MAJIN

Summary

MAJIN (membrane anchored junction protein, HGNC:27441) is a protein-coding gene on chromosome 11q13.1, encoding Membrane-anchored junction protein (Q3KP22). Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis.

Predicted to enable DNA binding activity. Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane.

Source: NCBI Gene 283129 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001037225

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27441
Approved symbol	MAJIN
Name	membrane anchored junction protein
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168070
Ensembl biotype	protein_coding
OMIM	617130
Entrez	283129

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000301896, ENST00000432175, ENST00000530287, ENST00000530444, ENST00000530735, ENST00000532617, ENST00000867004, ENST00000867005

RefSeq mRNA: 3 — MANE Select: NM_001037225 NM_001037225, NM_001300803, NM_001318808

CCDS: CCDS31603, CCDS73316

Canonical transcript exons

ENST00000301896 — 11 exons

Exon	Start	End
ENSE00001274839	64960089	64960135
ENSE00001473250	64954757	64954802
ENSE00001664406	64938230	64938573
ENSE00002435706	64971877	64972108
ENSE00003479295	64959305	64959422
ENSE00003549502	64947374	64947465
ENSE00003561788	64949743	64949868
ENSE00003566431	64947788	64947819
ENSE00003635744	64940574	64940646
ENSE00003675732	64939662	64939767
ENSE00003687192	64950355	64950430

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 92.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3034 / max 84.3529, expressed in 94 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120514	0.2001	68
120513	0.0639	23
120512	0.0394	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	92.33	gold quality
left testis	UBERON:0004533	91.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.88	gold quality
testis	UBERON:0000473	88.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.76	gold quality
pancreatic ductal cell	CL:0002079	84.85	silver quality
tibialis anterior	UBERON:0001385	78.05	silver quality
cardiac muscle of right atrium	UBERON:0003379	74.72	gold quality
left ventricle myocardium	UBERON:0006566	74.57	gold quality
sperm	CL:0000019	74.56	gold quality
oocyte	CL:0000023	74.21	silver quality
gall bladder	UBERON:0002110	73.32	gold quality
secondary oocyte	CL:0000655	70.42	silver quality
deltoid	UBERON:0001476	69.60	gold quality
quadriceps femoris	UBERON:0001377	69.17	gold quality
kidney epithelium	UBERON:0004819	68.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	68.91	gold quality
epithelial cell of pancreas	CL:0000083	68.41	gold quality
vastus lateralis	UBERON:0001379	68.34	gold quality
ileal mucosa	UBERON:0000331	66.18	silver quality
biceps brachii	UBERON:0001507	65.37	gold quality
right uterine tube	UBERON:0001302	64.50	gold quality
nasal cavity epithelium	UBERON:0005384	63.86	gold quality
upper arm skin	UBERON:0004263	63.82	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	63.61	gold quality
parotid gland	UBERON:0001831	63.38	gold quality
adult organism	UBERON:0007023	63.23	gold quality
right lobe of liver	UBERON:0001114	62.82	gold quality
myocardium	UBERON:0002349	61.10	gold quality
lymph node	UBERON:0000029	60.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting MAJIN, 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-371A-3P	99.99	66.77	91
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4999-3P	99.11	65.55	424
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-4661-3P	96.81	66.02	342
HSA-MIR-571	95.38	66.54	671

Literature-anchored findings (GeneRIF, showing 2)

• complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate. (PMID:30559341)
• The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope (PMID:30718482)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	MAJIN	ENSDARG00000105594
mus_musculus	Majin	ENSMUSG00000024786
rattus_norvegicus	Majin	ENSRNOG00000054336

Protein

Protein identifiers

Membrane-anchored junction protein — Q3KP22 (reviewed: Q3KP22)

All UniProt accessions (3): Q3KP22, E9PRZ4, H0YEC1

UniProt curated annotations — full annotation on UniProt →

Function. Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.

Subunit / interactions. Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2.

Subcellular location. Nucleus inner membrane. Chromosome. Telomere.

Similarity. Belongs to the MAJIN family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q3KP22-1	3	yes
Q3KP22-3	1
Q3KP22-4	2

RefSeq proteins (3): NP_001032302, NP_001287732, NP_001305737 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027816	MAJIN	Family

Pfam: PF15077

UniProt features (16 total): splice variant 4, strand 3, topological domain 2, helix 2, compositionally biased region 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6GNY	X-RAY DIFFRACTION	1.85
6GNX	X-RAY DIFFRACTION	2.9
6J08	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3KP22-F1	61.47	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, chr11q13, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION

GO Biological Process (8): homologous chromosome pairing at meiosis (GO:0007129), spermatogenesis (GO:0007283), meiotic telomere clustering (GO:0045141), oogenesis (GO:0048477), meiotic attachment of telomere to nuclear envelope (GO:0070197), protein localization to nuclear envelope (GO:0090435), double-strand break repair involved in meiotic recombination (GO:1990918), meiotic cell cycle (GO:0051321)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (7): chromosome, telomeric region (GO:0000781), nuclear inner membrane (GO:0005637), nuclear membrane (GO:0031965), nucleus (GO:0005634), nuclear envelope (GO:0005635), chromosome (GO:0005694), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chromosome organization involved in meiotic cell cycle	2
meiotic cell cycle process	2
nucleus	2
homologous chromosome segregation	1
developmental process involved in reproduction	1
male gamete generation	1
telomere localization	1
chromosome localization to nuclear envelope involved in homologous chromosome segregation	1
germ cell development	1
female gamete generation	1
meiotic telomere tethering at nuclear periphery	1
chromosome attachment to the nuclear envelope	1
protein localization to nucleus	1
double-strand break repair	1
reciprocal meiotic recombination	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
nucleic acid binding	1
binding	1
chromosomal region	1
organelle inner membrane	1
nuclear membrane	1
nuclear envelope	1
organelle membrane	1
intracellular membrane-bounded organelle	1
endomembrane system	1
organelle envelope	1
intracellular membraneless organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

3 interactions, top by confidence:

A	B	Type	Score
MAJIN	CRYBB3	psi-mi:“MI:0914”(association)	0.560
MAJIN	CRYBB3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (11): CRYBB3 (Affinity Capture-MS), PLK1 (Affinity Capture-MS), C11orf85 (Two-hybrid), C11orf85 (Two-hybrid), C11orf85 (Two-hybrid), C11orf85 (Two-hybrid), C11orf85 (Two-hybrid), TRIM69 (Two-hybrid), CRYBB3 (Affinity Capture-MS), C11orf85 (Affinity Capture-MS), C11orf85 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTR3, A0A7H0DN82, A7RR34, E9PVX6, O14598, O60356, O60829, O94243, P04605, P04614, P05909, P0C1K0, P0C765, P0C766, P0DPH9, P17285, P17759, P18098, P19416, P20290, P24109, P46012, P46583, Q06428, Q07555, Q08561, Q09821, Q1L9C7, Q32PF3, Q3KP22, Q5M948, Q5M951, Q5MJ08, Q5RCI9, Q6P8I4, Q758T8, Q76632, Q7M2N1, Q7TP40, Q80WR5

Diamond homologs: Q3KP22, Q6AYM7, Q9D992

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SUN1	“up-regulates activity”	MAJIN	binding
MAJIN	“form complex”	“TTM complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1538 predictions. Top by Δscore:

Variant	Effect	Δscore
11:64939656:TCTTA:T	donor_loss	1.0000
11:64939657:CTTAC:C	donor_loss	1.0000
11:64939658:TTACC:T	donor_loss	1.0000
11:64939659:TACC:T	donor_loss	1.0000
11:64939660:A:C	donor_loss	1.0000
11:64939661:C:A	donor_loss	1.0000
11:64939764:GAATC:G	acceptor_loss	1.0000
11:64939766:ATC:A	acceptor_loss	1.0000
11:64939767:TC:T	acceptor_loss	1.0000
11:64939768:C:CC	acceptor_gain	1.0000
11:64939769:T:G	acceptor_loss	1.0000
11:64954711:T:TA	donor_gain	1.0000
11:64938556:C:CT	acceptor_gain	0.9900
11:64938569:GAGAG:G	acceptor_gain	0.9900
11:64938570:AGAG:A	acceptor_gain	0.9900
11:64938571:GAG:G	acceptor_gain	0.9900
11:64938574:C:CC	acceptor_gain	0.9900
11:64938575:T:G	acceptor_loss	0.9900
11:64939660:A:AC	donor_gain	0.9900
11:64939661:C:CC	donor_gain	0.9900
11:64939763:AGAAT:A	acceptor_gain	0.9900
11:64939764:GAAT:G	acceptor_gain	0.9900
11:64939766:AT:A	acceptor_gain	0.9900
11:64940569:CCTA:C	donor_loss	0.9900
11:64940570:CTA:C	donor_loss	0.9900
11:64940571:TACC:T	donor_loss	0.9900
11:64940572:A:T	donor_loss	0.9900
11:64940642:CTATT:C	acceptor_gain	0.9900
11:64954803:C:CC	acceptor_gain	0.9900
11:64938572:AG:A	acceptor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000099898 (11:64973325 A>G,T), RS1000120320 (11:64969611 G>A,C), RS1000232716 (11:64947928 C>T), RS1000937297 (11:64942331 T>C), RS1001034212 (11:64949959 C>A,G,T), RS1001100370 (11:64968259 T>C), RS1001107354 (11:64949623 T>C), RS1001176386 (11:64955513 T>C), RS1001201722 (11:64967627 G>A), RS1001216584 (11:64950212 C>T), RS1001269998 (11:64957049 G>A), RS1001298533 (11:64973675 T>A,C), RS1001343813 (11:64956859 C>T), RS1001625384 (11:64970000 T>G), RS1001684342 (11:64973432 G>A)

Disease associations

OMIM: gene MIM:617130 | 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
GCST012020_219	Serum metabolite levels	4.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
butyraldehyde	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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