ARMH1

Summary

ARMH1 (armadillo like helical domain containing 1, HGNC:34345) is a protein-coding gene on chromosome 1p34.1, encoding Armadillo-like helical domain containing protein 1 (Q6PIY5).

Located in cytosol and plasma membrane.

Source: NCBI Gene 339541 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_001145636

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34345
Approved symbol	ARMH1
Name	armadillo like helical domain containing 1
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC33556, p40
Ensembl gene	ENSG00000198520
Ensembl biotype	protein_coding
Entrez	339541

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 15 protein_coding, 8 retained_intron, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000357508, ENST00000418644, ENST00000418779, ENST00000421398, ENST00000424484, ENST00000427321, ENST00000427336, ENST00000434068, ENST00000434520, ENST00000440383, ENST00000441519, ENST00000444525, ENST00000444751, ENST00000445071, ENST00000446792, ENST00000453711, ENST00000455805, ENST00000458657, ENST00000535358, ENST00000568406, ENST00000648290, ENST00000884368, ENST00000884369, ENST00000884370, ENST00000884371, ENST00000884372, ENST00000884373, ENST00000884374, ENST00000943641

RefSeq mRNA: 1 — MANE Select: NM_001145636 NM_001145636

CCDS: CCDS53311

Canonical transcript exons

ENST00000535358 — 12 exons

Exon	Start	End
ENSE00003478841	44698063	44698229
ENSE00003484727	44724122	44724244
ENSE00003547048	44704089	44704173
ENSE00003549346	44724762	44724839
ENSE00003581027	44689676	44689903
ENSE00003591290	44697102	44697170
ENSE00003617208	44725291	44725591
ENSE00003620154	44725136	44725217
ENSE00003664726	44700923	44701119
ENSE00003846097	44674714	44674873
ENSE00003893586	44724320	44724392
ENSE00003894601	44724539	44724668

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 96.61.

FANTOM5 (CAGE): breadth broad, TPM avg 7.7814 / max 666.9883, expressed in 828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2627	6.2469	267
2625	1.1853	476
2626	0.3493	175

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.61	gold quality
granulocyte	CL:0000094	95.94	gold quality
monocyte	CL:0000576	94.37	gold quality
leukocyte	CL:0000738	93.96	gold quality
right lobe of liver	UBERON:0001114	90.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.03	gold quality
lymph node	UBERON:0000029	88.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.36	gold quality
vermiform appendix	UBERON:0001154	88.14	gold quality
blood	UBERON:0000178	87.92	gold quality
thymus	UBERON:0002370	87.85	gold quality
left testis	UBERON:0004533	87.83	gold quality
spleen	UBERON:0002106	87.56	gold quality
right testis	UBERON:0004534	87.53	gold quality
bone marrow	UBERON:0002371	86.79	gold quality
bronchial epithelial cell	CL:0002328	86.71	gold quality
bronchus	UBERON:0002185	85.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.57	gold quality
bone marrow cell	CL:0002092	84.87	gold quality
testis	UBERON:0000473	84.51	gold quality
caudate nucleus	UBERON:0001873	83.20	gold quality
adenohypophysis	UBERON:0002196	83.04	gold quality
putamen	UBERON:0001874	82.89	gold quality
nucleus accumbens	UBERON:0001882	82.68	gold quality
right frontal lobe	UBERON:0002810	82.61	gold quality
amygdala	UBERON:0001876	82.15	gold quality
pituitary gland	UBERON:0000007	82.05	gold quality
left ovary	UBERON:0002119	82.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.61	gold quality
anterior cingulate cortex	UBERON:0009835	81.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	96.27
E-HCAD-6	yes	34.17
E-MTAB-6701	yes	12.89
E-ANND-3	yes	8.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting ARMH1, 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-4297	98.77	66.95	2013
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-505-5P	97.01	65.54	778
HSA-MIR-4749-3P	96.40	66.24	798

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Armh1	ENSMUSG00000060268
rattus_norvegicus	Armh1	ENSRNOG00000031494

Protein

Protein identifiers

Armadillo-like helical domain containing protein 1 — Q6PIY5 (reviewed: Q6PIY5)

Alternative names: p40

All UniProt accessions (8): A0A3B3IRJ1, C9J477, C9J579, C9JA22, C9JCY2, Q6PIY5, F8WDG2, H7C5J1

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PIY5-1	1	yes
Q6PIY5-2	2

RefSeq proteins (1): NP_001139108* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR041090	DUF5578	Family

Pfam: PF17741

UniProt features (2 total): chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PIY5-F1	87.92	0.79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): chr1p34, DODD_NASOPHARYNGEAL_CARCINOMA_DN, STK33_DN, STK33_SKM_DN, ASH1L_TARGET_GENES, BARX1_TARGET_GENES, CBX7_TARGET_GENES, CEBPZ_TARGET_GENES, LHX9_TARGET_GENES, PRKDC_TARGET_GENES, UBN1_TARGET_GENES, ZFHX3_TARGET_GENES, ZNF322_TARGET_GENES, ZNF768_TARGET_GENES, ZNF92_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): cytosol (GO:0005829), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARMH1	ARMH2	H3BNL8	876
ARMH1	FAM162B	Q5T6X4	564
ARMH1	RAB19	A4D1S5	489
ARMH1	XKR9	Q5GH70	481
ARMH1	ARMH4	Q86TY3	480
ARMH1	TMEM53	Q6P2H8	479
ARMH1	COL6A5	A8TX70	470
ARMH1	GRIP2	Q9C0E4	457
ARMH1	SLC22A14	Q9Y267	398
ARMH1	NRBP2	Q9NSY0	379
ARMH1	CDIPT	O14735	354
ARMH1	RHBDD3	Q9Y3P4	348
ARMH1	CRLF2	Q9HC73	345
ARMH1	RNF220	Q5VTB9	336
ARMH1	F2RL2	O00254	292

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ARMH1	ABAT	psi-mi:“MI:0915”(physical association)	0.400
ARMH1	TUSC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): ABAT (Affinity Capture-MS), C1orf228 (Affinity Capture-RNA), ABAT (Affinity Capture-MS), HBB (Affinity Capture-MS), HBA2 (Affinity Capture-MS), CA1 (Affinity Capture-MS), TUSC2 (Affinity Capture-MS), C1orf228 (Negative Genetic), C1orf228 (Negative Genetic), C1orf228 (Protein-peptide)

ESM2 similar proteins: A0A2R8VHF7, A0JM23, A2QRA0, A4IIA7, A4IIV4, A6NFN9, A6NHR9, A7MBF6, F4IG73, F4JSE7, O17482, O95876, P12540, P21784, P34089, P38899, P55895, P56696, Q08AW4, Q0D2D7, Q12789, Q13829, Q28DC9, Q2WGJ8, Q3E7Y5, Q3UUE9, Q4R907, Q4VXA5, Q5BK83, Q5EA90, Q5F476, Q5HZS2, Q5M9F0, Q5RAX4, Q5RBH4, Q5RD21, Q6AYL6, Q6DGA7, Q6PIY5, Q70XZ2

Diamond homologs: A7MBF6, Q6PIY5

SIGNOR signaling

0 interactions.

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	11
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2300 predictions. Top by Δscore:

Variant	Effect	Δscore
1:44674871:G:GT	donor_gain	1.0000
1:44700922:GGT:G	acceptor_gain	1.0000
1:44704082:T:TA	acceptor_gain	1.0000
1:44704083:G:A	acceptor_gain	1.0000
1:44724120:A:AG	acceptor_gain	1.0000
1:44724121:G:GG	acceptor_gain	1.0000
1:44724121:GCC:G	acceptor_gain	1.0000
1:44724242:GTG:G	donor_gain	1.0000
1:44724242:GTGGT:G	donor_loss	1.0000
1:44724243:TG:T	donor_gain	1.0000
1:44724243:TGG:T	donor_loss	1.0000
1:44724244:GG:G	donor_gain	1.0000
1:44724244:GGT:G	donor_loss	1.0000
1:44724245:G:GG	donor_gain	1.0000
1:44724245:G:T	donor_loss	1.0000
1:44724246:TAA:T	donor_loss	1.0000
1:44724666:G:GT	donor_gain	1.0000
1:44725289:A:AG	acceptor_gain	1.0000
1:44725290:G:GG	acceptor_gain	1.0000
1:44725290:GCCCT:G	acceptor_gain	1.0000
1:44674873:GG:G	donor_loss	0.9900
1:44674874:GTAT:G	donor_loss	0.9900
1:44674875:T:G	donor_loss	0.9900
1:44689674:A:AG	acceptor_gain	0.9900
1:44689675:G:GG	acceptor_gain	0.9900
1:44700919:TCAG:T	acceptor_loss	0.9900
1:44700920:CAGGT:C	acceptor_loss	0.9900
1:44700921:A:AG	acceptor_gain	0.9900
1:44700921:AGG:A	acceptor_loss	0.9900
1:44700922:G:GC	acceptor_loss	0.9900

AlphaMissense

2877 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:44689755:T:A	W20R	0.995
1:44689755:T:C	W20R	0.995
1:44689837:T:C	L47P	0.992
1:44701017:T:A	N179K	0.992
1:44701017:T:G	N179K	0.992
1:44701097:T:C	L206P	0.991
1:44724143:T:C	L249P	0.991
1:44701106:T:C	L209P	0.990
1:44701049:T:C	L190P	0.989
1:44704173:G:C	A242P	0.989
1:44724377:C:A	A302D	0.989
1:44724652:C:A	A345D	0.988
1:44689757:G:C	W20C	0.987
1:44689757:G:T	W20C	0.987
1:44724380:C:A	A303D	0.987
1:44724639:A:C	S341R	0.987
1:44724641:C:A	S341R	0.987
1:44724641:C:G	S341R	0.987
1:44698173:T:C	L129P	0.985
1:44698207:G:C	K140N	0.985
1:44698207:G:T	K140N	0.985
1:44701106:T:A	L209H	0.985
1:44724376:G:C	A302P	0.984
1:44724646:G:C	R343P	0.984
1:44724654:A:C	S346R	0.984
1:44724656:C:A	S346R	0.984
1:44724656:C:G	S346R	0.984
1:44698217:T:C	C144R	0.983
1:44701091:T:C	L204P	0.983
1:44724182:T:C	L262P	0.982

dbSNP variants (sampled 300 via entrez): RS1000019955 (1:44722199 G>C), RS1000081329 (1:44703396 G>A), RS1000106877 (1:44692864 A>C), RS1000171892 (1:44707696 A>G), RS1000236594 (1:44700476 C>A,G), RS1000265305 (1:44707364 T>C), RS1000266514 (1:44675785 C>A), RS1000276616 (1:44718417 A>G), RS1000306677 (1:44705887 C>T), RS1000330214 (1:44722433 G>A,T), RS1000338593 (1:44706381 G>C), RS1000468939 (1:44713098 T>C), RS1000542082 (1:44709911 G>A,T), RS1000599463 (1:44708958 A>G), RS1000643809 (1:44704328 T>A,C)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenate	decreases expression, increases abundance	1
hydroxyhydroquinone	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Arsenic	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Phthalic Acids	increases methylation	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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