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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASC1 Gene

protein-coding GIFtS: 47
GCID: GC12M025261

cancer susceptibility candidate 1

Explore 7 diseases affiliated with
CASC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cancer Susceptibility Candidate 1¹ ²		FLJ10921¹
LAS1¹ ² ³		Cancer Susceptibility Candidate Protein 1²
PPP1R54¹ ²		Protein Phosphatase 1, Regulatory Subunit 54²
Lung Adenoma Susceptibility 1-Like Protein² ³

External Ids:	HGNC: 29599¹	Entrez Gene: 55259²	Ensembl: ENSG00000118307⁷	UniProtKB: Q6TDU7³

Export aliases for CASC1 gene to outside databases

Previous GC identifers: GC12M025152 GC12M025031

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASC1 gene promoter:
HOXA9 HOXA9B RP58 LHX3b/Lhx3b ATF-2 C/EBPalpha Nkx6-1 LHX3a/Lhx3a Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASC1 promoter sequence

Search SABiosciences Chromatin IP Primers for CASC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.1 Ensembl cytogenetic band: 12p12.1 HGNC cytogenetic band: 12p12.1

CASC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASC1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M025261: view genomic region (about GC identifiers)

Start:	25,261,223 bp from pter	End:	25,348,096 bp from pter
Size:	86,874 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CASC1_HUMAN, Q6TDU7 (See protein sequence)

Recommended Name: Cancer susceptibility candidate protein 1

Size: 716 amino acids; 83160 Da

Sequence caution: Sequence=BAA91908.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA91908.1; Type=Frameshift; Positions=438;

Secondary accessions: Q17RL2 Q4G171 Q5U5K5 Q9NV50

Alternative splicing: 3 isoforms: Q6TDU7-1 Q6TDU7-2 Q6TDU7-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CASC1: NX_Q6TDU7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6TDU7

CASC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001076441.1 NP_001076442.1 NP_001191030.1 NP_001191031.1 NP_060742.3

ENSEMBL proteins:

ENSP00000451813 ENSP00000346126 ENSP00000379310 ENSP00000313141 ENSP00000379313

ENSP00000450703 ENSP00000437373 ENSP00000451011 ENSP00000451232 ENSP00000444715

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	Uscn Proteins for CASC1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005881	cytoplasmic microtubule	--	--

CASC1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CASC1 for domains About GeneDecksing

2 InterPro domains/families:

IPR022110 Casc1_domain

IPR023247 Casc1

Graphical View of Domain Structure for InterPro Entry Q6TDU7

ProtoNet protein and cluster: Q6TDU7

UniProtKB/Swiss-Prot: CASC1_HUMAN, Q6TDU7

Similarity: Belongs to the CASC1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASC1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008017	microtubule binding	--	--
GO:0048487	beta-tubulin binding	--	--

CASC1 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for CASC1:

Decreased POU5F1-GFP protein e

Decreased circadian period len

Decreased viability with pacli

Increased gamma-H2AX phosphory

Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Casc1):

homeostasis/metabolism

tumorigenesis

CASC1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CASC1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for CASC1 (ENSP00000379310⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TBP	ENSP00000230354⁴	STRING: ENSP00000230354
TAF13	ENSP00000355051⁴	STRING: ENSP00000355051
PPP1CA	ENSP00000326031⁴	STRING: ENSP00000326031

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CASC1
Search CenterWatch for drugs/clinical trials and news about CASC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASC1 gene (5 alternative transcripts):

NM_001082972.1 NM_001082973.1 NM_001204101.1 NM_001204102.1 NM_018272.3

Unigene Cluster for CASC1:

Cancer susceptibility candidate 1

Hs.407771 [show with all ESTs]

Unigene Representative Sequence: NM_001082972

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000556006 ENST00000354189(uc001rgm.4) ENST00000395987 ENST00000320267(uc001rgl.3 uc010sje.2 uc010sjf.2 uc010sjg.1)

ENST00000395990(uc001rgj.3 uc001rgk.3 uc010sjh.1) ENST00000554533

ENST00000545133 ENST00000555554 ENST00000557684 ENST00000556547 ENST00000556467

ENST00000554347 ENST00000555240 ENST00000537577

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Additional cDNA sequence:

AK001783.1 AK093102.1 AK297998.1 AK302235.1 AY423543.1 BC028415.1 BC031047.1 BC047415.1

BC057795.1 BC117281.1 BC117283.1

14 DOTS entries:

DT.121177033 DT.95193120 DT.95193139 DT.92008727 DT.100751634 DT.313034 DT.95109735 DT.100673007

DT.121176868 DT.92372554 DT.95193115 DT.100681118 DT.100753383 DT.97845140

24/52 AceView cDNA sequences (see all 52):

BX089754 BC057795 AA405364 AA478119 BC028415 AU134075 BC047415 AA398183

AY423543 NM_018272 AA969166 AI564668 AA837434 BI462993 BG507120 AK093102

AA421152 AI560169 BI560591 CF137352 BM979714 BX089472 AA397943 AA398350

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CASC1 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15
SP1:					-
SP2:
SP3:																	-		-		-		-		-

ECgene alternative splicing isoforms for CASC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CASC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGAAAGACA

About this image

CASC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Dorsal forebrain-like neurons (Generation of midbra...)

Brain

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CASC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASC1

SOURCE GeneReport for Unigene cluster: Hs.407771

SABiosciences Custom PCR Arrays for CASC1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CASC1 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Casc1^{1 , 5}	cancer susceptibility candidate 1^{1, 5}	71.12(n)¹ 68.52(a)¹		6 (77.37 cM)⁵ 320662¹ NM_177222.4¹ NP_796196.3¹ 145174834⁵
chicken (Gallus gallus)	Aves	CASC1¹	cancer susceptibility candidate 1	60.38(n) 49.79(a)		418206 XM_416435.3 XP_416435.3
lizard (Anolis carolinensis)	Reptilia	CASC1⁶	--	47(a)	1 ↔ 1	5(6208804-6224259)
zebrafish (Danio rerio)	Actinopterygii	casc1¹	cancer susceptibility candidate 1	52.19(n) 42.84(a)		566485 NM_001099454.1 NP_001092924.1
fruit fly (Drosophila melanogaster)	Insecta	CG15373¹	CG15373	39.21(n) 23.64(a)		32784 NM_133036.1 NP_573264.1

ENSEMBL Gene Tree for CASC1 (if available)
TreeFam Gene Tree for CASC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34131529^1,2	C	--	25032287(+)	`CCTTCA/CCCATG`	8	G V	mis¹		2		NA	4
rs1908947^1,2	C,F	--	25032449(+)	`CCCTCC/ACCTAA`	8	/G /V	mis¹		3		NA	8
rs76979540^1,2	F,	--	25032692(+)	`CAAATA/CTTTAT`	4	--	int¹		1		EA	120
rs7301073^1,2	C,	--	25033582(+)	`cagccC/Tcccat`	4	--	int¹		0	--	--	--	--
rs12581808^1,2	H	--	25033851(+)	`GTAGGG/CCCATC`	8	/A /G	mis¹		4		NS EA	416
rs77156774^1,2	C,F,	--	25034024(+)	`CTCTCT/GCAACA`	4	--	int¹		1		NA	120
rs75700820^1,2	F,	--	25034111(+)	`ACTCCC/TGACTC`	4	--	int¹		2		WA NA	238
rs58164474^1,2	F,	--	25034123(+)	`ACATAT/CACCCC`	4	--	int¹		1		WA	118
rs74073307^1,2	C,	--	25034353(+)	`ACACCC/TTATTT`	4	--	int¹		2		WA	120
rs74073308^1,2	C,	--	25034407(+)	`CCTTTC/TCTTTT`	4	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for CASC1 (25261223 - 25348096 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for CASC1
4 CNVs: 101457 101456 39101 49033
2 Indels: 45026 11605

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASC1

DNA2.0 Custom Variant and Variant Library Synthesis for CASC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CASC1 for disorders About GeneDecksing

7 diseases for CASC1: About MalaCards

lung adenoma adenoma inferior myocardial infarction myocardial infarction

lung adenocarcinoma lung cancer adenocarcinoma

1 disease from the University of Copenhagen DISEASES database for CASC1:

Lung adenoma

Human Genome Epidemiology (HuGE) Navigator: CASC1 (4 documents)

Export disorders for CASC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CASC1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with CASC1)

Utopia: connect your pdf to the dynamic
world of online information

Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. (PubMed id 14583591)^{1, 2, 3} Zhang Z.... You M. (2003)
A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. (PubMed id 16410263)^{1, 2} Manenti G....Dragani T.A. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)¹ Woods N.T....Monteiro A.N. (2012)
Genome-wide association analysis identifies multiple loci related to resting heart rate. (PubMed id 20639392)¹ Eijgelsheim M....O'Donnell C.J. (2010)
A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)¹ He C....Hunter D.J. (2010)
Association of KRAS polymorphisms with risk for lung adenocarcinoma accompanied by atypical adenomatous hyperplasias. (PubMed id 18299280)¹ Kohno T....Yokota J. (2008)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55259	HGNC: 29599	AceView: CASC1	Ensembl:ENSG00000118307	euGenes: HUgn55259
ECgene: CASC1	H-InvDB: CASC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CASC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASC1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CASC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CASC1 gene:
Search GeneIP for patents involving CASC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CASC1 gene at Home site.

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cancer susceptibility candidate 1

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cancer susceptibility candidate 1

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