PRAMEF26 (PRAME family member 26) - Rat Genome Database

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Gene: PRAMEF26 (PRAME family member 26) Homo sapiens
Analyze
No known orthologs.
Symbol: PRAMEF26 (Ensembl: PRAMEF25)
Name: PRAME family member 26 (Ensembl:PRAME family member 25)
RGD ID: 7371902
HGNC Page HGNC:49178
Description: Predicted to be involved in several processes, including negative regulation of DNA-templated transcription; negative regulation of apoptotic process; and positive regulation of cell population proliferation. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PRAME family member 25; PRAMEF25; putative PRAME family member 26
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,148,907 - 13,156,009 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,148,905 - 13,158,116 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl113,068,677 - 13,077,884 (+)EnsemblGRCh38hg38GRCh38
GRCh37113,216,358 - 13,219,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,138,943 - 13,142,281 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map1p36.21NCBI
CHM1_1113,274,479 - 13,278,337 (-)NCBICHM1_1
T2T-CHM13v2.0112,589,597 - 12,596,701 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3 copy number gain See cases [RCV000136288] Chr1:12666714..13181499 [GRCh38]
Chr1:12726725..13385572 [GRCh37]
Chr1:12649312..13258159 [NCBI36]
Chr1:1p36.21		 benign
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
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1 copy number loss See cases [RCV000139263] Chr1:12852720..13330100 [GRCh38]
Chr1:12912573..13448340 [GRCh37]
Chr1:12835160..13320927 [NCBI36]
Chr1:1p36.21		 likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
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 1p36.23-36.13(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 1p36.32-36.13(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
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 1
Below cutoff 28 52 13 5 26 4 61 35 45 1 50 16 1 21 41

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000614839   ⟹   ENSP00000481683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,068,677 - 13,077,884 (+)Ensembl
RefSeq Acc Id: ENST00000619661   ⟹   ENSP00000478309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,070,774 - 13,077,884 (+)Ensembl
RefSeq Acc Id: ENST00000624207   ⟹   ENSP00000485656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,148,907 - 13,156,009 (-)Ensembl
RefSeq Acc Id: ENST00000697342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,148,905 - 13,152,238 (-)Ensembl
RefSeq Acc Id: ENST00000697343   ⟹   ENSP00000513263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,148,905 - 13,158,116 (-)Ensembl
RefSeq Acc Id: NM_001306072   ⟹   NP_001293001
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,148,907 - 13,156,009 (-)NCBI
CHM1_1113,274,147 - 13,278,353 (-)NCBI
T2T-CHM13v2.0112,589,597 - 12,596,701 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001293001   ⟸   NM_001306072
- UniProtKB: H0Y7S4 (UniProtKB/Swiss-Prot),   A6NGN4 (UniProtKB/Swiss-Prot),   B7ZW04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000485656   ⟸   ENST00000624207
RefSeq Acc Id: ENSP00000481683   ⟸   ENST00000614839
RefSeq Acc Id: ENSP00000478309   ⟸   ENST00000619661
RefSeq Acc Id: ENSP00000513263   ⟸   ENST00000697343

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-H0Y7S4-F1-model_v2 AlphaFold H0Y7S4 1-382 view protein structure
AF-A6NGN4-F1-model_v2 AlphaFold A6NGN4 1-478 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:49178 AgrOrtholog
COSMIC PRAMEF26 COSMIC
Ensembl Genes ENSG00000229571 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000276299 UniProtKB/Swiss-Prot
  ENSG00000280267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281987 UniProtKB/Swiss-Prot
  ENSG00000282566 UniProtKB/Swiss-Prot
  ENSG00000283216 UniProtKB/Swiss-Prot
  ENSG00000283348 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000613059.4 UniProtKB/Swiss-Prot
  ENST00000614839.4 UniProtKB/Swiss-Prot
  ENST00000619661.3 UniProtKB/Swiss-Prot
  ENST00000624207 ENTREZGENE
  ENST00000624207.2 UniProtKB/Swiss-Prot
  ENST00000632559.1 UniProtKB/Swiss-Prot
  ENST00000633532.1 UniProtKB/Swiss-Prot
  ENST00000634012.1 UniProtKB/Swiss-Prot
  ENST00000635813.1 UniProtKB/Swiss-Prot
  ENST00000636185.1 UniProtKB/Swiss-Prot
  ENST00000636290.1 UniProtKB/Swiss-Prot
  ENST00000697343.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000229571 GTEx
  ENSG00000276299 GTEx
  ENSG00000280267 GTEx
  ENSG00000281987 GTEx
  ENSG00000282566 GTEx
  ENSG00000283216 GTEx
  ENSG00000283348 GTEx
HGNC ID HGNC:49178 ENTREZGENE
Human Proteome Map PRAMEF26 Human Proteome Map
InterPro LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRAME_family UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:441873 UniProtKB/Swiss-Prot
  hsa:645359 UniProtKB/Swiss-Prot
NCBI Gene PRAMEF26 ENTREZGENE
PANTHER PRAME FAMILY MEMBER 11-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIMILAR TO PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA-LIKE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166123727 PharmGKB
PIRSF PRAME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TMB0_HUMAN UniProtKB/TrEMBL
  A6NGN4 ENTREZGENE
  B7ZW04 ENTREZGENE, UniProtKB/TrEMBL
  H0Y7S4 ENTREZGENE
  PRA25_HUMAN UniProtKB/Swiss-Prot
  PRA26_HUMAN UniProtKB/Swiss-Prot