PRAMEF5 (PRAME family member 5) - Rat Genome Database

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Gene: PRAMEF5 (PRAME family member 5) Homo sapiens
Analyze
No known orthologs.
Symbol: PRAMEF5
Name: PRAME family member 5
RGD ID: 1603849
HGNC Page HGNC:27995
Description: 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.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PRAME family member 23; PRAMEF23; PRAMEF5L
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,254,198 - 13,263,435 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,254,198 - 13,263,435 (+)EnsemblGRCh38hg38GRCh38
GRCh37113,108,514 - 13,117,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,232,406 - 13,241,644 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map1p36.21NCBI
HuRef112,037,906 - 12,044,726 (-)NCBIHuRef
CHM1_1113,379,440 - 13,388,677 (+)NCBICHM1_1
T2T-CHM13v2.0112,695,431 - 12,704,668 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PRAMEF5Humanchromosome 1p36 deletion syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 1p36 deletion syndromeClinVar 


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PRAMEF5Human17beta-estradiol affects expressionEXP 6480464Estradiol affects the expression of PRAMEF5 mRNACTDPMID:22574217
PRAMEF5Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of PRAMEF5 mRNACTDPMID:33167477
PRAMEF5Humanbutanal increases expressionEXP 6480464butyraldehyde results in increased expression of PRAMEF5 mRNACTDPMID:26079696
PRAMEF5Humancadmium atom decreases expressionEXP 6480464Cadmium results in decreased expression of PRAMEF5 mRNACTDPMID:24376830
PRAMEF5Humanresveratrol multiple interactionsEXP 6480464[Plant Extracts co-treated with Resveratrol] results in decreased expression of PRAMEF5 mRNACTDPMID:23557933
PRAMEF5Humanvalproic acid increases methylationEXP 6480464Valproic Acid results in increased methylation of PRAMEF5 geneCTDPMID:29154799


Biological Process

  

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PRAMEF5HumanCul2-RING ubiquitin ligase complex part_ofIBAPANTHER:PTN000368795 more ...150520179 GO_CentralGO_REF:0000033
PRAMEF5Humancytoplasm is_active_inIBAMGI:1890541 more ...150520179 GO_CentralGO_REF:0000033

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PRAMEF5Humanubiquitin-like ligase-substrate adaptor activity enablesIBAPANTHER:PTN000368795 more ...150520179 GO_CentralGO_REF:0000033


#
Reference Title
Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:12477932   PMID:16710414   PMID:21873635   PMID:26186194   PMID:28514442   PMID:33961781   PMID:35256949  



.

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Variants in PRAMEF5
24 total Variants

1 to 10 of 64 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1 copy number loss See cases [RCV000137720] Chr1:12724785..16034788 [GRCh38]
Chr1:12784752..16361283 [GRCh37]
Chr1:12707339..16233870 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3 copy number gain See cases [RCV000138029] Chr1:12627415..13993978 [GRCh38]
Chr1:12687421..14320473 [GRCh37]
Chr1:12610008..14193060 [NCBI36]
Chr1:1p36.21
likely pathogenic
1 to 10 of 64 rows

Predicted Target Of
Summary Value
Count of predictions:145
Count of miRNA genes:132
Interacting mature miRNAs:133
Transcripts:ENST00000376168, ENST00000605221
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
6 28 29 31 42 20 21 6 26 4 17 86 77 34 5 176 15 2



Ensembl Acc Id: ENST00000622421   ⟹   ENSP00000480122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,254,198 - 13,263,435 (+)Ensembl
RefSeq Acc Id: NM_001013407   ⟹   NP_001013425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,254,198 - 13,263,435 (+)NCBI
GRCh37113,359,819 - 13,369,057 (+)RGD
Build 36113,232,406 - 13,241,644 (+)NCBI Archive
HuRef112,037,906 - 12,044,726 (-)NCBI
CHM1_1113,379,440 - 13,388,677 (+)NCBI
T2T-CHM13v2.0112,695,431 - 12,704,668 (+)NCBI
Sequence:
1 to 10 of 10 rows
Protein RefSeqs NP_001013425 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI01345 (Get FASTA)   NCBI Sequence Viewer  
  AAI30275 (Get FASTA)   NCBI Sequence Viewer  
  AAI30277 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000478534.2
  ENSP00000480122
  ENSP00000480122.1
  ENSP00000482418.1
  ENSP00000488527.1
GenBank Protein Q5TYX0 (Get FASTA)   NCBI Sequence Viewer  
1 to 10 of 10 rows
RefSeq Acc Id: NP_001013425   ⟸   NM_001013407
- UniProtKB: A4FU31 (UniProtKB/Swiss-Prot),   A2BDD6 (UniProtKB/Swiss-Prot),   A0A087WWD0 (UniProtKB/Swiss-Prot),   A6NMV5 (UniProtKB/Swiss-Prot),   Q5TYX0 (UniProtKB/Swiss-Prot),   B7ZW04 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000480122   ⟸   ENST00000622421

Name Modeler Protein Id AA Range Protein Structure
AF-Q5TYX0-F1-model_v2 AlphaFold Q5TYX0 1-476 view protein structure



1 to 37 of 37 rows
Database
Acc Id
Source(s)
COSMIC PRAMEF5 COSMIC
Ensembl Genes ENSG00000270601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276420 UniProtKB/Swiss-Prot
  ENSG00000282424 UniProtKB/Swiss-Prot
  ENSG00000283150 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000618079.5 UniProtKB/Swiss-Prot
  ENST00000621481.4 UniProtKB/Swiss-Prot
  ENST00000622421 ENTREZGENE
  ENST00000622421.3 UniProtKB/Swiss-Prot
  ENST00000633074.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000270601 GTEx
  ENSG00000276420 GTEx
  ENSG00000282424 GTEx
  ENSG00000283150 GTEx
HGNC ID HGNC:27995 ENTREZGENE
Human Proteome Map PRAMEF5 Human Proteome Map
InterPro LRR_dom_sf UniProtKB/Swiss-Prot
  PRAME_domain UniProtKB/Swiss-Prot
  PRAME_family UniProtKB/Swiss-Prot
KEGG Report hsa:343068 UniProtKB/Swiss-Prot
NCBI Gene 343068 ENTREZGENE
PANTHER PRAME FAMILY MEMBER 11-RELATED UniProtKB/Swiss-Prot
  SIMILAR TO PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA-LIKE 3 UniProtKB/Swiss-Prot
PharmGKB PA142671142 PharmGKB
PIRSF PRAME UniProtKB/Swiss-Prot
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot
UniProt A0A087WWD0 ENTREZGENE
  A2BDD6 ENTREZGENE
  A4FU31 ENTREZGENE
  A6NMV5 ENTREZGENE
  B7ZW04 ENTREZGENE, UniProtKB/TrEMBL
  PRAM5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A087WWD0 UniProtKB/Swiss-Prot
  A2BDD6 UniProtKB/Swiss-Prot
  A4FU31 UniProtKB/Swiss-Prot
  A6NMV5 UniProtKB/Swiss-Prot
1 to 37 of 37 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PRAMEF5  PRAME family member 5  PRAMEF23  PRAME family member 23  Data merged from RGD:2300353 737654 PROVISIONAL