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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CAPSL Gene

protein-coding GIFtS: 43
GCID: GC05M035905

calcyphosine-like

Search for CAPSL
in

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
Calcyphosine-Like¹
MGC26610¹
Calcyphosin-Like Protein²

External Ids:	HGNC: 28375¹	Entrez Gene: 133690²	Ensembl: ENSG00000152611⁷	UniProtKB: Q8WWF8³

Export aliases for CAPSL gene to outside databases

Previous GC identifers: GC05M035941 GC05M035854

(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_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CAPSL gene promoter:
CBF-A CBF-B FOXF2 CP1A CBF(2) CBF-C
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAPSL promoter sequence

Search SABiosciences Chromatin IP Primers for CAPSL

Epigenetics:

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

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

Entrez Gene cytogenetic band: 5p13.2 Ensembl cytogenetic band: 5p13.2 HGNC cytogenetic band: 5p13.2

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

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M035905: view genomic region (about GC identifiers)

Start:	35,904,397 bp from pter	End:	35,938,881 bp from pter
Size:	34,485 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: CAPSL_HUMAN, Q8WWF8 (See protein sequence)

Recommended Name: Calcyphosin-like protein

Size: 208 amino acids; 24229 Da

Subcellular location: Cytoplasm (Potential)

Sequence caution: Sequence=AAH17586.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for CAPSL: NX_Q8WWF8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WWF8

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

REFSEQ proteins (2 alternative transcripts):

NP_001036090.1 NP_653248.3

ENSEMBL proteins:

ENSP00000380524 ENSP00000424806 ENSP00000421018 ENSP00000380523

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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:0005737	cytoplasm	IEA	--

CAPSL for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CAPSL

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

CAPSL for domains About GeneDecksing

4 InterPro domains/families:

IPR001125 Recoverin

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry Q8WWF8

ProtoNet protein and cluster: Q8WWF8

UniProtKB/Swiss-Prot: CAPSL_HUMAN, Q8WWF8

Similarity: Contains 4 EF-hand domains

(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

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

CAPSL for ontologies About GeneDecksing

Animal Models:
1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Capsl):

no phenotypic analysis

CAPSL 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 CAPSL

(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 CAPSL
Search CenterWatch for drugs/clinical trials and news about CAPSL

(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,
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About This Section

REFSEQ mRNAs for CAPSL gene (2 alternative transcripts):

NM_001042625.1 NM_144647.3

Unigene Cluster for CAPSL:

Calcyphosine-like

Hs.55150 [show with all ESTs]

Unigene Representative Sequence: NM_144647

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

ENST00000397367(uc003jju.1) ENST00000513623 ENST00000514524 ENST00000397366(uc003jjt.1)

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Additional cDNA sequence: BC017586.2

3 DOTS entries:

DT.95366678 DT.107221 DT.120810611

24/28 AceView cDNA sequences (see all 28):

BM983750 BM975803 NM_144647 BX090721 BM970798 AA885514 BC017586 BI827184

CB851555 AI818811 AW292295 W25222 CD702475 BG771879 BG199953 AW571544

AI336032 AI925136 AA934359 CD687387 BG213998 BG221250 CD707583 N95268

GeneLoc Exon Structure

(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

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

About this image

CAPSL expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Brain

Fourth Ventricle

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

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

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

SOURCE GeneReport for Unigene cluster: Hs.55150

SABiosciences Custom PCR Arrays for CAPSL

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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 CAPSL gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Capsl^{1 , 5}	calcyphosine-like^{1, 5}	89.42(n)¹ 94.71(a)¹		15 (4.09 cM)⁵ 75568¹ NM_029341.1¹ NP_083617.2¹ 9436028⁵
chicken (Gallus gallus)	Aves	CAPSL¹	calcyphosine-like	79.49(n) 83.17(a)		426055 XM_001232404.1 XP_001232405.1
lizard (Anolis carolinensis)	Reptilia	CAPSL⁶	--	83(a)	1 ↔ 1	GL343241.1(1609978-1616769)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18844²	Xenopus laevis transcribed sequence with weak similarity more	89.03(n)		BI446724.1
zebrafish (Danio rerio)	Actinopterygii	wufj05b10²	wufj05b10	73.31(n)		335351 57071351
fruit fly (Drosophila melanogaster)	Insecta	CG10126¹	CG10126	55.95(n) 51.76(a)		41579 NM_141977.2 NP_650234.3

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

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

Paralogs for CAPSL gene

CAPS2² CAPS²

7 SIMAP similar genes for CAPSL using alignment to 3 protein entries: CAPSL_HUMAN (see all proteins):

CAPS FLJ00390 TNNC1 CALML5 TNNC2 CAPS2

CALM3

CAPSL for paralogs About GeneDecksing

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs16902637^1,2	C,F,	--	35886915(+)	`AGAGCC/AAAATT`	1	--	us2k¹		5	NA WA	262
rs73094073^1,2	C,	--	35887068(+)	`CATCCC/TGCATT`	1	--	us2k¹		2	WA	120
rs76884842^1,2	F,	--	35887205(+)	`TTTCAA/GAAGAC`	1	--	us2k¹		1	WA	118
rs76539201^1,2	F,	--	35888035(+)	`AGCATC/ACTGAT`	1	--	us2k¹		1	NA	120
rs16902638^1,2	C,F,H,	--	35888614(+)	`ACTGGT/ACCCTC`	1	--	us2k¹		10	NA NS EA WA CSA	678
rs16902639^1,2	C,F,H,	--	35888888(+)	`TAGAAC/GAGCAT`	1	--	nc-transcript-variant		10	NA NS EA WA	684
rs75281963^1,2	F,	--	35889097(+)	`GCATTT/CGCAGA`	1	--	int¹		1	WA	118
rs74716038^1,2	C,F,	--	35889540(+)	`AAGTTC/TTTTCA`	1	--	int¹		1	WA	118
rs74415871^1,2	F,	--	35890097(+)	`CTGACA/GATCAA`	1	--	ds500¹		1	NA	120
rs7730536^1,2	C,F,H,	--	35890300(+)	`aatgaG/Cgatga`	1	--	ds500¹		5	NS EA WA	422

HapMap Linkage Disequilibrium report for CAPSL (35904397 - 35938881 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CAPSL
1 CNV: 0062

SABiosciences Cancer Mutation PCR Assays

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(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

CAPSL for disorders About MalaCards

CAPSL for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: CAPSL (1 document)

Export disorders for CAPSL 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 CAPSL gene integrated from 9 sources:
(articles sorted by number of sources associating them with CAPSL)

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Study of the association between the CAPSL-IL7R locus and type 1 diabetes. (PubMed id 18563381)¹ Santiago J.L....Urcelay E. (2008)
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (PubMed id 17554260)¹ Todd J.A.... Clayton D.G. (2007)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)
Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)¹ Hillier L.D....Marra M. (1996)

(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: 133690	HGNC: 28375	AceView: MGC26610	Ensembl:ENSG00000152611	euGenes: HUgn133690
ECgene: CAPSL	H-InvDB: CAPSL

(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 CAPSL	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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),
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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPSL

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPSL

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 CAPSL gene at Home site.

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CAPSL Gene

calcyphosine-like

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Export list of displayed genes

CAPSL Gene

calcyphosine-like

Aliasesfor CAPSL gene

Summariesfor CAPSL gene

Genomic Viewsfor CAPSL gene

Proteinsfor CAPSL gene

Protein Domains /Familiesfor CAPSL gene

Functionfor CAPSL gene

Pathways & Interactionsfor CAPSL gene

Drugs & Compoundsfor CAPSL gene

Transcriptsfor CAPSL gene

Expression for CAPSL gene

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External Searches for CAPSL gene

Genome Databases showing CAPSL gene

Other Databases showing CAPSL gene

Specialized Databases showing CAPSL gene

Intellectual Propertyfor CAPSL gene

Productsfor CAPSL gene

View Random Gene

Aliases
for CAPSL gene

Summaries
for CAPSL gene

Genomic Views
for CAPSL gene

Proteins
for CAPSL gene

Protein Domains /
Families
for CAPSL gene

Function
for CAPSL gene

Pathways & Interactions
for CAPSL gene

Drugs & Compounds
for CAPSL gene

Transcripts
for CAPSL gene

Expression
for CAPSL gene

Orthologs
for CAPSL gene

Paralogs
for CAPSL gene

Genomic Variants
for CAPSL gene

Disorders / Diseases
for CAPSL gene

Publications
for CAPSL gene

Intellectual Property
for CAPSL gene

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for CAPSL gene