RPL7L1

gene
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Also known as dJ475N16.4

Summary

RPL7L1 (ribosomal protein L7 like 1, HGNC:21370) is a protein-coding gene on chromosome 6p21.1, encoding Ribosomal protein uL30-like (Q6DKI1). It is a common-essential gene (DepMap: required in 99.5% of cancer cell lines).

Enables RNA binding activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Located in mitochondrion.

Source: NCBI Gene 285855 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 51 total
  • Cancer dependency (DepMap): dependent in 99.5% of screened cell lines (common-essential)
  • MANE Select transcript: NM_001366481

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21370
Approved symbolRPL7L1
Nameribosomal protein L7 like 1
Location6p21.1
Locus typegene with protein product
StatusApproved
AliasesdJ475N16.4
Ensembl geneENSG00000146223
Ensembl biotypeprotein_coding
OMIM617417
Entrez285855

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000304734, ENST00000397415, ENST00000459829, ENST00000462348, ENST00000483998, ENST00000487619, ENST00000492836, ENST00000493763, ENST00000497417, ENST00000602561, ENST00000934499, ENST00000934500, ENST00000953717

RefSeq mRNA: 2 — MANE Select: NM_001366481 NM_001366481, NM_198486

CCDS: CCDS4873

Canonical transcript exons

ENST00000493763 — 6 exons

ExonStartEnd
ENSE000018339554287961642879951
ENSE000019345914288625642889900
ENSE000034647274288345142883614
ENSE000034926464288461342884750
ENSE000035261264288086142880966
ENSE000036292914288597442886083

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 98.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1835 / max 87.8376, expressed in 1593 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
678252.58841350
678270.9643560
678260.6309342

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
upper arm skinUBERON:000426398.25gold quality
kidney epitheliumUBERON:000481998.05gold quality
bronchial epithelial cellCL:000232897.53gold quality
skin of hipUBERON:000155497.36gold quality
oral cavityUBERON:000016797.34gold quality
bronchusUBERON:000218597.31gold quality
mammalian vulvaUBERON:000099797.14gold quality
mucosa of sigmoid colonUBERON:000499397.08gold quality
buccal mucosa cellCL:000233697.06gold quality
tibialis anteriorUBERON:000138596.99gold quality
ileal mucosaUBERON:000033196.91gold quality
upper leg skinUBERON:000426296.89gold quality
islet of LangerhansUBERON:000000696.86gold quality
epithelial cell of pancreasCL:000008396.77gold quality
seminal vesicleUBERON:000099896.68gold quality
postcentral gyrusUBERON:000258196.62gold quality
Brodmann (1909) area 46UBERON:000648396.61gold quality
cartilage tissueUBERON:000241896.58gold quality
penisUBERON:000098996.54gold quality
caput epididymisUBERON:000435896.50gold quality
corpus epididymisUBERON:000435996.46gold quality
entorhinal cortexUBERON:000272896.36gold quality
cortical plateUBERON:000534396.29gold quality
nasal cavity epitheliumUBERON:000538496.29gold quality
left ventricle myocardiumUBERON:000656696.21gold quality
colonic mucosaUBERON:000031796.17gold quality
adult organismUBERON:000702396.14gold quality
cerebellar vermisUBERON:000472096.10gold quality
parietal lobeUBERON:000187296.08gold quality
gingivaUBERON:000182896.07gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-MTAB-7381no375.76
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting RPL7L1, 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-4682100.0068.891258
HSA-MIR-4425100.0067.591049
HSA-MIR-428299.9975.366408
HSA-MIR-453199.9969.703181
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-314899.9775.066478
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-55999.9572.283609
HSA-MIR-144-3P99.9473.982698
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-552-5P99.9368.561583
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877
HSA-MIR-129799.9173.413162
HSA-MIR-627-3P99.9071.423316
HSA-MIR-129-5P99.8870.263273
HSA-MIR-427199.8868.322244
HSA-MIR-3140-3P99.8868.472069
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-442099.8270.081624
HSA-MIR-6875-3P99.8270.262983
HSA-MIR-430799.8270.453374
HSA-MIR-181B-2-3P99.8170.061646
HSA-MIR-181B-3P99.8170.061646
HSA-MIR-204-5P99.7971.622439
HSA-MIR-211-5P99.7971.652440
HSA-MIR-26A-5P99.7873.522303

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.5% of screened cell lines, common-essential.

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriorpl7l1ENSDARG00000042864
mus_musculusRpl7l1ENSMUSG00000063888
rattus_norvegicusRpl7l1ENSRNOG00000016269
drosophila_melanogasterRpL7FBGN0005593
caenorhabditis_elegansrpl-7WBGENE00004418

Paralogs (1): RPL7 (ENSG00000147604)

Protein

Protein identifiers

Ribosomal protein uL30-likeQ6DKI1 (reviewed: Q6DKI1)

Alternative names: 60S ribosomal protein L7-like 1, Large ribosomal subunit protein uL30-like 1

All UniProt accessions (3): Q6DKI1, A0A1W2PQ76, R4GMU7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the universal ribosomal protein uL30 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6DKI1-11yes
Q6DKI1-22

RefSeq proteins (2): NP_001353410, NP_940888 (=MANE)

Domains & families (InterPro)

IDNameType
IPR005998Ribosomal_uL30_eukFamily
IPR012988Ribosomal_uL30_N_eukDomain
IPR016082Ribosomal_uL30_ferredoxin-likeDomain
IPR018038Ribosomal_uL30_CSConserved_site
IPR035808Ribosomal_uL30_euk_arcDomain
IPR036919Ribo_uL30_ferredoxin-like_sfHomologous_superfamily
IPR039699Ribosomal_uL30Family

Pfam: PF00327, PF08079

UniProt features (5 total): sequence conflict 2, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

25 structures.

PDBMethodResolution (Å)
8FKVELECTRON MICROSCOPY2.47
8FLEELECTRON MICROSCOPY2.48
8FKWELECTRON MICROSCOPY2.5
8FL3ELECTRON MICROSCOPY2.53
8FL7ELECTRON MICROSCOPY2.55
8FLBELECTRON MICROSCOPY2.55
8FLDELECTRON MICROSCOPY2.58
8FKXELECTRON MICROSCOPY2.59
8FL6ELECTRON MICROSCOPY2.62
8FLAELECTRON MICROSCOPY2.63
8FKYELECTRON MICROSCOPY2.67
8FL2ELECTRON MICROSCOPY2.67
8FKQELECTRON MICROSCOPY2.76
8FKTELECTRON MICROSCOPY2.81
8FKUELECTRON MICROSCOPY2.82
8FKPELECTRON MICROSCOPY2.85
8FKSELECTRON MICROSCOPY2.88
8FKRELECTRON MICROSCOPY2.89
8FL4ELECTRON MICROSCOPY2.89
8INFELECTRON MICROSCOPY3
8FKZELECTRON MICROSCOPY3.04
8INEELECTRON MICROSCOPY3.2
8IPYELECTRON MICROSCOPY3.2
8IR3ELECTRON MICROSCOPY3.5
8IPXELECTRON MICROSCOPY4.3

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6DKI1-F187.510.70

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 (1): 63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 163 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, TGCGCANK_UNKNOWN, GCM_GSPT1, GOBP_BLASTOCYST_FORMATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_MATURATION_OF_LSU_RRNA, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_BLASTOCYST_DEVELOPMENT, GCM_NUMA1, GCM_NF2, GOBP_EMBRYO_DEVELOPMENT, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, GCM_RBM8A

GO Biological Process (2): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), blastocyst formation (GO:0001825)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (5): nucleolus (GO:0005730), mitochondrion (GO:0005739), cytosolic large ribosomal subunit (GO:0022625), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
intracellular membraneless organelle2
maturation of LSU-rRNA1
blastocyst development1
anatomical structure formation involved in morphogenesis1
nucleic acid binding1
structural molecule activity1
ribosome1
binding1
nuclear lumen1
cytoplasm1
intracellular membrane-bounded organelle1
large ribosomal subunit1
cytosolic ribosome1
protein-containing complex1

Protein interactions and networks

STRING

3691 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RPL7L1SURF6O75683657
RPL7L1RPL19P14118581
RPL7L1TIA1P31483480
RPL7L1AP3S1Q92572469
RPL7L1MRPL15Q9P015442
RPL7L1GRWD1Q9BQ67437
RPL7L1GOSR2O14653431
RPL7L1CFBP00751426
RPL7L1RPL39P02404425
RPL7L1IGFBP7Q16270421
RPL7L1RPL23P23131417
RPL7L1APOBP04114408
RPL7L1CAPZA1P52907406
RPL7L1RSL24D1Q9UHA3403
RPL7L1RRP7AQ9Y3A4399

IntAct

144 interactions, top by confidence:

ABTypeScore
WDR12PES1psi-mi:“MI:0914”(association)0.850
PES1BOP1psi-mi:“MI:0914”(association)0.810
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
PTK2TGFB1I1psi-mi:“MI:0914”(association)0.680
RPL7L1RPL7Apsi-mi:“MI:0915”(physical association)0.670
LIN28AIGF2BP3psi-mi:“MI:0914”(association)0.640
RPL7ANOP56psi-mi:“MI:0914”(association)0.640
CCNDBP1RPL7L1psi-mi:“MI:0915”(physical association)0.560
RPL28MAGEB2psi-mi:“MI:0914”(association)0.560
MAGEA4MAGEB16psi-mi:“MI:0914”(association)0.530
MAGEB10GTPBP10psi-mi:“MI:0914”(association)0.530
RBM34NVLpsi-mi:“MI:0914”(association)0.530
PES1AP3B1psi-mi:“MI:0914”(association)0.530
WDR55PES1psi-mi:“MI:0914”(association)0.530
RPL37AMPHOSPH10psi-mi:“MI:0914”(association)0.530
MACROH2A2PPM1Gpsi-mi:“MI:0914”(association)0.530
PRR11NVLpsi-mi:“MI:0914”(association)0.530
RPL30RRP8psi-mi:“MI:0914”(association)0.530
PUM3RRP8psi-mi:“MI:0914”(association)0.530
NNOP56psi-mi:“MI:0914”(association)0.530
NRBM47psi-mi:“MI:0914”(association)0.530
KRR1MPHOSPH10psi-mi:“MI:0914”(association)0.530
ABT1ZNF316psi-mi:“MI:0914”(association)0.530
RPL7L1ZBTB24psi-mi:“MI:0914”(association)0.530
ZBTB24CBX6psi-mi:“MI:0914”(association)0.530

BioGRID (267): RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PDL6, A0A1D8PK43, A0BD73, A0CEY2, A5GFQ0, A9A597, O01802, O42848, O42991, O43004, O60143, P05426, P05737, P0CX49, P0CX50, P0DJ13, P0DJ15, P0DJ17, P11874, P14148, P17937, P18124, P25457, P26784, P26785, P32100, P32101, P60039, P60040, Q12213, Q12ZT0, Q27389, Q4DZP2, Q4R506, Q58DT1, Q5AB87, Q5R9R4, Q5RAH8, Q5ZJ56, Q6BIF5

Diamond homologs: A0A1D8PDL6, A0BD73, A0CEY2, A5GFQ0, G1SV32, O01802, O60143, P05426, P05737, P0DJ13, P11874, P14148, P17937, P18124, P25457, P32100, P32101, P32102, P40693, P60039, P60040, Q12213, Q4R506, Q58DT1, Q5R9R4, Q5RAH8, Q5ZJ56, Q6BIF5, Q6BTA4, Q6C603, Q6DKI1, Q6FS36, Q6FSN6, Q755A7, Q75ET5, Q7SBD5, Q8SS93, Q9D8M4, Q9HH78, Q9LHP1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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 elongation1825.4×8e-19
Viral mRNA Translation1825.4×8e-19
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA1825.1×8e-19
Selenocysteine synthesis1824.0×1e-18
Eukaryotic Translation Termination1824.0×1e-18
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)1823.6×1e-18
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA1823.6×1e-18
Formation of a pool of free 40S subunits1822.4×2e-18

GO biological processes:

GO termPartnersFoldFDR
ribosomal large subunit biogenesis826.9×7e-08
cytoplasmic translation1825.2×8e-18
ribosomal small subunit biogenesis1119.0×2e-09
rRNA processing1415.0×1e-10
translation1914.8×1e-14
negative regulation of translation68.9×4e-03
regulation of cell cycle95.1×5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance40
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1103 predictions. Top by Δscore:

VariantEffectΔscore
6:42883446:TGTA:Tacceptor_loss1.0000
6:42883447:GTAGC:Gacceptor_loss1.0000
6:42883448:TA:Tacceptor_loss1.0000
6:42883449:A:AGacceptor_gain1.0000
6:42883449:A:Cacceptor_loss1.0000
6:42883450:G:GTacceptor_gain1.0000
6:42883450:GC:Gacceptor_gain1.0000
6:42883450:GCA:Gacceptor_gain1.0000
6:42883450:GCAGA:Gacceptor_gain1.0000
6:42883610:GAAAG:Gdonor_gain1.0000
6:42883615:G:GAdonor_loss1.0000
6:42883615:G:GGdonor_gain1.0000
6:42883616:T:Gdonor_loss1.0000
6:42884607:TTTCA:Tacceptor_loss1.0000
6:42884608:TTCAG:Tacceptor_loss1.0000
6:42884609:TCAGG:Tacceptor_loss1.0000
6:42884610:CAGGA:Cacceptor_loss1.0000
6:42884611:A:ACacceptor_loss1.0000
6:42884611:AG:Aacceptor_gain1.0000
6:42884612:G:GTacceptor_loss1.0000
6:42884612:GG:Gacceptor_gain1.0000
6:42884746:TGGGG:Tdonor_gain1.0000
6:42884747:GGGG:Gdonor_gain1.0000
6:42884747:GGGGG:Gdonor_gain1.0000
6:42884748:GGG:Gdonor_gain1.0000
6:42884748:GGGG:Gdonor_gain1.0000
6:42884749:GG:Gdonor_gain1.0000
6:42884749:GGG:Gdonor_gain1.0000
6:42884750:GG:Gdonor_gain1.0000
6:42885971:T:Gacceptor_gain1.0000

AlphaMissense

1664 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:42886003:T:CL160P0.997
6:42886013:A:CK163N0.997
6:42886013:A:TK163N0.997
6:42886286:T:CL197P0.997
6:42880896:T:CL26P0.996
6:42880906:G:CR29S0.996
6:42880906:G:TR29S0.996
6:42880928:G:CA37P0.996
6:42884749:G:AG150R0.996
6:42884749:G:CG150R0.996
6:42884750:G:AG150E0.996
6:42885994:T:AV157D0.996
6:42880900:A:CK27N0.995
6:42880900:A:TK27N0.995
6:42880937:G:CA40P0.995
6:42884746:T:AW149R0.995
6:42884746:T:CW149R0.995
6:42885997:G:CR158P0.995
6:42886012:A:TK163I0.995
6:42886015:G:CR164P0.995
6:42886018:G:AG165E0.995
6:42886061:T:AN179K0.995
6:42886061:T:GN179K0.995
6:42884741:T:AV147E0.994
6:42886014:C:AR164S0.994
6:42886273:T:CC193R0.994
6:42886283:A:CD196A0.994
6:42880927:A:CK36N0.993
6:42880927:A:TK36N0.993
6:42885979:C:AP152Q0.993

dbSNP variants (sampled 300 via entrez): RS1000375280 (6:42886954 A>G), RS1000572564 (6:42882413 G>A), RS1000639245 (6:42881319 G>A,C), RS1000677699 (6:42888457 T>A), RS1001010086 (6:42879502 C>T), RS1001229813 (6:42879770 A>T), RS1001249048 (6:42880221 C>T), RS1001309879 (6:42885726 G>T), RS1001347714 (6:42885756 C>T), RS1001378861 (6:42885484 A>G), RS1001575854 (6:42880367 C>T), RS1001656053 (6:42885503 C>G,T), RS1003140580 (6:42885104 T>C,G), RS1003223887 (6:42889812 C>T), RS1003363609 (6:42888994 A>G)

Disease associations

OMIM: gene MIM:617417 | 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
GCST002449_4Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)2.000000e-06
GCST007876_88Estimated glomerular filtration rate3.000000e-28

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005680omega-6 polyunsaturated fatty acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Air Pollutantsdecreases expression, affects expression, increases abundance3
Particulate Matterdecreases expression, increases abundance, affects cotreatment2
aristolochic acid Iincreases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
deoxynivalenolincreases expression1
trichostatin Aaffects expression1
sodium arsenitedecreases expression1
di-n-butylphosphoric acidaffects expression1
chloropicrinincreases expression1
ICG 001increases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Resveratrolaffects cotreatment, increases expression1
Benzo(a)pyreneincreases methylation1
Cadmiumincreases abundance, increases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Diethylhexyl Phthalateincreases expression1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Hydrogen Peroxideaffects expression1
Ozoneaffects expression, increases abundance1
Plant Extractsaffects cotreatment, increases expression1
Polycyclic Aromatic Hydrocarbonsincreases abundance, affects cotreatment, decreases expression1
Ribonucleotidesaffects binding1
Rotenoneincreases expression1
Smokedecreases expression, increases abundance1
Thiramdecreases expression1
Tretinoindecreases expression1
Aflatoxin B1affects cotreatment, decreases expression1
Asbestos, Crocidolitedecreases expression1
Antirheumatic Agentsdecreases 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.