PKHD1L1 (PKHD1 like 1)

2014-08-01  

Identity

HGNC
LOCATION
8q23.1
LOCUSID
ALIAS
PKHDL1
FUSION GENES

Other Information

Locus ID:

NCBI: 93035
MIM: 607843
HGNC: 20313
Ensembl: ENSG00000205038

Variants:

dbSNP: 93035
ClinVar: 93035
TCGA: ENSG00000205038
COSMIC: PKHD1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205038ENST00000378402Q86WI1
ENSG00000205038ENST00000526472H0YF65

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
384593542024PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.2
384593542024PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.2
382035302023Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma.1
382035302023Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma.1
285566382016[Role of PLAT, PKHD1L1, STK38L and TEAD1 genes Alu-polymorphism for longevity].1
285566382016[Role of PLAT, PKHD1L1, STK38L and TEAD1 genes Alu-polymorphism for longevity].1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
126209742003PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.24
126209742003PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.24

Citation

Dessen P

PKHD1L1 (PKHD1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54537/pkhd1l1-(pkhd1-like-1)