NIP7

gene
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Also known as CGI-37FLJ10296HSPC031KD93

Summary

NIP7 (nucleolar pre-rRNA processing protein NIP7, HGNC:24328) is a protein-coding gene on chromosome 16q22.1, encoding 60S ribosome subunit biogenesis protein NIP7 homolog (Q9Y221). Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Enables RNA binding activity. Predicted to be involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm.

Source: NCBI Gene 51388 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 36 total
  • Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
  • MANE Select transcript: NM_016101

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24328
Approved symbolNIP7
Namenucleolar pre-rRNA processing protein NIP7
Location16q22.1
Locus typegene with protein product
StatusApproved
AliasesCGI-37, FLJ10296, HSPC031, KD93
Ensembl geneENSG00000132603
Ensembl biotypeprotein_coding
OMIM619204
Entrez51388

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 retained_intron

ENST00000254940, ENST00000254941, ENST00000562131, ENST00000562523, ENST00000563364, ENST00000565034, ENST00000567202, ENST00000569637, ENST00000937746

RefSeq mRNA: 2 — MANE Select: NM_016101 NM_001199434, NM_016101

CCDS: CCDS10877, CCDS56003

Canonical transcript exons

ENST00000254940 — 5 exons

ExonStartEnd
ENSE000009046006934000669340092
ENSE000009046066934118069341320
ENSE000018720456934153369343106
ENSE000019126366933977269339885
ENSE000036689416934019469340332

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 94.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6124 / max 332.3969, expressed in 1813 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
15481417.13301785
1548134.36331551
1548150.100820
1548120.01535

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065594.93gold quality
pharyngeal mucosaUBERON:000035588.40gold quality
esophagus squamous epitheliumUBERON:000692088.34gold quality
oral cavityUBERON:000016787.94gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099187.92gold quality
islet of LangerhansUBERON:000000687.92gold quality
nippleUBERON:000203087.57gold quality
oocyteCL:000002386.95gold quality
gingivaUBERON:000182886.92gold quality
superior surface of tongueUBERON:000737186.53gold quality
rectumUBERON:000105286.52gold quality
epithelium of esophagusUBERON:000197686.42gold quality
esophagus mucosaUBERON:000246986.42gold quality
gingival epitheliumUBERON:000194986.33gold quality
mucosa of transverse colonUBERON:000499186.31gold quality
cauda epididymisUBERON:000436086.28gold quality
mucosa of sigmoid colonUBERON:000499386.19gold quality
adrenal tissueUBERON:001830386.15gold quality
leukocyteCL:000073885.97gold quality
colonic mucosaUBERON:000031785.97gold quality
lymph nodeUBERON:000002985.96gold quality
monocyteCL:000057685.88gold quality
mononuclear cellCL:000084285.75gold quality
squamous epitheliumUBERON:000691485.70gold quality
bone marrowUBERON:000237185.66gold quality
tonsilUBERON:000237285.63gold quality
stromal cell of endometriumCL:000225585.47gold quality
endometriumUBERON:000129585.42gold quality
corpus epididymisUBERON:000435985.24gold quality
penisUBERON:000098985.10gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-3929yes663.08
E-ANND-3yes6.55
E-HCAD-5no2.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting NIP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-186-5P99.9970.833707
HSA-MIR-477599.9875.006394
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

  • KD93 is a novel protein expressed in human hematopoietic stem/progenitor cells (PMID:15522784)
  • SBDS is found in complexes containing the human Nip7 ortholog. (PMID:17643419)
  • Downregulation of NIP7 affects pre-rRNA processing, causing an imbalance of the 40S/60S subunit ratio. (PMID:20798176)
  • The results presented in this work indicate a close functional interaction between NIP7 and FTSJ3 during pre-rRNA processing and show that FTSJ3 participates in ribosome synthesis in human cells. (PMID:22195017)
  • The Cox regression model revealed that only NIP7, RPL10L, and MCM2 exhibited significant correlation with distant recurrence-free survival in liposarcoma in the GSE30929 dataset, and the regression coefficients were -0.676, -0.703, and 0.868, respectively (PMID:30317246)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerionip7ENSDARG00000059075
mus_musculusNip7ENSMUSG00000031917
rattus_norvegicusNip7ENSRNOG00000020391
drosophila_melanogasterCG7006FBGN0039233
caenorhabditis_elegansC43E11.9WBGENE00016607

Paralogs (2): CKS2 (ENSG00000123975), CKS1B (ENSG00000173207)

Protein

Protein identifiers

60S ribosome subunit biogenesis protein NIP7 homologQ9Y221 (reviewed: Q9Y221)

Alternative names: KD93, Nucleolar pre-rRNA processing protein NIP7

All UniProt accessions (4): Q9Y221, J3QLW7, J3QRD6, J3QRR4

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.

Subunit / interactions. Monomer. Interacts with pre-ribosome complex. May bind to RNA. Interacts with NOL8. May interact with SBDS. Interacts with FTSJ3. Interacts with DDX24.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Expressed in hematopoietic stem/progenitor cells.

Similarity. Belongs to the NIP7 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9Y221-11yes
Q9Y221-22

RefSeq proteins (2): NP_001186363, NP_057185* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002478PUADomain
IPR005155UPF0113_PUADomain
IPR015947PUA-like_sfHomologous_superfamily
IPR016686Ribosomal_synth_fac_NIP7Family
IPR036974PUA_sfHomologous_superfamily
IPR040598NIP7_NDomain
IPR055359Nip7_N_eukDomain

Pfam: PF03657, PF17833

UniProt features (30 total): helix 12, strand 9, turn 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

8 structures.

PDBMethodResolution (Å)
1SQWX-RAY DIFFRACTION1.9
8FKVELECTRON MICROSCOPY2.47
1T5YX-RAY DIFFRACTION2.5
8FKWELECTRON MICROSCOPY2.5
8FKXELECTRON MICROSCOPY2.59
8FKYELECTRON MICROSCOPY2.67
8FKTELECTRON MICROSCOPY2.81
8FKUELECTRON MICROSCOPY2.82

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y221-F193.910.87

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

PositionPhenotype
55markedly reduced interaction with ddx24.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-6791226Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 166 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, chr16q22, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_RIBOSOME_ASSEMBLY, TERAMOTO_OPN_TARGETS_CLUSTER_3, GOBP_ORGANELLE_ASSEMBLY, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, GRADE_COLON_AND_RECTAL_CANCER_UP, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME

GO Biological Process (3): ribosome assembly (GO:0042255), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
rRNA processing in the nucleus and cytosol1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
ribosome biogenesis2
ribonucleoprotein complex biogenesis2
nuclear lumen2
membraneless organelle assembly1
nucleic acid binding1
binding1
intracellular membraneless organelle1
cytoplasm1
preribosome1
intracellular membrane-bounded organelle1
intracellular anatomical structure1

Protein interactions and networks

STRING

2630 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NIP7NOL8Q76FK4954
NIP7EXOSC8Q96B26915
NIP7FTSJ3Q8IY81838
NIP7RSL24D1Q9UHA3825
NIP7NOP2P46087820
NIP7RPF2Q9H7B2794
NIP7WDR12Q9GZL7784
NIP7NOP53Q9NZM5771
NIP7EBNA1BP2Q99848757
NIP7NSA2O95478744
NIP7NIFKQ9BYG3739
NIP7PAK1IP1Q9NWT1716
NIP7RRAGAQ7L523709
NIP7RRAGCQ9HB90708
NIP7RRAGDQ9NQL2705

IntAct

130 interactions, top by confidence:

ABTypeScore
CBFBRUNX1psi-mi:“MI:0914”(association)0.870
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
NOP2NIP7psi-mi:“MI:0915”(physical association)0.670
DNAJC8SF3B1psi-mi:“MI:0914”(association)0.640
NPM1MPHOSPH10psi-mi:“MI:0914”(association)0.610
NECAB2NIP7psi-mi:“MI:0915”(physical association)0.560
NIP7CRXpsi-mi:“MI:0915”(physical association)0.560
NIP7LZTS2psi-mi:“MI:0915”(physical association)0.560
CRXNIP7psi-mi:“MI:0915”(physical association)0.560
LZTS2NIP7psi-mi:“MI:0915”(physical association)0.560
NIP7NECAB2psi-mi:“MI:0915”(physical association)0.560
NIP7OPTNpsi-mi:“MI:0915”(physical association)0.560
RPL28MAGEB2psi-mi:“MI:0914”(association)0.560
RPL37AMPHOSPH10psi-mi:“MI:0914”(association)0.530
RPL30RRP8psi-mi:“MI:0914”(association)0.530
MAGEB2POLRMTpsi-mi:“MI:0914”(association)0.530
ZC3HAV1KHNYNpsi-mi:“MI:0914”(association)0.530
MACROH2A2PPM1Gpsi-mi:“MI:0914”(association)0.530
SRPK2RRP9psi-mi:“MI:0914”(association)0.530
MAGEB2GTPBP10psi-mi:“MI:0914”(association)0.530
NHSL3NCK2psi-mi:“MI:0914”(association)0.530
H3C1SMCHD1psi-mi:“MI:2364”(proximity)0.410

BioGRID (223): NIP7 (Two-hybrid), NIP7 (Two-hybrid), NECAB2 (Two-hybrid), LZTS2 (Two-hybrid), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Two-hybrid), CEBPZ (Co-fractionation), DDX24 (Co-fractionation), GLTSCR2 (Co-fractionation), NIP7 (Co-fractionation)

ESM2 similar proteins: A1JU75, A2BK57, A4QND5, A4ZUA5, A6URG2, B0G104, B5Y822, O14228, O26715, O26868, O27544, O28112, O28293, O28826, O29145, O83462, P02962, P0C2V7, P0C8H0, P0C8H2, P0C8H3, P0CAA4, P24154, P50348, P55489, P58828, P80305, Q07739, Q09MI6, Q14FG5, Q3V4V8, Q4T2X8, Q50533, Q56P27, Q58254, Q5PB42, Q5R9J1, Q65143, Q65189, Q6DFH9

Diamond homologs: A4QND5, B0G104, Q08962, Q1MTQ9, Q4T2X8, Q503P2, Q56P27, Q5R9J1, Q6DFH9, Q9CXK8, Q9WV50, Q9Y221

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 137 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Peptide chain elongation1318.3×2e-11
Viral mRNA Translation1318.3×2e-11
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA1318.1×2e-11
Selenocysteine synthesis1317.4×3e-11
Eukaryotic Translation Termination1317.4×3e-11
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)1317.0×3e-11
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA1317.0×3e-11
rRNA modification in the nucleus and cytosol816.6×7e-07

GO biological processes:

GO termPartnersFoldFDR
ribosomal large subunit biogenesis829.1×4e-08
positive regulation of transcription by RNA polymerase I526.6×1e-04
rRNA processing1719.7×8e-15
cytoplasmic translation1319.7×3e-11
ribosomal small subunit biogenesis916.8×4e-07
negative regulation of viral genome replication515.3×2e-03
translation1310.9×4e-08
regulation of alternative mRNA splicing, via spliceosome510.0×8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance26
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

656 predictions. Top by Δscore:

VariantEffectΔscore
16:69339618:G:GTdonor_gain1.0000
16:69339886:G:GGdonor_gain1.0000
16:69340088:GTGAG:Gdonor_gain1.0000
16:69340185:C:Gacceptor_gain1.0000
16:69340190:TTAGT:Tacceptor_loss1.0000
16:69340191:TA:Tacceptor_loss1.0000
16:69340192:A:AGacceptor_gain1.0000
16:69340192:A:Gacceptor_loss1.0000
16:69340192:AGT:Aacceptor_gain1.0000
16:69340193:G:GAacceptor_gain1.0000
16:69340193:GT:Gacceptor_gain1.0000
16:69340193:GTG:Gacceptor_gain1.0000
16:69340193:GTGA:Gacceptor_gain1.0000
16:69340328:CCAAG:Cdonor_loss1.0000
16:69340329:CAAGG:Cdonor_loss1.0000
16:69340330:AAG:Adonor_loss1.0000
16:69340332:GGTT:Gdonor_loss1.0000
16:69341167:A:AGacceptor_gain1.0000
16:69341177:TAGT:Tacceptor_loss1.0000
16:69341178:A:AGacceptor_gain1.0000
16:69341178:AGT:Aacceptor_loss1.0000
16:69341179:G:GTacceptor_gain1.0000
16:69341179:GT:Gacceptor_gain1.0000
16:69341179:GTA:Gacceptor_gain1.0000
16:69341179:GTAT:Gacceptor_gain1.0000
16:69341179:GTATA:Gacceptor_gain1.0000
16:69341319:TGGTG:Tdonor_loss1.0000
16:69341321:G:GCdonor_loss1.0000
16:69341322:TGA:Tdonor_loss1.0000
16:69341323:G:GGdonor_loss1.0000

AlphaMissense

1170 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:69340250:G:AG67E1.000
16:69340262:G:AG71E1.000
16:69341187:T:AV97D1.000
16:69341189:T:AW98R1.000
16:69341189:T:CW98R1.000
16:69341240:A:GK115E1.000
16:69341242:A:CK115N1.000
16:69341242:A:TK115N1.000
16:69341537:T:CF143S1.000
16:69341539:G:TG144W1.000
16:69341540:G:AG144E1.000
16:69341549:C:AA147D1.000
16:69341608:G:CA167P1.000
16:69339840:T:CL4S0.999
16:69339840:T:GL4W0.999
16:69340059:T:CF37S0.999
16:69340062:G:CR38P0.999
16:69340077:G:CR43P0.999
16:69340249:G:AG67R0.999
16:69340249:G:CG67R0.999
16:69340249:G:TG67W0.999
16:69340250:G:TG67V0.999
16:69340261:G:AG71R0.999
16:69340261:G:CG71R0.999
16:69340262:G:TG71V0.999
16:69340286:T:CF79S0.999
16:69340304:C:AA85D0.999
16:69340328:C:AA93D0.999
16:69341185:A:CK96N0.999
16:69341185:A:TK96N0.999

dbSNP variants (sampled 300 via entrez): RS1000102220 (16:69338897 G>A,T), RS1000451372 (16:69338637 C>A,G,T), RS1000788071 (16:69338162 A>T), RS1000840290 (16:69338374 A>G), RS1000952872 (16:69343156 T>C), RS1001995505 (16:69338111 C>T), RS1002114621 (16:69343243 T>C,G), RS1002576812 (16:69340424 A>G,T), RS1002583776 (16:69342922 C>T), RS1003185354 (16:69341930 A>G,T), RS1004303760 (16:69338182 C>A,T), RS1005080818 (16:69342310 G>T), RS1005544636 (16:69342565 G>A), RS1006032107 (16:69339798 C>A,G,T), RS1007074419 (16:69339846 A>C,G)

Disease associations

OMIM: gene MIM:619204 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

StudyTraitp-value
GCST005951_13Body mass index5.000000e-11
GCST007006_16Logical memory (delayed recall) in normal cognition7.000000e-07

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0004874memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects expression, decreases expression, affects cotreatment, increases abundance, increases expression3
cobaltous chloridedecreases expression, decreases reaction2
Air Pollutantsaffects expression, increases abundance, decreases expression2
Valproic Acidaffects expression, increases expression2
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression1
sodium arsenatedecreases expression1
trichostatin Aaffects expression1
arseniteaffects binding, increases reaction1
zinc chloridedecreases reaction, decreases expression1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
K 7174decreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001increases expression1
dorsomorphinaffects cotreatment, increases expression1
Resveratrolaffects cotreatment, increases expression1
Temozolomideincreases expression1
Vorinostataffects cotreatment, increases expression1
Arsenicaffects cotreatment, increases abundance, increases expression1
Atrazinedecreases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Estradiolincreases expression1
Ethyl Methanesulfonatedecreases expression1
Hydrogen Peroxideaffects expression1
Ivermectindecreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Methyl Methanesulfonatedecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.