NPIPA7

Summary

NPIPA7 (nuclear pore complex interacting protein family member A7, HGNC:41982) is a protein-coding gene on chromosome 16p13.11, encoding Nuclear pore complex-interacting protein family member A7 (E9PJI5).

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001282507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41982
Approved symbol	NPIPA7
Name	nuclear pore complex interacting protein family member A7
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214967
Ensembl biotype	protein_coding
Entrez	101059938

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000344087, ENST00000530217, ENST00000941805, ENST00000941806, ENST00000941807, ENST00000941808, ENST00000941809, ENST00000941810

RefSeq mRNA: 1 — MANE Select: NM_001282507 NM_001282507

CCDS: CCDS61864

Canonical transcript exons

ENST00000530217 — 8 exons

Exon	Start	End
ENSE00002146862	16383664	16383792
ENSE00002183165	16387399	16387498
ENSE00003481631	16391891	16391951
ENSE00003489318	16387662	16387806
ENSE00003540895	16390767	16390874
ENSE00003612167	16392061	16392096
ENSE00003978243	16393456	16393972
ENSE00003978244	16379140	16379307

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.78.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	96.78	gold quality
adenohypophysis	UBERON:0002196	96.78	gold quality
primary visual cortex	UBERON:0002436	95.30	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.07	gold quality
cerebellar cortex	UBERON:0002129	94.93	gold quality
cerebellum	UBERON:0002037	94.92	gold quality
cerebellar hemisphere	UBERON:0002245	94.81	gold quality
mucosa of transverse colon	UBERON:0004991	94.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.32	gold quality
right testis	UBERON:0004534	92.23	gold quality
right uterine tube	UBERON:0001302	91.74	gold quality
right lobe of thyroid gland	UBERON:0001119	91.08	gold quality
left testis	UBERON:0004533	90.95	gold quality
body of pancreas	UBERON:0001150	90.87	gold quality
thyroid gland	UBERON:0002046	90.62	gold quality
left lobe of thyroid gland	UBERON:0001120	90.52	gold quality
testis	UBERON:0000473	90.44	gold quality
right adrenal gland cortex	UBERON:0035827	90.02	gold quality
superior frontal gyrus	UBERON:0002661	89.93	gold quality
stromal cell of endometrium	CL:0002255	89.63	gold quality
spleen	UBERON:0002106	89.61	gold quality
cortex of kidney	UBERON:0001225	89.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.40	gold quality
fundus of stomach	UBERON:0001160	89.30	gold quality
right adrenal gland	UBERON:0001233	89.27	gold quality
right lobe of liver	UBERON:0001114	89.10	gold quality
metanephros cortex	UBERON:0010533	88.75	gold quality
transverse colon	UBERON:0001157	88.65	gold quality
rectum	UBERON:0001052	88.33	gold quality
right ovary	UBERON:0002118	88.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.21

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (19): NPIPB12 (ENSG00000169203), NPIPB3 (ENSG00000169246), NPIPA1 (ENSG00000183426), NPIPA5 (ENSG00000183793), NPIPA6 (ENSG00000183889), NPIPB4 (ENSG00000185864), NPIPB15 (ENSG00000196436), NPIPB9 (ENSG00000196993), NPIPB13 (ENSG00000198064), NPIPB6 (ENSG00000198156), NPIPA8 (ENSG00000214940), NPIPA3 (ENSG00000224712), NPIPA9 (ENSG00000233024), NPIPB7 (ENSG00000233232), NPIPB2 (ENSG00000234719), NPIPB5 (ENSG00000243716), NPIPB11 (ENSG00000254206), NPIPA2 (ENSG00000254852), NPIPB8 (ENSG00000255524)

Protein

Protein identifiers

Nuclear pore complex-interacting protein family member A7 — E9PJI5 (reviewed: E9PJI5)

All UniProt accessions (2): E9PJI5, H0Y2X3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the NPIP family.

RefSeq proteins (1): NP_001269436* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009443	NPIP	Family
IPR054697	NPIP_N	Domain

Pfam: PF06409

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-E9PJI5-F1	52.06	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): HOEK_NK_CELL_2011_2012_TIV_ADULT_3DY_UP, HE_LIM_SUN_FETAL_LUNG_C3_OMD_POS_ENDOTHELIAL_CELL, chr16p13

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

549 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NPIPA7	FAM76A	Q8TAV0	654
NPIPA7	PNMA6A	P0CW24	541
NPIPA7	ETFRF1	Q6IPR1	507
NPIPA7	ECT2L	Q008S8	506
NPIPA7	TC2N	Q8N9U0	448
NPIPA7	CD300LD	Q6UXZ3	447
NPIPA7	PLEKHB2	Q96CS7	435
NPIPA7	GALNT4	Q8N4A0	399
NPIPA7	NGLY1	Q96IV0	354
NPIPA7	NUDT8	Q8WV74	353
NPIPA7	COX15	Q7KZN9	338
NPIPA7	GEMIN4	P57678	324
NPIPA7	PLS3	P13797	297
NPIPA7	CELF2	O95319	267
NPIPA7	CCDC12	Q8WUD4	262

IntAct

7 interactions, top by confidence:

A	B	Type	Score
NPIPA7	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
NPIPA7	TRAF4	psi-mi:“MI:0915”(physical association)	0.560
TRAF4	NPIPA7	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (1): NPIPA7 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B4J1W7, A0A7H0DN35, A4QN01, A6NHN6, A6NJ64, A8MQ11, E9PIF3, E9PJ23, E9PJI5, E9PKD4, E9PQR5, F5HGC2, F8W1W9, F8WFD2, O75200, O83374, P05913, P06486, P07396, P0C7Q2, P0CK47, P0CK48, P0DM63, P0DXC3, P15489, P16765, P16802, P20969, P36443, P38900, P47003, P68341, P68454, P68455, P87191, P92537, P92561, Q03418, Q32M92, Q4ZGE2

Diamond homologs: A0A0B4J1W7, A6NHN6, A6NJ64, A6NJU9, A8MRT5, C9JG80, E5RHQ5, E9PIF3, E9PJ23, E9PJI5, E9PKD4, E9PQR5, F8W0I5, F8W1W9, F8WFD2, O75200, P0DM63, P0DXC3, Q92617, Q9UND3, O70490, Q08AH1, Q08AH3, Q3UNX5, Q53FZ2, Q5REV5, Q68CK6, Q6AYT9, Q6NUN0, Q6SKG1, Q8BGA8, Q8K0L3, Q91VA0, Q9BEA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1111 predictions. Top by Δscore:

Variant	Effect	Δscore
16:16383711:TGG:T	donor_gain	1.0000
16:16383713:G:GT	donor_gain	1.0000
16:16383788:TTTGT:T	donor_gain	1.0000
16:16383789:TTGT:T	donor_gain	1.0000
16:16383791:GT:G	donor_gain	1.0000
16:16383793:G:GG	donor_gain	1.0000
16:16383794:T:TC	donor_loss	1.0000
16:16383795:GAGTA:G	donor_loss	1.0000
16:16383796:AGTA:A	donor_loss	1.0000
16:16387398:GGT:G	acceptor_gain	1.0000
16:16387473:G:GT	donor_gain	1.0000
16:16387494:GGAAG:G	donor_gain	1.0000
16:16387495:GAAGG:G	donor_gain	1.0000
16:16387496:A:T	donor_gain	1.0000
16:16387802:GAACA:G	donor_gain	1.0000
16:16387807:G:GG	donor_gain	1.0000
16:16390765:A:AG	acceptor_gain	1.0000
16:16390766:G:GG	acceptor_gain	1.0000
16:16390766:GTCT:G	acceptor_gain	1.0000
16:16390875:G:GG	donor_gain	1.0000
16:16391952:G:GG	donor_gain	1.0000
16:16383658:TTCCA:T	acceptor_loss	0.9900
16:16383659:TCCA:T	acceptor_loss	0.9900
16:16383660:CCAGG:C	acceptor_loss	0.9900
16:16383661:CAG:C	acceptor_loss	0.9900
16:16383662:A:G	acceptor_loss	0.9900
16:16383663:G:C	acceptor_loss	0.9900
16:16383663:GGTT:G	acceptor_gain	0.9900
16:16383712:GGA:G	donor_gain	0.9900
16:16387394:CCTA:C	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1003052961 (16:16387584 C>T), RS1004836112 (16:16387539 T>G), RS1004891623 (16:16390658 G>T), RS1008729081 (16:16386901 C>T), RS1009010242 (16:16386121 C>T), RS1011208435 (16:16382355 G>A,T), RS1014840641 (16:16387540 G>T), RS1015120509 (16:16387068 G>GTC,GTT), RS1018748892 (16:16386910 T>C), RS1019027429 (16:16386251 G>A), RS1020813637 (16:16386080 A>T), RS1021760374 (16:16390782 C>A,T), RS1027671761 (16:16386940 C>A,T), RS1028034582 (16:16386411 A>AGTGTAC), RS1034545345 (16:16387618 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	affects cotreatment, increases expression	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
perfluorooctane sulfonic acid	affects cotreatment, increases expression	1
perfluorobutanesulfonic acid	affects cotreatment, increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Tretinoin	decreases expression	1
Cadmium Chloride	increases abundance, decreases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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