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PRAMEF5

gene
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Also known as PRAMEF5L

Summary

PRAMEF5 (PRAME family member 5, HGNC:27995) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 5 (Q5TYX0).

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm.

Source: NCBI Gene 343068 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 42 total
  • MANE Select transcript: NM_001013407

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:27995
Approved symbolPRAMEF5
NamePRAME family member 5
Location1p36.21
Locus typegene with protein product
StatusApproved
AliasesPRAMEF5L
Ensembl geneENSG00000270601
Ensembl biotypeprotein_coding
Entrez343068

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000622421

RefSeq mRNA: 1 — MANE Select: NM_001013407 NM_001013407

CCDS: CCDS72708

Canonical transcript exons

ENST00000618079 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 38.79.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548838.79gold quality
colonic epitheliumUBERON:000039737.20gold quality
skeletal muscle tissueUBERON:000113436.91gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
hindlimb stylopod muscleUBERON:000425235.58gold quality
ganglionic eminenceUBERON:000402335.49gold quality
muscle tissueUBERON:000238533.65gold quality
bone marrowUBERON:000237131.74gold quality
stromal cell of endometriumCL:000225529.87gold quality
prefrontal cortexUBERON:000045129.20gold quality
duodenumUBERON:000211428.14gold quality
monocyteCL:000057627.75gold quality
leukocyteCL:000073827.73gold quality
lymph nodeUBERON:000002927.57gold quality
placentaUBERON:000198727.49gold quality
tonsilUBERON:000237227.05gold quality
islet of LangerhansUBERON:000000626.91gold quality
vermiform appendixUBERON:000115426.42gold quality
gall bladderUBERON:000211025.98gold quality
muscle of legUBERON:000138325.96gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality
pancreasUBERON:000126425.68gold quality
cortex of kidneyUBERON:000122524.91gold quality
gastrocnemiusUBERON:000138824.85gold quality
calcaneal tendonUBERON:000370124.77gold quality
primary visual cortexUBERON:000243624.61gold quality
frontal cortexUBERON:000187024.27gold quality
superior frontal gyrusUBERON:000266124.08gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting PRAMEF5, 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-3156-3P99.7666.72939
HSA-MIR-4762-3P99.4369.722363
HSA-MIR-329-5P99.2768.111597
HSA-MIR-6737-3P98.9568.561577
HSA-MIR-7157-3P98.9568.701582
HSA-MIR-6889-3P98.8467.351198
HSA-MIR-5008-3P98.7367.501433
HSA-MIR-19898.7067.32920
HSA-MIR-6529-3P98.6866.761020
HSA-MIR-210-5P98.5764.37832
HSA-MIR-126598.3666.46598
HSA-MIR-430597.9468.63533
HSA-MIR-446997.9365.811319
HSA-MIR-4700-3P97.7468.641014
HSA-MIR-6818-5P97.5067.101167
HSA-MIR-7106-3P97.3365.33644
HSA-MIR-6777-3P95.3564.30699

Cross-species orthologs

125 orthologs

OrganismSymbolGene ID
danio_reriosi:ch73-174h16.4ENSDARG00000036493
mus_musculusPramel6ENSMUSG00000025838
mus_musculusPramel7ENSMUSG00000025839
mus_musculusPramel13ENSMUSG00000028591
mus_musculusPramel27ENSMUSG00000029451
mus_musculusPramel17ENSMUSG00000035201
mus_musculusPramel5ENSMUSG00000036749
mus_musculusPramel18ENSMUSG00000037028
mus_musculusPramel32ENSMUSG00000038330
mus_musculusPramel1ENSMUSG00000041805
mus_musculusC130073F10RikENSMUSG00000046133
mus_musculusPramel29ENSMUSG00000046262
mus_musculusPramel24ENSMUSG00000046435
mus_musculusPramel12ENSMUSG00000046862
mus_musculusOog4ENSMUSG00000047799
mus_musculusOog3ENSMUSG00000050810
mus_musculusPramel26ENSMUSG00000059218
mus_musculusPramel51ENSMUSG00000066027
mus_musculusOog2ENSMUSG00000066030
mus_musculusPramel25ENSMUSG00000066031
mus_musculusPramel21ENSMUSG00000066688
mus_musculusGm13040ENSMUSG00000070616
mus_musculusPramel23ENSMUSG00000070617
mus_musculusPramel20ENSMUSG00000070618
mus_musculusPramel31ENSMUSG00000070619
mus_musculusPramel48ENSMUSG00000070677
mus_musculusPramel34ENSMUSG00000070686
mus_musculusPramel19ENSMUSG00000070890
mus_musculusPramel55ENSMUSG00000072813
mus_musculusPramel54ENSMUSG00000072814
mus_musculusPramel53ENSMUSG00000072821
mus_musculusPramel37ENSMUSG00000072822
mus_musculusPramel15ENSMUSG00000073721
mus_musculusPramel61ENSMUSG00000073723
mus_musculusPramel4ENSMUSG00000073724
mus_musculusPramel41ENSMUSG00000074011
ENSMUSG00000074720
mus_musculusPramel30ENSMUSG00000078508
mus_musculusPramel14ENSMUSG00000078509
mus_musculusPramel28ENSMUSG00000078510
mus_musculusPramel16ENSMUSG00000078511
mus_musculusPramel11ENSMUSG00000078512
mus_musculusPramel22ENSMUSG00000078513
mus_musculusPrame62ENSMUSG00000078625
mus_musculusGm12790ENSMUSG00000078626
mus_musculusPramel57ENSMUSG00000079423
mus_musculusPramel47ENSMUSG00000079424
ENSMUSG00000091585
mus_musculusPramel45ENSMUSG00000092166
mus_musculusPramel49ENSMUSG00000094043
ENSMUSG00000094172
mus_musculusPramel44ENSMUSG00000094195
ENSMUSG00000094303
ENSMUSG00000094337
ENSMUSG00000094383
ENSMUSG00000094474
ENSMUSG00000094722
ENSMUSG00000094741
ENSMUSG00000094791
ENSMUSG00000094836
ENSMUSG00000094855
ENSMUSG00000094887
mus_musculusPramel42ENSMUSG00000095074
mus_musculusGm13043ENSMUSG00000095409
ENSMUSG00000095475
mus_musculusPramel43ENSMUSG00000095503
ENSMUSG00000095505
ENSMUSG00000095523
ENSMUSG00000095570
ENSMUSG00000095666
mus_musculusPramel40ENSMUSG00000095718
ENSMUSG00000095763
mus_musculusPramel56ENSMUSG00000095954
mus_musculusPramel60ENSMUSG00000095996
mus_musculusPramel33ENSMUSG00000096044
mus_musculusPramel46ENSMUSG00000096066
mus_musculusPramel50ENSMUSG00000096139
mus_musculusGm13057ENSMUSG00000096154
mus_musculusPramel36ENSMUSG00000096230
ENSMUSG00000096236
mus_musculusPramel38ENSMUSG00000096259
mus_musculusGm2042ENSMUSG00000096276
ENSMUSG00000096550
mus_musculusOog1ENSMUSG00000096576
ENSMUSG00000096680
ENSMUSG00000096728
ENSMUSG00000096756
mus_musculusPramel35ENSMUSG00000107392
rattus_norvegicusPramel6ENSRNOG00000021920
rattus_norvegicusPramel7ENSRNOG00000021949
rattus_norvegicusPramef25ENSRNOG00000027000
rattus_norvegicusOog3ENSRNOG00000027142
rattus_norvegicusPramef8ENSRNOG00000027278
rattus_norvegicusPramef27ENSRNOG00000027328
rattus_norvegicusOog1ENSRNOG00000033000
rattus_norvegicusPramef12ENSRNOG00000037035
rattus_norvegicusOog3l1ENSRNOG00000037039
rattus_norvegicusPramef17ENSRNOG00000042820
rattus_norvegicusPramel36ENSRNOG00000043130
rattus_norvegicusOog3l2ENSRNOG00000045614
rattus_norvegicusPramel36l1ENSRNOG00000046931
rattus_norvegicusLOC120103107ENSRNOG00000047341
rattus_norvegicusPramef20ENSRNOG00000053942
rattus_norvegicusLOC134481896ENSRNOG00000062749
rattus_norvegicusPramel53l1ENSRNOG00000063444
rattus_norvegicusLOC120096511ENSRNOG00000063633
rattus_norvegicusPramel36l1ENSRNOG00000064574
rattus_norvegicusPramef20l1ENSRNOG00000065680
rattus_norvegicusENSRNOG00000065869
rattus_norvegicusLOC134481897ENSRNOG00000067003
rattus_norvegicusPramef8l2ENSRNOG00000067042
rattus_norvegicusPramel34ENSRNOG00000067111
rattus_norvegicusPramef5ENSRNOG00000067307
rattus_norvegicusPramef20-ps1ENSRNOG00000067899
rattus_norvegicusENSRNOG00000071611
rattus_norvegicusENSRNOG00000072535
rattus_norvegicusENSRNOG00000073402
rattus_norvegicusENSRNOG00000073978
rattus_norvegicusENSRNOG00000075698
rattus_norvegicusENSRNOG00000077508
rattus_norvegicusENSRNOG00000083237
rattus_norvegicusENSRNOG00000084642
rattus_norvegicusENSRNOG00000086814
rattus_norvegicusENSRNOG00000088869
rattus_norvegicusENSRNOG00000089019

Paralogs (24): PRAMEF1 (ENSG00000116721), PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), LRRC14 (ENSG00000160959), PRAMEF8 (ENSG00000182330), LRRC14B (ENSG00000185028), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF15 (ENSG00000204501), PRAMEF9 (ENSG00000204505), PRAMEF7 (ENSG00000204510), PRAMEF25 (ENSG00000229571), PRAMEF6 (ENSG00000232423), PRAMEF33 (ENSG00000237700), PRAMEF11 (ENSG00000239810), PRAMEF4 (ENSG00000243073), PRAMEF27 (ENSG00000274764), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)

Protein

Protein identifiers

PRAME family member 5 — Q5TYX0 (reviewed: Q5TYX0)

All UniProt accessions (1): Q5TYX0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRAME family.

RefSeq proteins (1): NP_001013425* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026271PRAMEFamily
IPR032675LRR_dom_sfHomologous_superfamily
IPR050694LRRC14/PRAMEFamily

UniProt features (17 total): repeat 9, sequence conflict 7, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5TYX0-F184.990.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 30 (showing top): GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_UBIQUITIN_LIGASE_COMPLEX, chr1p36, GOBP_POSITIVE_REGULATION_OF_CELL_POPULATION_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOCC_CUL2_RING_UBIQUITIN_LIGASE_COMPLEX, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, KRAS.DF.V1_DN, MIR6818_5P

GO Biological Process (5): positive regulation of cell population proliferation (GO:0008284), negative regulation of apoptotic process (GO:0043066), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of cell differentiation (GO:0045596), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (1): ubiquitin-like ligase-substrate adaptor activity (GO:1990756)

GO Cellular Component (2): cytoplasm (GO:0005737), Cul2-RING ubiquitin ligase complex (GO:0031462)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell population proliferation1
regulation of cell population proliferation1
positive regulation of cellular process1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
ubiquitin-dependent protein catabolic process1
proteasomal protein catabolic process1
cell differentiation1
regulation of cell differentiation1
negative regulation of cellular process1
negative regulation of developmental process1
DNA-templated transcription1
regulation of DNA-templated transcription1
negative regulation of RNA biosynthetic process1
enzyme-substrate adaptor activity1
intracellular anatomical structure1
cellular anatomical structure1
cullin-RING ubiquitin ligase complex1

Protein interactions and networks

STRING

2109 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PRAMEF5MBD3L1Q8WWY6474
PRAMEF5LEUTXA8MZ59447
PRAMEF5DUXAA6NLW8432
PRAMEF5LCE3BQ5TA77419
PRAMEF5MBD3L2Q8NHZ7417
PRAMEF5LCE3CQ5T5A8400
PRAMEF5ZNF534Q76KX8359
PRAMEF5MBD3L3A6NE82359
PRAMEF5ZSCAN4Q8NAM6328
PRAMEF5KLF17Q5JT82322
PRAMEF5LCE5AQ5TCM9300
PRAMEF5KIF4BQ2VIQ3259
PRAMEF5TBX20Q9UMR3258
PRAMEF5DPPA3Q6W0C5253
PRAMEF5LCE1DQ5T752250

IntAct

3 interactions, top by confidence:

ABTypeScore
PRAMEF5PRAMEF4psi-mi:“MI:0914”(association)0.530

ESM2 similar proteins: A0A0G2JMD5, A1Z198, A3QJZ6, A3QJZ7, A6NGN4, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q0GKD5, Q288C4, Q2LKU9, Q2LKV5, Q2LKW6, Q3TKR3, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q66X05, Q66X19

Diamond homologs: A0A0G2JMD5, A3QJZ6, A3QJZ7, A6NGN4, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q7TPX8, Q810Y8, Q99MW3, Q3UJB3, A5PJJ5, Q15048, Q569B5, A6NHZ5, Q1L8H0, Q640Z9, Q8VC16, P59047, Q7TSF4, Q8NAA5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance30
Likely benign12
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

607 predictions. Top by Δscore:

VariantEffectΔscore
1:13260219:C:Aacceptor_loss1.0000
1:13260219:C:CAacceptor_loss1.0000
1:13260219:C:CCacceptor_gain1.0000
1:13260220:A:AGacceptor_gain1.0000
1:13260220:AG:Aacceptor_gain1.0000
1:13260220:AGGAG:Aacceptor_gain1.0000
1:13260220:CC:Cacceptor_gain1.0000
1:13260220:CCTGT:Cacceptor_loss1.0000
1:13260221:G:GAacceptor_gain1.0000
1:13260221:G:Tacceptor_loss1.0000
1:13260221:GG:Gacceptor_gain1.0000
1:13260221:GGA:Gacceptor_gain1.0000
1:13260221:GGAGG:Gacceptor_gain1.0000
1:13260221:TC:Tacceptor_gain1.0000
1:13260221:TCC:Tacceptor_loss1.0000
1:13260222:CTC:Cacceptor_gain1.0000
1:13260223:CCTCC:Cacceptor_gain1.0000
1:13260801:CAG:Cdonor_loss1.0000
1:13260802:AG:Adonor_loss1.0000
1:13260803:GGTG:Gdonor_loss1.0000
1:13260804:G:GAdonor_loss1.0000
1:13260805:T:Gdonor_loss1.0000
1:13262548:A:AGacceptor_gain1.0000
1:13262549:G:GGacceptor_gain1.0000
1:13262549:GCT:Gacceptor_gain1.0000
1:13254276:G:Adonor_loss0.9900
1:13254276:G:GGdonor_gain0.9900
1:13259241:T:TAacceptor_gain0.9900
1:13259553:CAGG:Cdonor_loss0.9900
1:13259554:AG:Adonor_loss0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002859710 (1:13253365 CGAA>C), RS1006224270 (1:13262017 C>T), RS1009862044 (1:13253257 C>T), RS1016896144 (1:13261764 G>A), RS1017293914 (1:13253126 G>A), RS1020744630 (1:13253205 CT>C), RS1026369410 (1:13262134 T>A), RS1032406707 (1:13255987 G>A,C), RS1040605435 (1:13259793 G>A,T), RS1043363583 (1:13259866 A>G), RS1043977714 (1:13263285 G>A,C), RS1044472379 (1:13253428 A>C,G), RS1047933761 (1:13253469 T>C), RS1052168972 (1:13263859 C>G,T), RS111288270 (1:13255108 T>A)

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

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
butyraldehydeincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Cadmiumdecreases expression1
Estradiolaffects expression1
Plant Extractsaffects cotreatment, decreases expression1
Tretinoinincreases expression1
Valproic Acidincreases methylation1

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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot