SARNP (cytokine induced protein 29 kDa)

2005-08-01   Jean-Loup Huret  , Sylvie Senon  

Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
SARNP
LOCATION
12q13.2
LOCUSID
84324
ALIAS
CIP29,HCC1,HSPC316,THO1
FUSION GENES
Show Gene Fusions

Proteins

Description

210 amino acids, 29 kDa;contains from N term to C term a SAP domain and 2 nuclear localization domains, and also 3 possible N-glycosylation sites and 9 potential phosphorylation sites. A SAP domain is a putative DNA binding motif involved in chromosomal organization and may regulate transcription, DNA repair, RNA processing.

Expression

Widely expressed in fetal and adult tissues, as well as cancer cell lines; upregulated by EPO (erythropoietin), TPO (thrombopoietin), FL (FLT3 Ligand), and SCF (stem cell factor). Associated with cell cycle progression

Localisation

Nucleus but some staining was also found in the cytoplasm.

Implicated in

Entity name
M4 acute myeloid leukemia (AML) with t(11;12)(q23;q13) --> KMT2A/SARNP
Note
only one case to date
Prognosis
unknown
Hybrid gene
5 MLL - 3 CIP29 including the 9 first exons of MLL, and nearly the entire CIP29
Fusion protein
The fusion protein includes from N term to C term the AT hooks and the methyltransferase domain of MLL and the SAP domain and the C term nuclear localization domains of CIP29.

Article Bibliography

Pubmed IDLast YearTitleAuthors
159242602005Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest.Fukuda S et al
119226082002Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.Fukuda S et al
152848552004A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia.Hashii Y et al

Other Information

Locus ID:

NCBI: 84324
MIM: 610049
HGNC: 24432
Ensembl: ENSG00000205323

Variants:

dbSNP: 84324
ClinVar: 84324
TCGA: ENSG00000205323
COSMIC: SARNP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205323ENST00000336133P82979
ENSG00000205323ENST00000546604P82979
ENSG00000205323ENST00000552080F8VZQ9
ENSG00000205323ENST00000552884F8VS12

Expression (GTEx)

0
50
100
150
200
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
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375788632023Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.3
375788632023Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.3
313138372020SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.11
313138372020SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.11
271897102016Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.4
271897102016Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.4
171969632007Intracellular characterization of DDX39, a novel growth-associated RNA helicase.33
171969632007Intracellular characterization of DDX39, a novel growth-associated RNA helicase.33
153380562004Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function.14
153380562004Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function.14
119226082002Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.15
119226082002Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.15

Citation

Jean-Loup Huret ; Sylvie Senon

SARNP (cytokine induced protein 29 kDa)

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/gene/42967/meetings/favicon/teaching-explorer/