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PRAMEF1 PRAME family member 1 [ Homo sapiens (human) ]

Gene ID: 65121, updated on 21-Dec-2019

Summary

Official Symbol
PRAMEF1provided by HGNC
Official Full Name
PRAME family member 1provided by HGNC
Primary source
HGNC:HGNC:28840
See related
Ensembl:ENSG00000116721
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PRAMEF1 in Genome Data Viewer
Location:
1p36.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (12791397..12796628)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12851546..12856777)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 158 Neighboring gene PRAME family member 12 Neighboring gene long intergenic non-protein coding RNA 1784 Neighboring gene PRAME family member 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027549.2 RefSeqGene

    Range
    4995..10226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001294139.1NP_001281068.1  PRAME family member 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC244670
  2. NM_023013.4NP_075389.2  PRAME family member 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC244670, AL049686, BC144199, DA903707
    Consensus CDS
    CCDS148.1
    UniProtKB/Swiss-Prot
    O95521
    UniProtKB/TrEMBL
    B7ZM17
    Related
    ENSP00000332134.7, ENST00000332296.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    12791397..12796628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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