NEMP1

Summary

NEMP1 (nuclear envelope integral membrane protein 1, HGNC:29001) is a protein-coding gene on chromosome 12q13.3, encoding Nuclear envelope integral membrane protein 1 (O14524). Together with EMD, contributes to nuclear envelope stiffness in germ cells.

Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope.

Source: NCBI Gene 23306 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001130963

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29001
Approved symbol	NEMP1
Name	nuclear envelope integral membrane protein 1
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0286
Ensembl gene	ENSG00000166881
Ensembl biotype	protein_coding
OMIM	616496
Entrez	23306

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000300128, ENST00000379391, ENST00000553654, ENST00000554340, ENST00000879333, ENST00000879334, ENST00000926710, ENST00000926711, ENST00000926712

RefSeq mRNA: 2 — MANE Select: NM_001130963 NM_001130963, NM_015257

CCDS: CCDS31841, CCDS44927

Canonical transcript exons

ENST00000300128 — 9 exons

Exon	Start	End
ENSE00001107400	57078619	57078791
ENSE00001107411	57064071	57064185
ENSE00002493888	57055643	57060059
ENSE00003537754	57072788	57072912
ENSE00003593230	57070674	57070893
ENSE00003593955	57069234	57069306
ENSE00003622463	57063119	57063344
ENSE00003654208	57064646	57064739
ENSE00003664482	57060772	57060945

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 94.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.1131 / max 220.8713, expressed in 1692 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131625	9.2774	1667
131626	1.8121	855
131628	0.0236	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.34	gold quality
secondary oocyte	CL:0000655	93.95	gold quality
buccal mucosa cell	CL:0002336	93.64	gold quality
ventricular zone	UBERON:0003053	92.90	gold quality
ganglionic eminence	UBERON:0004023	86.48	gold quality
embryo	UBERON:0000922	86.11	gold quality
upper leg skin	UBERON:0004262	84.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.04	gold quality
skin of hip	UBERON:0001554	83.76	gold quality
colonic epithelium	UBERON:0000397	82.85	gold quality
stromal cell of endometrium	CL:0002255	82.13	gold quality
mucosa of stomach	UBERON:0001199	82.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.87	gold quality
trabecular bone tissue	UBERON:0002483	80.69	gold quality
skin of abdomen	UBERON:0001416	80.43	gold quality
skin of leg	UBERON:0001511	80.41	gold quality
lymph node	UBERON:0000029	79.91	gold quality
tibial artery	UBERON:0007610	79.90	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	79.90	gold quality
popliteal artery	UBERON:0002250	79.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.63	gold quality
lower esophagus	UBERON:0013473	79.60	gold quality
body of uterus	UBERON:0009853	79.47	gold quality
ovary	UBERON:0000992	79.44	gold quality
vermiform appendix	UBERON:0001154	79.39	gold quality
artery	UBERON:0001637	79.28	gold quality
placenta	UBERON:0001987	79.15	gold quality
rectum	UBERON:0001052	79.06	gold quality
zone of skin	UBERON:0000014	79.00	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ENAD-17	yes	277.09
E-ANND-3	yes	4.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting NEMP1, 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-4481	100.00	66.42	1669
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163

Literature-anchored findings (GeneRIF, showing 2)

• NEMP1 shows responsibility for the resistance of tamoxifen through regulating NCOA1 in breast cancer cells (PMID:31079234)
• Study observes that TMEM194A overexpression is associated with considerable augmentation of cell proliferation, which strongly supported its oncogenic role in breast cancer cells. TMEM194A functions in separation of centrosomes from the nuclear envelope. However, its expression is negatively regulated by miR-1285 in breast cancer cells. (PMID:31854049)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nemp1	ENSDARG00000073899
mus_musculus	Nemp1	ENSMUSG00000040195
rattus_norvegicus	Nemp1	ENSRNOG00000046492
drosophila_melanogaster	Nemp	FBGN0030768
caenorhabditis_elegans		WBGENE00017328

Paralogs (1): NEMP2 (ENSG00000189362)

Protein

Protein identifiers

Nuclear envelope integral membrane protein 1 — O14524 (reviewed: O14524)

All UniProt accessions (2): O14524, G3V5K2

UniProt curated annotations — full annotation on UniProt →

Function. Together with EMD, contributes to nuclear envelope stiffness in germ cells. Required for female fertility. Essential for normal erythropoiesis. Required for efficient nuclear envelope opening and enucleation during the late stages of erythroblast maturation.

Subunit / interactions. Homooligomer. Interacts with RAN-GTP. Interacts with EMD.

Subcellular location. Nucleus inner membrane. Nucleus envelope.

Post-translational modifications. Phosphorylation may regulate its interaction with RAN-GTP.

Domain organisation. The transmembrane domains are required and sufficient for its oligomerization.

Similarity. Belongs to the NEMP family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14524-1	1	yes
O14524-2	2

RefSeq proteins (2): NP_001124435, NP_056072 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019358	NEMP_fam	Family

Pfam: PF10225

UniProt features (17 total): transmembrane region 5, modified residue 3, region of interest 3, signal peptide 1, chain 1, glycosylation site 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14524-F1	76.28	0.30

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 (3): 368, 424, 425

Glycosylation sites (1): 125

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 220 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, KANG_DOXORUBICIN_RESISTANCE_UP, GOBP_MYELOID_CELL_HOMEOSTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_ERYTHROCYTE_HOMEOSTASIS, PUJANA_CHEK2_PCC_NETWORK, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_NUCLEUS_ORGANIZATION, GOBP_ERYTHROCYTE_MATURATION, LIAO_METASTASIS, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (3): erythrocyte enucleation (GO:0043131), erythrocyte maturation (GO:0043249), nuclear membrane organization (GO:0071763)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nuclear envelope (GO:0005635), nuclear inner membrane (GO:0005637), nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
enucleate erythrocyte maturation	1
enucleation	1
cell maturation	1
erythrocyte development	1
nuclear envelope organization	1
membrane organization	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
organelle inner membrane	1
nuclear membrane	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NEMP1	UBALD1	Q8TB05	646
NEMP1	H3BQK0	H3BQK0	545
NEMP1	CCDC150	Q8NCX0	542
NEMP1	DEPDC1B	Q8WUY9	532
NEMP1	CCDC77	Q9BR77	530
NEMP1	PANK2	Q9BZ23	499
NEMP1	CEP85	Q6P2H3	490
NEMP1	REEP4	Q9H6H4	487
NEMP1	CCDC34	Q96HJ3	475
NEMP1	GSTCD	Q8NEC7	473
NEMP1	GTF2E2	P29084	458
NEMP1	ZNF367	Q7RTV3	458
NEMP1	UBALD2	Q8IYN6	458
NEMP1	RIBC2	Q9H4K1	457
NEMP1	ARHGAP20	Q9P2F6	456

IntAct

33 interactions, top by confidence:

A	B	Type	Score
NEMP1	RGPD8	psi-mi:“MI:0914”(association)	0.640
ADCY9	NEMP1	psi-mi:“MI:0914”(association)	0.640
B2M	NEMP1	psi-mi:“MI:0914”(association)	0.640
NEMP1	RANGAP1	psi-mi:“MI:0914”(association)	0.640
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
RAN	NEMP2	psi-mi:“MI:0914”(association)	0.530
B2M	KPNA3	psi-mi:“MI:0914”(association)	0.530
FOXL1	DDX39A	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRC55	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TSPAN8	POTEF	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
KPNA2	NEMP1	psi-mi:“MI:0914”(association)	0.350
LYPD3	NEMP1	psi-mi:“MI:0914”(association)	0.350
ZACN	NEMP1	psi-mi:“MI:0914”(association)	0.350
TMEM95	NEMP1	psi-mi:“MI:0914”(association)	0.350
SLC22A9	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC23A1	NEMP1	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A8	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
SLC6A11	ILVBL	psi-mi:“MI:0914”(association)	0.350
DYRK2	POLRMT	psi-mi:“MI:2364”(proximity)	0.270
SOX6	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (122): TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), RGPD2 (Affinity Capture-MS), RGPD8 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), TMEM194A (Affinity Capture-MS), DLGAP5 (Affinity Capture-MS), RANBP2 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS)

ESM2 similar proteins: A1L3G9, A4FUN9, A7MBC7, B9X187, E7FE40, F1QYC4, O14524, O22752, O23693, P56695, P58021, Q059Y8, Q0P6H9, Q28EH9, Q28FG4, Q3KTM2, Q3UUQ7, Q5FVF4, Q5FWS4, Q5HZP8, Q5JW98, Q5R8Y6, Q5RDB4, Q5ZJY9, Q641M3, Q66HF2, Q66HG5, Q6GMB1, Q6ZQE4, Q75T13, Q765A7, Q7SY10, Q8BI36, Q8BXJ9, Q8C2L6, Q8NDZ6, Q8R100, Q8S403, Q93ZF5, Q94KB1

Diamond homologs: A1L3G9, A6NFY4, A7MBC7, B9X187, E7FE40, F1QYC4, O14524, P0C8N6, Q19293, Q28EH9, Q5RDB4, Q5ZJY9, Q6ZQE4, Q8CB65, Q9VXD6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1793 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57059931:T:TA	donor_gain	1.0000
12:57059934:T:TA	donor_gain	1.0000
12:57059949:T:TA	donor_gain	1.0000
12:57060055:CAAAT:C	acceptor_gain	1.0000
12:57060056:AAAT:A	acceptor_gain	1.0000
12:57060057:AAT:A	acceptor_gain	1.0000
12:57060058:AT:A	acceptor_gain	1.0000
12:57060058:ATC:A	acceptor_loss	1.0000
12:57060059:TC:T	acceptor_loss	1.0000
12:57060060:C:CC	acceptor_gain	1.0000
12:57060061:T:C	acceptor_loss	1.0000
12:57060956:C:CT	acceptor_gain	1.0000
12:57064737:CTT:C	acceptor_gain	1.0000
12:57070818:A:C	donor_gain	1.0000
12:57070892:ATC:A	acceptor_loss	1.0000
12:57070894:C:CC	acceptor_gain	1.0000
12:57070894:CT:C	acceptor_loss	1.0000
12:57070895:T:A	acceptor_loss	1.0000
12:57072910:CAG:C	acceptor_gain	1.0000
12:57072913:C:CC	acceptor_gain	1.0000
12:57072915:T:C	acceptor_gain	1.0000
12:57072915:T:TC	acceptor_gain	1.0000
12:57072917:A:AC	acceptor_gain	1.0000
12:57072917:A:C	acceptor_gain	1.0000
12:57072920:C:CT	acceptor_gain	1.0000
12:57059928:T:TA	donor_gain	0.9900
12:57059964:T:TA	donor_gain	0.9900
12:57060015:T:TA	donor_gain	0.9900
12:57060896:C:CC	acceptor_gain	0.9900
12:57060957:A:T	acceptor_gain	0.9900

AlphaMissense

2893 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:57063316:A:C	S261R	0.998
12:57063316:A:T	S261R	0.998
12:57063318:T:G	S261R	0.998
12:57060841:A:G	L362P	0.996
12:57064152:A:G	W225R	0.996
12:57064152:A:T	W225R	0.996
12:57060047:A:C	F389L	0.994
12:57060047:A:T	F389L	0.994
12:57060048:A:G	F389S	0.994
12:57060049:A:G	F389L	0.994
12:57060804:C:A	W374C	0.994
12:57060804:C:G	W374C	0.994
12:57060806:A:G	W374R	0.994
12:57060806:A:T	W374R	0.994
12:57060057:A:G	F386S	0.993
12:57060854:C:G	A358P	0.993
12:57072802:A:G	W80R	0.993
12:57072802:A:T	W80R	0.993
12:57060048:A:C	F389C	0.990
12:57060054:G:T	A387D	0.990
12:57070879:A:C	S89R	0.990
12:57070879:A:T	S89R	0.990
12:57070881:T:G	S89R	0.990
12:57060887:A:C	Y347D	0.989
12:57063237:C:G	G288R	0.989
12:57060055:C:G	A387P	0.988
12:57060838:C:G	R363P	0.988
12:57070727:A:G	L140P	0.988
12:57060027:A:G	L396P	0.987
12:57060886:T:G	Y347S	0.987

dbSNP variants (sampled 300 via entrez): RS1000197083 (12:57059173 C>T), RS1000224945 (12:57061624 C>T), RS1000231914 (12:57074137 T>G), RS1000287517 (12:57072180 A>G), RS1000401430 (12:57067465 T>G), RS1000430047 (12:57085316 A>T), RS1000486558 (12:57065470 C>A), RS1000549106 (12:57056317 T>C,G), RS1000776880 (12:57062566 T>A), RS1000826371 (12:57061321 T>G), RS1000826641 (12:57066917 T>C), RS1000998815 (12:57059950 C>T), RS1001227742 (12:57073133 T>C), RS1001399236 (12:57087109 C>G,T), RS1001439901 (12:57086818 T>C)

Disease associations

OMIM: gene MIM:616496 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002539_15	Schizophrenia	2.000000e-12
GCST006803_97	Schizophrenia	3.000000e-11
GCST007563_7	Allergic disease (asthma, hay fever or eczema)	1.000000e-09
GCST007564_27	Asthma or allergic disease (pleiotropy)	8.000000e-13
GCST008103_173	Bipolar disorder	7.000000e-06
GCST008916_110	Asthma	1.000000e-27
GCST008916_2	Asthma	2.000000e-08
GCST009798_10	Asthma	3.000000e-29
GCST010241_412	Apolipoprotein A1 levels	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
arsenite	decreases reaction, affects binding	1
sodium arsenite	increases abundance, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
tamibarotene	decreases expression	1
incobotulinumtoxinA	decreases expression	1
gardiquimod	increases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Lucanthone	decreases expression	1

Clinical trials (associated diseases)

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