NPIPA6

Summary

NPIPA6 (nuclear pore complex interacting protein family, member A6, HGNC:27893) is a protein-coding gene on chromosome 16p13.11, encoding Nuclear pore complex-interacting protein family member A6 (P0DXC3).

At a glance

• MANE Select transcript: NM_001423836

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27893
Approved symbol	NPIPA6
Name	nuclear pore complex interacting protein family, member A6
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183889
Ensembl biotype	protein_coding
Entrez	131675794

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding_CDS_not_defined, 5 protein_coding, 2 retained_intron

ENST00000283050, ENST00000381497, ENST00000524823, ENST00000527703, ENST00000534258, ENST00000535961, ENST00000536260, ENST00000537085, ENST00000537112, ENST00000538085, ENST00000540039, ENST00000959879, ENST00000959880

RefSeq mRNA: 1 — MANE Select: NM_001423836 NM_001423836

Canonical transcript exons

ENST00000381497 — 10 exons

Exon	Start	End
ENSE00001488822	16350092	16350608
ENSE00001615311	16331877	16331980
ENSE00001762325	16335861	16335992
ENSE00003299325	16333647	16333884
ENSE00003544964	16348697	16348732
ENSE00003642048	16340306	16340434
ENSE00003683531	16344045	16344144
ENSE00003689352	16344308	16344452
ENSE00003724749	16348527	16348587
ENSE00003738933	16347403	16347510

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.92.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.92	gold quality
cerebellum	UBERON:0002037	99.90	gold quality
cerebellar cortex	UBERON:0002129	99.90	gold quality
cerebellar hemisphere	UBERON:0002245	99.90	gold quality
primary visual cortex	UBERON:0002436	99.82	gold quality
pituitary gland	UBERON:0000007	99.69	gold quality
right frontal lobe	UBERON:0002810	99.65	gold quality
superior frontal gyrus	UBERON:0002661	99.63	gold quality
adenohypophysis	UBERON:0002196	99.53	gold quality
right testis	UBERON:0004534	99.47	gold quality
mucosa of stomach	UBERON:0001199	99.43	gold quality
Ammon’s horn	UBERON:0001954	99.43	gold quality
left testis	UBERON:0004533	99.39	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.36	gold quality
lower esophagus	UBERON:0013473	99.34	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.34	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.29	gold quality
anterior cingulate cortex	UBERON:0009835	99.25	gold quality
left ovary	UBERON:0002119	99.24	gold quality
right ovary	UBERON:0002118	99.22	gold quality
right coronary artery	UBERON:0001625	99.21	gold quality
left uterine tube	UBERON:0001303	99.19	gold quality
amygdala	UBERON:0001876	99.18	gold quality
temporal lobe	UBERON:0001871	99.17	gold quality
ventricular zone	UBERON:0003053	99.16	gold quality
hypothalamus	UBERON:0001898	99.13	gold quality
right lung	UBERON:0002167	99.12	gold quality
right lobe of thyroid gland	UBERON:0001119	99.10	gold quality
cortical plate	UBERON:0005343	99.09	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.82

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (19): NPIPB12 (ENSG00000169203), NPIPB3 (ENSG00000169246), NPIPA1 (ENSG00000183426), NPIPA5 (ENSG00000183793), NPIPB4 (ENSG00000185864), NPIPB15 (ENSG00000196436), NPIPB9 (ENSG00000196993), NPIPB13 (ENSG00000198064), NPIPB6 (ENSG00000198156), NPIPA8 (ENSG00000214940), NPIPA7 (ENSG00000214967), 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 A6 — P0DXC3 (reviewed: P0DXC3)

All UniProt accessions (3): P0DXC3, H0YED6, H0YEP2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the NPIP family.

RefSeq proteins (1): NP_001410765* (*=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-P0DXC3-F1	50.47	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr16p13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

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

0 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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1313 predictions. Top by Δscore:

Variant	Effect	Δscore
16:16333642:TGCAG:T	acceptor_loss	1.0000
16:16333643:GCAGG:G	acceptor_loss	1.0000
16:16333644:CAG:C	acceptor_loss	1.0000
16:16333646:G:GA	acceptor_loss	1.0000
16:16340353:TGG:T	donor_gain	1.0000
16:16340355:G:GT	donor_gain	1.0000
16:16340430:TTTGT:T	donor_gain	1.0000
16:16340431:TTGT:T	donor_gain	1.0000
16:16340432:TGTGT:T	donor_loss	1.0000
16:16340433:GT:G	donor_gain	1.0000
16:16340433:GTGTG:G	donor_loss	1.0000
16:16340434:TG:T	donor_loss	1.0000
16:16340435:G:GA	donor_loss	1.0000
16:16340435:G:GG	donor_gain	1.0000
16:16340436:TGAG:T	donor_loss	1.0000
16:16340437:GAGT:G	donor_loss	1.0000
16:16344040:CCTA:C	acceptor_loss	1.0000
16:16344041:CTAG:C	acceptor_loss	1.0000
16:16344042:TAGGT:T	acceptor_loss	1.0000
16:16344044:G:A	acceptor_loss	1.0000
16:16344044:GGT:G	acceptor_gain	1.0000
16:16344119:G:GT	donor_gain	1.0000
16:16344140:GGAAG:G	donor_gain	1.0000
16:16344141:GAAGG:G	donor_gain	1.0000
16:16344142:A:T	donor_gain	1.0000
16:16344435:G:GT	donor_gain	1.0000
16:16344448:GAACA:G	donor_gain	1.0000
16:16344453:G:GG	donor_gain	1.0000
16:16347401:A:AG	acceptor_gain	1.0000
16:16347402:G:GA	acceptor_gain	1.0000

AlphaMissense

2400 scored. Top likely-pathogenic:

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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