,T), RS1000399799 (8:144165699 T>C), RS1000427014 (8:144242147 G>T), RS1000429826 (8:144255405 G>A,C,T), RS1000483500 (8:144199223 C>A,G,T)

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

3 associations (top):

Study	Trait	p-value
GCST006249_14	Serum metabolite levels	8.000000e-51
GCST006249_95	Serum metabolite levels	2.000000e-15
GCST012226_759	Waist circumference adjusted for body mass index	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
Ozone	affects cotreatment, increases expression, increases abundance, affects expression	3
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Air Pollutants	increases abundance, increases expression, affects expression, affects cotreatment	2
Valproic Acid	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Vehicle Emissions	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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