SARNP (cytokine induced protein 29 kDa)

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

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.

Bibliography

Pubmed ID	Last Year	Title	Authors
15924260	2005	Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest.	Fukuda S et al
11922608	2002	Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.	Fukuda S et al
15284855	2004	A 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 ID	Transcript ID	Uniprot
ENSG00000205323	ENST00000336133	P82979
ENSG00000205323	ENST00000546604	P82979
ENSG00000205323	ENST00000552080	F8VZQ9
ENSG00000205323	ENST00000552884	F8VS12

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Transcription Termination	REACTOME	R-HSA-73856
Cleavage of Growing Transcript in the Termination Region	REACTOME	R-HSA-109688
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA 3'-end processing	REACTOME	R-HSA-72187
Transport of Mature Transcript to Cytoplasm	REACTOME	R-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing Transcript	REACTOME	R-HSA-159236

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17196963	2007	Intracellular characterization of DDX39, a novel growth-associated RNA helicase.	23
15338056	2004	Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function.	14
11922608	2002	Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.	13
27189710	2016	Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.	2

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/sarnp