CRNKL1 (crooked neck pre-mRNA splicing factor 1)

2014-08-01  

Identity

HGNC
CRNKL1
LOCATION
20p11.23
LOCUSID
51340
ALIAS
CLF,CRN,Clf1,HCRN,MSTP021,SYF3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51340
MIM: 610952
HGNC: 15762
Ensembl: ENSG00000101343

Variants:

dbSNP: 51340
ClinVar: 51340
TCGA: ENSG00000101343
COSMIC: CRNKL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101343ENST00000377327Q5JY65
ENSG00000101343ENST00000377340Q9BZJ0
ENSG00000101343ENST00000490910A0A0C4DGD7
ENSG00000101343ENST00000496549Q9BZJ0
ENSG00000101343ENST00000536226Q9BZJ0

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

References

Pubmed IDYearTitleCitations
334686852021CRNKL1 Is a Highly Selective Regulator of Intron-Retaining HIV-1 and Cellular mRNAs.12
334686852021CRNKL1 Is a Highly Selective Regulator of Intron-Retaining HIV-1 and Cellular mRNAs.12
172968752007Corin I555(P568) allele is associated with enhanced cardiac hypertrophic response to increased systemic afterload.62
172968752007Corin I555(P568) allele is associated with enhanced cardiac hypertrophic response to increased systemic afterload.62
120845752002Crooked neck is a component of the human spliceosome and implicated in the splicing process.14
120845752002Crooked neck is a component of the human spliceosome and implicated in the splicing process.14

Citation

Dessen P

CRNKL1 (crooked neck pre-mRNA splicing factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54239/crnkl1-(crooked-neck-pre-mrna-splicing-factor-1)