PROB1 (proline rich basic protein 1)

2014-11-01  

Identity

HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
C5orf65

Other Information

Locus ID:

NCBI: 389333
HGNC: 41906
Ensembl: ENSG00000228672

Variants:

dbSNP: 389333
ClinVar: 389333
TCGA: ENSG00000228672
COSMIC: PROB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000228672ENST00000434752E7EW31

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192407912009Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.24
277031472016Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.2

Citation

Dessen P

PROB1 (proline rich basic protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72236/prob1