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HCMOGT-1 (sperm antigen HCMOGT-1)

Identity

HGNC (Hugo) SPECC1
Location 17p11.2
Location_base_pair Starts at 19930927 and ends at 20158659 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description 2,7 Kb; coding sequence: 2,2Kb

Protein

Description 759 ammino acids; 84, 92 KDa; contains coiled-coil domains.
Expression Widely expressed.

Implicated in

Entity t(5;17)(q33;p11.2) ---> PDGFRB/HCMOGT-1
Disease Juvenile myelomonocytic leukemia.
Hybrid/Mutated Gene 5' HCMOGT-1/3' PDGFRB
  

External links

Nomenclature
HGNC (Hugo)CYTSB   30615
Entrez_Gene (NCBI)CYTSB  92521  cytospin B
Cards
AtlasHCMOGT1ID174
GeneCards (Weizmann)CYTSB
Ensembl (Hinxton)ENSG00000128487 [Gene_View]  CYTSB [Vega]
AceView (NCBI)CYTSB
Genatlas (Paris)CYTSB
euGene (Indiana)92521
SOURCE (Stanford)NM_001033553 NM_001033554 NM_001033555 NM_152904
Genomic and cartography
GoldenPath (UCSC)CYTSB  -  17p11.2   chr17:19930927-20158659 +  17p11.2   [Description]    (hg18-Mar_2006)
EnsemblCYTSB - 17p11.2 [CytoView]
Mapping of homologs : NCBICYTSB [Mapview]
OMIM608793   
Gene and transcription
Gene : Genbank (Entrez)AB041533 AK295093 AK295811 AK298601 AK301318
Reference sequence (RefSeq transcript) :SRSNM_001033553 NM_001033554 NM_001033555 NM_152904
Reference transcript : EntrezNM_001033553 NM_001033554 NM_001033555 NM_152904
RefSeq genomic : SRSAC_000060 AC_000149 NC_000017 NT_010718 NW_001838423 NW_926617
RefSeq genomic : EntrezAC_000060 AC_000149 NC_000017 NT_010718 NW_001838423 NW_926617
Consensus coding sequences : CCDS NCBICYTSB
Cluster EST : UnigeneHs.431045 [ SRS ] Hs.431045 [ NCBI ]
Alternative Splicing : Fast-db (Paris)6363
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ5M775 (SRS) Q5M775 (Expasy) Q5M775 (Uniprot)
With graphics : InterProQ5M775
Splice isoforms : VarSplice FASTAQ5M775(VarSplice FASTA)
Domaine pattern : Prosite (SRS)CH (PS50021)   
Domain pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (SRS)Calponin-homology    Calponin_act_bd   
Domains : Interpro (EBI)Calponin-homology    Calponin_act_bd   
Related proteins : CluSTrQ5M775
Domain families : Pfam SRSCH (PF00307)   
Domain families : Pfam SangerCH (PF00307)   
Domain families : Pfam NCBIpfam00307   
Domain families : Smart EMBLCH (SM00033)
Blocks (Seattle)Q5M775
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD12301
Protein Interaction databases
DIP (DOE-UCLA)Q5M775
IntAct (EBI)Q5M775
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICYTSB
SNP : GeneSNP UtahCYTSB
SNP : HGBaseCYTSB
Genetic variants : HAPMAPCYTSB
Mutations and Diseases : HGMDCYTSB
Hereditary diseases : OMIM608793   
Hereditary diseases : GENETests608793   
Diseases : Genetic AssociationCYTSB
General knowledge
Homologs : HomoloGeneCYTSB
Homology/Alignments : Family Browser UCSCCYTSB
Phylogenetic Trees/Animal Genes : TreeFamCYTSB
Chemical/Protein Interactions : CTD92521
Keywords Ontology : AmiGOnucleus  
Keywords Ontology : EGO-EBInucleus  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSPECC1 Related clones (RZPD - Berlin)
Literature
PubMed9 Pubmed reference(s) in Entrez
PubGeneCYTSB

Bibliography

Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.
Laguinge LM, Lin S, Samara RN, Salesiotis AN, Jessup JM
Cancer research. 2004 ; 64 (8) : 2643-2648.
PMID 15087371
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2004Claudio Panarello
Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto G. Gaslini, L.go G.Gaslini, 5, 16147 Genova, Italy

Citation

This paper should be referenced as such :
Panarello C . HCMOGT-1 (sperm antigen HCMOGT-1). Atlas Genet Cytogenet Oncol Haematol. September 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/HCMOGT1ID174.html

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indexed on : Sat Jun 27 16:39:06 CEST 2009
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