AJM1

Summary

AJM1 (apical junction component 1 homolog, HGNC:37284) is a protein-coding gene on chromosome 9q34.3, encoding Apical junction component 1 homolog (C9J069). May be involved in the control of adherens junction integrity.

Predicted to be involved in cell-cell junction organization. Predicted to be located in adherens junction; apical plasma membrane; and cilium. Predicted to be active in apical junction complex and plasma membrane.

Source: NCBI Gene 389813 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001080482

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37284
Approved symbol	AJM1
Name	apical junction component 1 homolog
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	ajm-1
Ensembl gene	ENSG00000232434
Ensembl biotype	protein_coding
Entrez	389813

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000436881, ENST00000862412

RefSeq mRNA: 1 — MANE Select: NM_001080482 NM_001080482

CCDS: CCDS48059

Canonical transcript exons

ENST00000436881 — 3 exons

Exon	Start	End
ENSE00001719656	136844356	136848801
ENSE00003927311	136842478	136842589
ENSE00003931975	136844196	136844279

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 94.09.

FANTOM5 (CAGE): breadth broad, TPM avg 4.2767 / max 203.9290, expressed in 712 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99562	4.0594	699
99563	0.2173	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	94.09	gold quality
cerebellum	UBERON:0002037	92.69	gold quality
cerebellar cortex	UBERON:0002129	92.65	gold quality
cerebellar hemisphere	UBERON:0002245	92.59	gold quality
superior frontal gyrus	UBERON:0002661	87.44	gold quality
right frontal lobe	UBERON:0002810	87.22	gold quality
primary visual cortex	UBERON:0002436	86.93	gold quality
nucleus accumbens	UBERON:0001882	86.02	gold quality
anterior cingulate cortex	UBERON:0009835	85.69	gold quality
Ammon’s horn	UBERON:0001954	85.43	gold quality
temporal lobe	UBERON:0001871	85.20	gold quality
amygdala	UBERON:0001876	85.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.98	gold quality
putamen	UBERON:0001874	84.94	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.79	gold quality
brain	UBERON:0000955	84.51	gold quality
pituitary gland	UBERON:0000007	84.37	gold quality
caudate nucleus	UBERON:0001873	84.09	gold quality
cerebral cortex	UBERON:0000956	83.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.21	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.08	gold quality
lower esophagus	UBERON:0013473	83.04	gold quality
frontal cortex	UBERON:0001870	82.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.30	gold quality
adenohypophysis	UBERON:0002196	81.74	gold quality
granulocyte	CL:0000094	81.40	gold quality
popliteal artery	UBERON:0002250	81.27	gold quality
tibial artery	UBERON:0007610	81.24	gold quality
hypothalamus	UBERON:0001898	80.56	gold quality
apex of heart	UBERON:0002098	79.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	unm_hu7912	ENSDARG00000076873
mus_musculus	Ajm1	ENSMUSG00000029419
rattus_norvegicus	Ajm1	ENSRNOG00000033863

Protein

Protein identifiers

Apical junction component 1 homolog — C9J069 (reviewed: C9J069)

All UniProt accessions (1): C9J069

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the control of adherens junction integrity.

Subcellular location. Apical cell membrane. Cell projection. Cilium. Cell junction. Adherens junction.

RefSeq proteins (1): NP_001073951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038825	Apical_junction	Family
IPR058586	Ajm-1	Domain

Pfam: PF26649

UniProt features (21 total): region of interest 8, modified residue 8, compositionally biased region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9J069-F1	53.13	0.14

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 (8): 52, 129, 322, 468, 509, 512, 749, 749

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 35 (showing top): GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_APICAL_PLASMA_MEMBRANE, GOCC_CELL_CELL_JUNCTION, GOCC_APICAL_PART_OF_CELL, GOCC_ANCHORING_JUNCTION, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CILIUM, MEISSNER_NPC_HCP_WITH_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, GOBP_CELL_CELL_JUNCTION_ORGANIZATION, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP, chr9q34

GO Biological Process (1): cell-cell junction organization (GO:0045216)

GO Molecular Function (0):

GO Cellular Component (8): plasma membrane (GO:0005886), adherens junction (GO:0005912), cilium (GO:0005929), apical plasma membrane (GO:0016324), apical junction complex (GO:0043296), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell junction	2
cellular anatomical structure	2
cell junction organization	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
apical part of cell	1
plasma membrane region	1
cell junction	1

Protein interactions and networks

STRING

433 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AJM1	UNC119	Q13432	741
AJM1	TMEM47	Q9BQJ4	722
AJM1	CLCN1	P35523	567
AJM1	PMP2	P02689	542
AJM1	ZNF362	Q5T0B9	523
AJM1	VASP	P50552	517
AJM1	HSCB	Q8IWL3	507
AJM1	CDH17	Q12864	478
AJM1	AACS	Q86V21	469
AJM1	CTNND1	O60716	469
AJM1	SCRIB	Q14160	452
AJM1	STOML1	Q9UBI4	452
AJM1	DLG1	Q12959	441
AJM1	SYS1	Q8N2H4	418
AJM1	CASK	O14936	408

IntAct

0 interactions, top by confidence:

BioGRID (4): C9orf172 (Affinity Capture-RNA), C9orf172 (Affinity Capture-MS), C9orf172 (Affinity Capture-MS), C9orf172 (Affinity Capture-MS)

ESM2 similar proteins: A2A699, A2A9T0, A2AEV7, A2AJA9, A6NKL6, A6NL88, A7MCY6, A8MVW0, C9J069, E9PZZ1, J3QNX5, O14492, O14511, O15169, O35615, O43541, O94983, P0C7U0, Q02779, Q03484, Q148V8, Q3SX20, Q5BJT1, Q5JTD0, Q5JU85, Q63HR2, Q66H43, Q66L44, Q69YU3, Q6DG50, Q6PDH0, Q6R6L0, Q6ZRV2, Q75VX8, Q7TN12, Q80VC9, Q80Y50, Q86UU1, Q8C3Q5, Q8C8T7

Diamond homologs: A0A1C3NSL9, A2AJA9, C9J069

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

6 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136847341:T:G	donor_gain	0.5200
9:136847346:G:GT	donor_gain	0.4100
9:136844473:T:TA	donor_gain	0.3600
9:136844474:G:GA	donor_gain	0.3500
9:136844508:T:G	donor_gain	0.3100
9:136844696:GA:G	donor_gain	0.2300

AlphaMissense

6163 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136845925:C:A	A504D	1.000
9:136846012:T:A	I533N	1.000
9:136846012:T:C	I533T	1.000
9:136846012:T:G	I533S	1.000
9:136846018:T:A	I535N	1.000
9:136846018:T:C	I535T	1.000
9:136846018:T:G	I535S	1.000
9:136846407:T:C	C665R	1.000
9:136846409:C:G	C665W	1.000
9:136846422:T:C	C670R	1.000
9:136846464:A:G	K684E	1.000
9:136846466:G:C	K684N	1.000
9:136846466:G:T	K684N	1.000
9:136846470:T:C	C686R	1.000
9:136846471:G:A	C686Y	1.000
9:136846471:G:T	C686F	1.000
9:136846472:C:G	C686W	1.000
9:136846479:T:C	C689R	1.000
9:136846480:G:A	C689Y	1.000
9:136846481:C:G	C689W	1.000
9:136846494:T:C	C694R	1.000
9:136846495:G:A	C694Y	1.000
9:136846496:C:G	C694W	1.000
9:136846506:T:A	C698S	1.000
9:136846506:T:C	C698R	1.000
9:136846507:G:A	C698Y	1.000
9:136846507:G:C	C698S	1.000
9:136846508:C:G	C698W	1.000
9:136846521:T:A	W703R	1.000
9:136846521:T:C	W703R	1.000

dbSNP variants (sampled 300 via entrez): RS1001107357 (9:136844776 A>G), RS1001213561 (9:136849208 G>A,C), RS1001266011 (9:136848930 G>A,C), RS1001336933 (9:136840759 G>A,C), RS1002205860 (9:136841096 C>A,G,T), RS1002316479 (9:136844219 G>A), RS1002376232 (9:136849211 T>C), RS1002612359 (9:136843281 C>T), RS1002673010 (9:136842884 C>G), RS1002755557 (9:136843970 C>T), RS1002789223 (9:136848292 G>A,C), RS1002887387 (9:136848107 C>G,T), RS1002939500 (9:136847922 G>A,C), RS1003053524 (9:136843007 TGGG>T,TGG,TGGGG), RS1003946878 (9:136847717 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
fluorene-9-bisphenol	decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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