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SARNP (cytokine induced protein 29 kDa)

Written2005-08Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)THO1
Hcc-1
CIP29
Other aliasHCC-1
HGNC (Hugo) SARNP
LocusID (NCBI) 84324
Atlas_Id 42967
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 55757270 and ends at 55817756 bp from pter ( according to hg19-Feb_2009)  [Mapping SARNP.png]
Fusion genes
(updated 2016)
KMT2A (11q23.3) / SARNP (12q13.2)RBMS2 (12q13.3) / SARNP (12q13.2)RILPL1 (12q24.31) / SARNP (12q13.2)
SARNP (12q13.2) / C7orf73 (7q33)SARNP (12q13.2) / HDLBP (2q37.3)SARNP (12q13.2) / KMT2A (11q23.3)
TOMM20 (1q42.3) / SARNP (12q13.2)
Note HCC-1 is an alias for CIP29 (12q13), but also for CCL14 (17q11.2)

Protein

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

Note
  
Entity M4 acute myeloid leukemia (AML) with t(11;12)(q23;q13) --> (MLL/CIP29)
Note only one case to date
Prognosis unknown
Hybrid/Mutated Gene 5' MLL - 3' CIP29 including the 9 first exons of MLL, and nearly the entire CIP29
Abnormal 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

Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest.
Fukuda S, Pelus LM
Cellular and molecular life sciences : CMLS. 2005 ; 62 (13) : 1526-1527.
PMID 15924260
 
Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.
Fukuda S, Wu DW, Stark K, Pelus LM
Biochemical and biophysical research communications. 2002 ; 292 (3) : 593-600.
PMID 11922608
 
A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia.
Hashii Y, Kim JY, Sawada A, Tokimasa S, Hiroyuki F, Ohta H, Makiko K, Takihara Y, Ozono K, Hara J
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (9) : 1546-1548.
PMID 15284855
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
CIP29 (cytokine induced protein 29 kDa)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):305-305.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CIP29ID42967ch12q13.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;12)(q23;q13) KMT2A/SARNP


External links

Nomenclature
HGNC (Hugo)SARNP   24432
Cards
AtlasCIP29ID42967ch12q13
Entrez_Gene (NCBI)SARNP  84324  SAP domain containing ribonucleoprotein
AliasesCIP29; HCC1; HSPC316; THO1
GeneCards (Weizmann)SARNP
Ensembl hg19 (Hinxton)ENSG00000205323 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205323 [Gene_View]  chr12:55757270-55817756 [Contig_View]  SARNP [Vega]
ICGC DataPortalENSG00000205323
TCGA cBioPortalSARNP
AceView (NCBI)SARNP
Genatlas (Paris)SARNP
WikiGenes84324
SOURCE (Princeton)SARNP
Genetics Home Reference (NIH)SARNP
Genomic and cartography
GoldenPath hg38 (UCSC)SARNP  -     chr12:55757270-55817756 -  12q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SARNP  -     12q13.2   [Description]    (hg19-Feb_2009)
EnsemblSARNP - 12q13.2 [CytoView hg19]  SARNP - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBISARNP [Mapview hg19]  SARNP [Mapview hg38]
OMIM610049   
Gene and transcription
Genbank (Entrez)AF161434 AF486281 AK222719 AK290508 BC007099
RefSeq transcript (Entrez)NM_033082
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SARNP
Cluster EST : UnigeneHs.505676 [ NCBI ]
CGAP (NCI)Hs.505676
Alternative Splicing GalleryENSG00000205323
Gene ExpressionSARNP [ NCBI-GEO ]   SARNP [ EBI - ARRAY_EXPRESS ]   SARNP [ SEEK ]   SARNP [ MEM ]
Gene Expression Viewer (FireBrowse)SARNP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84324
GTEX Portal (Tissue expression)SARNP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP82979   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP82979  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP82979
Splice isoforms : SwissVarP82979
PhosPhoSitePlusP82979
Domaine pattern : Prosite (Expaxy)SAP (PS50800)   
Domains : Interpro (EBI)SAP_dom   
Domain families : Pfam (Sanger)SAP (PF02037)   
Domain families : Pfam (NCBI)pfam02037   
Domain families : Smart (EMBL)SAP (SM00513)  
Conserved Domain (NCBI)SARNP
DMDM Disease mutations84324
Blocks (Seattle)SARNP
PDB (SRS)2DO1   
PDB (PDBSum)2DO1   
PDB (IMB)2DO1   
PDB (RSDB)2DO1   
Structural Biology KnowledgeBase2DO1   
SCOP (Structural Classification of Proteins)2DO1   
CATH (Classification of proteins structures)2DO1   
SuperfamilyP82979
Human Protein AtlasENSG00000205323
Peptide AtlasP82979
HPRD16716
IPIIPI00014938   IPI01015600   IPI01022436   IPI01021985   
Protein Interaction databases
DIP (DOE-UCLA)P82979
IntAct (EBI)P82979
FunCoupENSG00000205323
BioGRIDSARNP
STRING (EMBL)SARNP
ZODIACSARNP
Ontologies - Pathways
QuickGOP82979
Ontology : AmiGOtranscription export complex  P-body  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  mRNA export from nucleus  regulation of translation  nuclear speck  mRNA 3'-end processing  
Ontology : EGO-EBItranscription export complex  P-body  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  mRNA export from nucleus  regulation of translation  nuclear speck  mRNA 3'-end processing  
REACTOMEP82979 [protein]
REACTOME PathwaysR-HSA-72187 [pathway]   
NDEx NetworkSARNP
Atlas of Cancer Signalling NetworkSARNP
Wikipedia pathwaysSARNP
Orthology - Evolution
OrthoDB84324
GeneTree (enSembl)ENSG00000205323
Phylogenetic Trees/Animal Genes : TreeFamSARNP
HOVERGENP82979
HOGENOMP82979
Homologs : HomoloGeneSARNP
Homology/Alignments : Family Browser (UCSC)SARNP
Gene fusions - Rearrangements
Fusion : MitelmanRILPL1/SARNP [12q24.31/12q13.2]  [t(12;12)(q13;q24)]  
Fusion : COSMICKMT2A [11q23.3]  -  SARNP [12q13.2]  [fusion_1848]  [fusion_1849]  
Fusion: TCGARILPL1 12q24.31 SARNP 12q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSARNP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SARNP
dbVarSARNP
ClinVarSARNP
1000_GenomesSARNP 
Exome Variant ServerSARNP
ExAC (Exome Aggregation Consortium)SARNP (select the gene name)
Genetic variants : HAPMAP84324
Genomic Variants (DGV)SARNP [DGVbeta]
DECIPHERSARNP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSARNP 
Mutations
ICGC Data PortalSARNP 
TCGA Data PortalSARNP 
Broad Tumor PortalSARNP
OASIS PortalSARNP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSARNP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSARNP
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SARNP
DgiDB (Drug Gene Interaction Database)SARNP
DoCM (Curated mutations)SARNP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SARNP (select a term)
intoGenSARNP
NCG5 (London)SARNP
Cancer3DSARNP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610049   
Orphanet
MedgenSARNP
Genetic Testing Registry SARNP
NextProtP82979 [Medical]
TSGene84324
GENETestsSARNP
Target ValidationSARNP
Huge Navigator SARNP [HugePedia]
snp3D : Map Gene to Disease84324
BioCentury BCIQSARNP
ClinGenSARNP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84324
Chemical/Pharm GKB GenePA165513309
Clinical trialSARNP
Miscellaneous
canSAR (ICR)SARNP (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSARNP
EVEXSARNP
GoPubMedSARNP
iHOPSARNP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 22 09:07:51 CEST 2017

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.