HCMOGT-1 (sperm antigen HCMOGT-1)

Identity

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

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	SPECC1   30615
Entrez_Gene	SPECC1  92521  sperm antigen with calponin homology and coiled-coil domains 1
	Cards
Atlas	HCMOGT1ID174
GeneCards	SPECC1
Ensembl	SPECC1 [Search_View]   ENSG00000128487 [Gene_View]  SPECC1 [Vega]
Genatlas	SPECC1
GeneLynx	SPECC1
eGenome	SPECC1
euGene	92521
	Genomic and cartography
GoldenPath	SPECC1  -  17p11.2   chr17:19930927-20158659 +  17p11.2   [Description]    (hg18-Mar_2006)
Ensembl	SPECC1 - 17p11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SPECC1
	Gene and transcription
Genbank	AB041533 [ ENTREZ ]
Genbank	AK314341 [ ENTREZ ]
Genbank	AY816326 [ ENTREZ ]
Genbank	AY816327 [ ENTREZ ]
Genbank	AY816328 [ ENTREZ ]
RefSeq	NM_001033553 [ SRS ]    NM_001033553 [ ENTREZ ]
RefSeq	NM_001033554 [ SRS ]    NM_001033554 [ ENTREZ ]
RefSeq	NM_001033555 [ SRS ]    NM_001033555 [ ENTREZ ]
RefSeq	NM_152904 [ SRS ]    NM_152904 [ ENTREZ ]
RefSeq	AC_000060 [ SRS ]    AC_000060 [ ENTREZ ]
RefSeq	AC_000149 [ SRS ]    AC_000149 [ ENTREZ ]
RefSeq	NC_000017 [ SRS ]    NC_000017 [ ENTREZ ]
RefSeq	NT_010718 [ SRS ]    NT_010718 [ ENTREZ ]
RefSeq	NW_001838423 [ SRS ]    NW_001838423 [ ENTREZ ]
RefSeq	NW_926617 [ SRS ]    NW_926617 [ ENTREZ ]
CCDS	SPECC1 CCDS - NCBI
AceView	SPECC1 AceView - NCBI
Unigene	Hs.431045 [ SRS ]    Hs.431045 [ NCBI ]     HS431045 [ spliceNest ]
Fast-db	6363 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q5M775 [ SRS]    Q5M775 [ EXPASY ]     Q5M775 [ INTERPRO ]     Q5M775 [ UNIPROT ] Q5M775 [ VarSplice ]
Prosite	PS50021 CH [ SRS ]    PS50021 CH [ Expasy ]
Interpro	IPR016146 Calponin-homology [ SRS ]    IPR016146 Calponin-homology [ EBI ]
Interpro	IPR001715 Calponin_act_bd [ SRS ]    IPR001715 Calponin_act_bd [ EBI ]
CluSTr	Q5M775
Pfam	PF00307 CH [ SRS ]    PF00307 CH [ Sanger ]    pfam00307 [ NCBI-CDD ]
Smart	SM00033 CH [EMBL]
Blocks	Q5M775
HPRD	12301
	Protein Interaction databases
DIP	Q5M775
IntAct	Q5M775
	Polymorphism : SNP, mutations, diseases
OMIM	608793    [ map ]
GENECLINICS	608793
SNP	SPECC1 [dbSNP-NCBI]
SNP	NM_001033553 [SNP-NCI]
SNP	NM_001033554 [SNP-NCI]
SNP	NM_001033555 [SNP-NCI]
SNP	NM_152904 [SNP-NCI]
SNP	SPECC1 [GeneSNPs - Utah]  SPECC1] [HGBASE - SRS]
HAPMAP	SPECC1 [HAPMAP]
COSMIC	SPECC1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	SPECC1 [Translocation breakpoints In Cancer]
HGMD	SPECC1
Genetic Association	SPECC1
CDC HuGE	SPECC1
	General knowledge
Family Browser	SPECC1 [UCSC Family Browser]
SOURCE	NM_001033553
SOURCE	NM_001033554
SOURCE	NM_001033555
SOURCE	NM_152904
SMD	Hs.431045
SAGE	Hs.431045
GO	nucleus [Amigo]  nucleus
PubGene	SPECC1
TreeFam	SPECC1
CTD	92521 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SPECC1 Related clones (RZPD - Berlin)
	PubMed
PubMed	8 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2004	Claudio 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:41:30 2008