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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CAV1 Gene

protein-coding GIFtS: 70
GCID: GC07P116164

caveolin 1, caveolae protein, 22kDa

(Previous names: caveolin 1, caveolae protein, 22kD )
(Previous symbol: CAV)

Explore 135 diseases affiliated with
CAV1 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
Caveolin 1, Caveolae Protein, 22kDa¹ ²		MSTP085²
CAV¹ ³		VIP21²
BSCL3² ⁵		Caveolin-1¹
CGL3² ⁵		Cell Growth-Inhibiting Protein 32²
Caveolin 1, Caveolae Protein, 22kD¹

External Ids:	HGNC: 1527¹	Entrez Gene: 857²	Ensembl: ENSG00000105974⁷	OMIM: 601047⁵	UniProtKB: Q03135³

Export aliases for CAV1 gene to outside databases

Previous GC identifers: GC07P114642 GC07P115705 GC07P115719 GC07P115758 GC07P115952 GC07P110530

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

Entrez Gene summary for CAV1:

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell

types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the

Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative

regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other

on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene

have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha

and beta isoforms of caveolin 1.(provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135

Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits

and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for

T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B

activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate

CTNNB1-mediated signaling through the Wnt pathway

Gene Wiki entry for CAV1 (Caveolin 1)

(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_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CAV1 gene promoter:
Sp1 AP-1 ATF-2 STAT3 Nkx2-5 IRF-1 c-Jun MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): CAV1 promoter sequence

Search SABiosciences Chromatin IP Primers for CAV1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAV1

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

Entrez Gene cytogenetic band: 7q31.1 Ensembl cytogenetic band: 7q31.2 HGNC cytogenetic band: 7q31

CAV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAV1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P116164: view genomic region (about GC identifiers)

Start:	116,164,839 bp from pter	End:	116,201,239 bp from pter
Size:	36,401 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 115,560,275-115,596,679

(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: CAV1_HUMAN, Q03135 (See protein sequence)

Recommended Name: Caveolin-1

Size: 178 amino acids; 20472 Da

Subunit: Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and syntaxin. Interacts with rotavirus A NSP4. Interacts

(via the N-terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP (By similarity).

Interacts with BMX and BTK

Subcellular location: Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane

protein. Membrane, caveola; Peripheral membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.

Potential hairpin-like structure in the membrane. Membrane protein of caveolae

Secondary accessions: Q9UGP1 Q9UNG1 Q9UQH6

Alternative initiation: 2 isoforms: Q03135-1 Q03135-2 (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2)

Explore the universe of human proteins at neXtProt for CAV1: NX_Q03135

Post-translational modifications:

The initiator methionine for isoform Beta is removed during or just after translation. The new N-terminal amino acid is

then N-acetylated¹

Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q03135

CAV1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001166366.1 NP_001166367.1 NP_001166368.1 NP_001744.2

ENSEMBL proteins:

ENSP00000339191 ENSP00000377113 ENSP00000409541 ENSP00000384348 ENSP00000389033

ENSP00000377111 ENSP00000377110

Reactome Protein details: Q03135
Human Recombinant Protein Products for CAV1:

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	Novus Biologicals CAV1 Protein Novus Biologicals CAV1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CAV1

Gene Ontology (GO): 5/29 cellular component terms (GO ID links to tree view) (see all 29): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0000299	integral to membrane of membrane fraction	--	--
GO:0002080	acrosomal membrane	IEA	--
GO:0005622	intracellular	IDA	15703204
GO:0005624	membrane fraction	--	--

CAV1 for ontologies About GeneDecksing

CAV1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CAV1
	R&D Systems Antibodies for CAV1 (Caveolin-1)
	Cell Signaling Technology (CST) Antibodies for CAV1 (caveolin-1)
	OriGene Antibodies (see all 4): CAV1 OriGene Custom Antibody Services for CAV1
	GenScript Custom Superior Antibodies Services for CAV1
	Novus Biologicals CAV1 Antibodies
	Abcam antibodies for CAV1
	Uscn Antibodies for CAV1
	ThermoFisher Antibody for CAV1

Assay Products for CAV1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CAV1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CAV1

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

CAV1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001612 Caveolin

IPR015504 Caveolin_1

IPR018361 Caveolin_CS

Graphical View of Domain Structure for InterPro Entry Q03135

ProtoNet protein and cluster: Q03135

1 Blocks protein family: IPB001612 Caveolin

UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135

Similarity: Belongs to the caveolin family

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: CAV1_HUMAN, Q03135

Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits

and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for

T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B

activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate

CTNNB1-mediated signaling through the Wnt pathway

Genatlas biochemistry entry for CAV1:

caveolin,major component of the inner surface of caveolae,small invaginations of the plasma membrane,expressed in

adipocytes,smooth muscle,type I pneumocytes,colocalizing and forming a stable hetero-oligomeric complex with CAV2,with

transforming suppressor activity abnormal expressed in T cell leukemia in lung carcinoma and in breast cell carcinoma

lines) s,relation to methylation of a CpG island in the 5'promoter region

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000149	SNARE binding	--	--
GO:0005102	receptor binding	IPI	16890161
GO:0005113	patched binding	IPI	11278759
GO:0005198	structural molecule activity	IDA	11865038
GO:0005515	protein binding	IPI	15703204

CAV1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CAV1:

Decreased focal adhesion (FA)

Decreased viability with carbo

15/21 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Cav1) (see all 21):

adipose tissue	behavior/neurological	cardiovascular system	cellular	digestive/alimentary
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	muscle	nervous system

CAV1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CAV1: Cav1^tm1Mls Cav1^tm1Tt Cav1^tm1Kur Cav1^tm1.1Aia

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CAV1

miRNA Products:		miRTarBase miRNAs that target CAV1: hsa-mir-124 (MIRT002719), hsa-mir-34c-5p (MIRT000752), hsa-mir-34b (MIRT000753)

		OriGene 3'-UTR Clone: CAV1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAV1
		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate CAV1 (see all 40):
		hsa-miR-548j hsa-miR-4328 hsa-miR-3074-3p hsa-miR-124 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-506 hsa-miR-510

		SwitchGear 3'UTR luciferase reporter plasmid: CAV1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAV1 (see all 7) OriGene shRNA RFP: CAV1 OriGene siRNA: CAV1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CAV1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CAV1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAV1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAV1 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): CAV1 (NM_001753)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CAV1
		Search LifeMap BioReagents cell lines for CAV1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAV1

(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

Unified GeneCards pathways - 5/43 super-pathways (see all 43) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism of nitric oxide

Metabolism of nitric oxide	1.00	NOSTRIN mediated translocation of eNOS from plasma membrane	0.29
eNOS activation and regulation	1.00	NOSTRIN mediated eNOS trafficking	0.29
eNOS activation	0.41

Focal Adhesion

	Focal Adhesion	1.00			Integrin-mediated cell adhesion	0.38
	Focal adhesion	0.66

G-protein signaling_G-Protein beta/gamma signaling cascades

G-protein signaling_G-Protein beta/gamma signaling cascades

1.00

G-protein signaling G-Protein beta/gamma signaling cascades

0.98

G-protein signaling_G-Protein alpha-i signaling cascades

G-protein signaling_G-Protein alpha-i signaling cascades

1.00

G-protein signaling G-Protein alpha-i signaling cascades

1.00

Development_TGF-beta receptor signaling

Development_TGF-beta receptor signaling

1.00

Development TGF-beta receptor signaling

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for CAV1 (see all 9)

	Development EDNRB signaling
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
	Development TGF-beta receptor signaling
	Translation Non-genomic (rapid) action of Androgen Receptor
	Development Ligand-independent activation of ESR1 and ESR2

5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAV1 (see all 7)

	G-Beta Gamma Signaling
	Remodeling of Adherens Junctions
	EGF Pathway
	eNOS Signaling
	Integrin Pathway

2 Cell Signaling Technology (CST) Pathways for CAV1

	Cytoskeletal Signaling
	Adhesion

5/12 GeneGo (Thomson Reuters) Pathways for CAV1 (see all 12)

	Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
	Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
	Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
	Translation Non-genomic (rapid) action of Androgen Receptor
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility

5/16 BioSystems Pathways for CAV1 (see all 16)

	Integrin-mediated cell adhesion
	EGFR1 Signaling Pathway
	Focal Adhesion
	TGF-beta Receptor Signaling Pathway
	Androgen receptor signaling pathway

5/9 Reactome Pathways for CAV1 (see all 9)

	Hemostasis
	NOSTRIN mediated eNOS trafficking
	eNOS activation and regulation
	eNOS activation
	Metabolism of nitric oxide

4 Kegg Pathways (Kegg details for CAV1):

	Endocytosis
	Focal adhesion
	Bacterial invasion of epithelial cells
	Viral myocarditis

CAV1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CAV1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/182 Interacting proteins for CAV1 (Q03135^{1, 2, 3} ENSP00000339191⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 182)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TXNRD1	Q16881²^,³, ENSP00000412045⁴	MINT-7307648 MINT-7307603 MINT-7307629 MINT-7307587 I2D: score=2 STRING: ENSP00000412045
PRKCDBP	Q969G5²^,³, ENSP00000307292⁴	MINT-7234685 MINT-7234785 MINT-7234696 MINT-7234742 I2D: score=1 STRING: ENSP00000307292
PTEN	P60484²^,³, ENSP00000361021⁴	MINT-6793865 MINT-6793823 I2D: score=5 STRING: ENSP00000361021
PTPRF	P10586²^,³, ENSP00000353030⁴	MINT-6793831 MINT-6793873 I2D: score=5 STRING: ENSP00000353030
CSK	P41240²^,³, ENSP00000220003⁴	MINT-8027662 I2D: score=5 STRING: ENSP00000220003

About this table

Gene Ontology (GO): 5/85 biological process terms (GO ID links to tree view) (see all 85): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	--
GO:0000165	MAPK cascade	IEA	--
GO:0000188	inactivation of MAPK activity	ISS	--
GO:0001525	angiogenesis	IEA	--
GO:0001570	vasculogenesis	ISS	--

CAV1 for ontologies About GeneDecksing

(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

CAV1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CAV1
10/104 Novoseek chemical compound relationships for CAV1 gene (see all 104) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
filipin	78	6	10973995 (1), 20501440 (1), 17335953 (1), 11880282 (1) (see all 6)
cholesterol	69.4	185	10833523 (5), 12269838 (5), 11073854 (4), 19175685 (4) (see all 95)
lipid	66.8	201	11980479 (4), 19887621 (4), 19059381 (3), 19250636 (3) (see all 99)
tyrosine	53.1	95	11094059 (7), 15466865 (4), 11339833 (3), 12354760 (3) (see all 52)
ganglioside	52.2	18	12354760 (4), 17942932 (4), 17704805 (2), 10866823 (1) (see all 8)
nitric oxide	51.1	137	18717816 (8), 9712842 (6), 17112410 (4), 19706615 (3) (see all 60)
sucrose	48.9	30	16038619 (1), 16415176 (1), 18056712 (1), 18079116 (1) (see all 22)
gm1 ganglioside	48	3	16427620 (1), 10859219 (1), 12226079 (1)
sterol	44.7	8	14992595 (3), 15226391 (1), 18849545 (1), 18353778 (1) (see all 6)
cyclodextrin	41	2	12529448 (1), 12372346 (1)

Search CenterWatch for drugs/clinical trials and news about CAV1

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 CAV1 gene (4 alternative transcripts):

NM_001172895.1 NM_001172896.1 NM_001172897.1 NM_001753.4

Unigene Cluster for CAV1:

Caveolin 1, caveolae protein, 22kDa

Hs.74034 [show with all ESTs]

Unigene Representative Sequence: NM_001172895

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

ENST00000341049(uc003vif.2 uc003vig.2) ENST00000393470 ENST00000451122

ENST00000489856 ENST00000405348(uc010lke.2 uc010lkd.2) ENST00000456473

ENST00000393468 ENST00000393467(uc003vih.3 uc010lkf.2)

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		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate CAV1 (see all 40):
		hsa-miR-548j hsa-miR-4328 hsa-miR-3074-3p hsa-miR-124 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-506 hsa-miR-510

		SwitchGear 3'UTR luciferase reporter plasmid: CAV1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAV1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CAV1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAV1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAV1 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): CAV1 (NM_001753)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAV1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAV1

Additional cDNA sequence:

AB209926.1 AB451284.1 AB451416.1 AF070648.1 AF074993.1 AF172085.1 AK290871.1 AK307501.1

AL133639.1 AY762103.1 BC009685.1 BC082246.1 BT007143.1 EF179101.1 EF179102.1 EF649773.1

EF649774.1 Z18951.1

24/27 DOTS entries (see all 27):

DT.100882864 DT.121125607 DT.100038859 DT.97862297 DT.454239 DT.121125557 DT.121125609 DT.121125597

DT.100718793 DT.100882861 DT.100882878 DT.100882870 DT.121125509 DT.91767518 DT.100882869 DT.95105984

DT.121125614 DT.121125615 DT.75119128 DT.100729430 DT.100882873 DT.100882874 DT.100882877 DT.95177882

24/834 AceView cDNA sequences (see all 834):

CB140215 CA434239 BP374697 AA972833 AL551225 CB108286 BM468701 T96567

CD517642 BP374109 AA780476 BM549065 AI095319 AW952168 BU194597 AA373326

AA461434 NM_001753 AA722546 CB069794 BM803912 AA911537 BM801832 N21091

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CAV1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	·	4d	·	4e
SP1:							-		-		-						-
SP2:							-		-		-		-				-
SP3:									-		-						-
SP4:											-						-
SP5:							-		-		-

ECgene alternative splicing isoforms for CAV1

(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

CAV1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTGTAAAG

About this image

CAV1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Alveoli

Alveolar Epithelial Type 1 Cells

Selective marker (cell-identifying gene)

Lung

Respiratory Bronchioles

Lung

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Matrigel embedded cells (Derivation of cardio...)

See CAV1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CAV1

SOURCE GeneReport for Unigene cluster: Hs.74034

UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135

Tissue specificity: Expressed in muscle and lung, less so in liver, brain and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including CAV1 (see all 13):

Fibrosis in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Cell Junction PathwayFinder in human mouse rat

VEGF Signaling in human mouse rat

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAV1

(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 CAV1 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CAV1¹	caveolin 1, caveolae protein, 22kDa	82.77(n) 86.52(a)		373996 NM_001105664.1 NP_001099134.1
lizard (Anolis carolinensis)	Reptilia	CAV1⁶	--	85(a)	1 ↔ 1	5(60983477-61016703)
African clawed frog (Xenopus laevis)	Amphibia	MGC68815²	hypothetical protein MGC68815	78.12(n)		BC061678.1
zebrafish (Danio rerio)	Actinopterygii	Dr.25966²	Transcribed sequence with strong similarity to protein spQ03135 (H.sapiens) CAV1_HUMAN Caveolin-1 less	94.48(n)		CD590363.1
honey bee (Apis mellifera)	Insecta	--	--	28(a)	possible ortholog	Group11.9(479912-480970)
worm (Caenorhabditis elegans)	Secernentea	cav-2⁶	Caveolin-2	13(a)	possible ortholog	V(13557148-13559910)

ENSEMBL Gene Tree for CAV1 (if available)
TreeFam Gene Tree for CAV1 (if available)

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

Paralogs for CAV1 gene

CAV2² CAV3²

2 SIMAP similar genes for CAV1 using alignment to 6 protein entries: CAV1_HUMAN (see all proteins):

CAV3 CAV2

CAV1 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4320488^1,2	C,F,A	--	115558361(+)	`cccccG/Atctct`	1	--	us2k¹		1		WA	118
rs4385407^1,2	C,F	--	115558422(+)	`tttcaG/Acattc`	1	--	us2k¹		9		NA WA CSA EA	370
rs2215449^1,2	C,F	--	115559390(+)	`AGCATA/GAGTAA`	2	--	us2k¹		9		NA MN WA	630
rs34552012^1,2	C,F,H	--	115559695(+)	`TATGGC/AATAAC`	2	--	us2k¹		8		MN NS NA	698
rs34915824^1,2	F	--	115559810(+)	`AAACGG/CATGGG`	3	--	us2k¹		5		MN	408
rs35308471^1,2	C,F	--	115559899(+)	`ACAGGC/GACCCA`	4	--	us2k¹		5		MN	408
rs6957212^1,2	C	--	115560328(+)	`CCTCTA/GCTGCC`	4	--	ut5¹ us2k¹ ese³		0	--	--	--	--
rs45498702^1,2	C	--	115560669(+)	`GCTGCC/TCTGGC`	4	--	int¹ us2k¹ ut5¹		1		NA	2
rs77735289^1,2	F	--	115561325(+)	`AGGGGG/TTCTGG`	4	--	int¹ us2k¹		1		WA	118
rs17160353^1,2	F	--	115561685(+)	`CTGCG-/GGT CCTGCGTGCTG`	4	--	int¹ us2k¹		2		MN EA	376

HapMap Linkage Disequilibrium report for CAV1 (116164839 - 116201239 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CAV1: --
Human Gene Mutation Database (HGMD): CAV1

5/8 SABiosciences Cancer Mutation PCR Assays for CAV1 (see all 8):

Cosmic Id	AA Change
98000125	p.I148L
98000124	p.F141L
98000122	p.C133R
98000126	p.F89L
98000120	p.W128*

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CAV1

DNA2.0 Custom Variant and Variant Library Synthesis for CAV1

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

CAV1 for disorders           About GeneDecksing

OMIM gene information: 601047
OMIM disorders: 612526
UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135

Defects in CAV1 are the cause of congenital generalized lipodystrophy type 3 (CGL3) [MIM:612526]; also called

Berardinelli-Seip congenital lipodystrophy type 3 (BSCL3). Congenital generalized lipodystrophies are autosomal

recessive disorders characterized by a near absence of adipose tissue, extreme insulin resistance,

hypertriglyceridemia, hepatic steatosis and early onset of diabetes

20/135 diseases for CAV1 (see all 135): About MalaCards

lipodystrophy lipodystrophy, congenital generalized, type 3 open-angle glaucoma primary open angle glaucoma

inclusion body myositis cerebral amyloid angiopathy renal clear cell carcinoma non-small cell lung carcinoma

congenital generalized lipodystrophy renal cell carcinoma clear cell renal cell carcinoma bile duct carcinoma

squamous cell carcinoma chromophobe renal cell carcinoma type 2 diabetes mellitus bladder transitional cell carcinoma

transitional cell carcinoma primary biliary cirrhosis carcinoma muscular dystrophy

5 diseases from the University of Copenhagen DISEASES database for CAV1:

Cholera Breast cancer Hypertension Prostate cancer

Atherosclerosis

10/89 Novoseek disease relationships for CAV1 gene (see all 89) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	49.4	434	18922892 (8), 12759258 (6), 17460461 (5), 11170154 (5) (see all 99)
cancer	46.2	147	12898235 (4), 18300018 (4), 15247769 (4), 15553909 (3) (see all 71)
prostate cancer	45.4	167	19581923 (7), 14634273 (6), 15948133 (6), 12352463 (5) (see all 42)
breast cancer	43.1	135	15305200 (8), 17915016 (5), 19342880 (5), 19483462 (4) (see all 48)
cholera	39.8	8	18729494 (1), 12794078 (1), 19438805 (1), 18316074 (1) (see all 7)
metastasis	36.3	112	19718715 (5), 14764125 (5), 19002186 (5), 15334058 (5) (see all 46)
colon cancer	32.7	31	15069532 (3), 17724373 (2), 11059785 (2), 18283336 (2) (see all 18)
hypertension pulmonary	30	8	19572028 (3), 18226570 (1), 20382348 (1), 18296499 (1) (see all 5)
adenocarcinoma	29.3	49	17606426 (6), 11345836 (4), 12402154 (2), 19160064 (2) (see all 23)
muscular dystrophies	29	2	17629760 (2)

Genetic Association Database (GAD): CAV1
Human Genome Epidemiology (HuGE) Navigator: CAV1 (27 documents)

Export disorders for CAV1 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 CAV1 gene, integrated from 9 sources (see all 1235):
(articles sorted by number of sources associating them with CAV1)

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

Caveolin-1 mutations (P132L and null) and the pathogenesis of breast cancer: caveolin-1 (P132L) behaves in a dominant-negative manner and caveolin-1 (-/-) null mice show mammary epithelial cell hyperplasia. (PubMed id 12368209)^{1, 2, 9} Lee H....Lisanti M.P. (2002)
Association of a CAV-1 haplotype to familial aggressive prostate cancer. (PubMed id 15948133)^{1, 4, 9} Haeusler J....Maier C. (2005)
Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx. (PubMed id 11751885)^{1, 2, 9} Vargas L....Mohamed A.J. (2002)
Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PubMed id 17287217)^{1, 2, 9} Ohnuma K....Morimoto C. (2007)
Translocation of endothelial nitric-oxide synthase involves a ternary complex with caveolin-1 and NOSTRIN. (PubMed id 16807357)^{1, 2, 9} Schilling K.... Icking A. (2006)
Human caveolin-1 and caveolin-2 are closely linked genes colocalized with WI-5336 in a region of 7q31 frequently deleted in tumors. (PubMed id 10087206)^{1, 3, 9} Fra A.M....Sitia R. (1999)
Analysis of the CAVEOLIN-1 gene at human chromosome 7q31.1 in primary tumours and tumour-derived cell lines. (PubMed id 10086342)^{1, 2, 9} Hurlstone A.F.... Black D.M. (1999)
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (PubMed id 18211975)^{1, 2} Kim C.A.... Magre J. (2008)
The rotavirus enterotoxin NSP4 directly interacts with the caveolar structural protein caveolin-1. (PubMed id 16501093)^{1, 2} Parr R.D.... Ball J.M. (2006)
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)^{1, 2} Aboulaich N.... Vener A.V. (2004)

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

		AND	OR
Aliases
Disorders
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: 857	HGNC: 1527	AceView: CAV1	Ensembl:ENSG00000105974	euGenes: HUgn857
ECgene: CAV1	Kegg: 857	H-InvDB: CAV1

(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 CAV1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CAV1	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Caveolin

Intellectual Property for CAV1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CAV1 gene:
Search GeneIP for patents involving CAV1

GeneCards and IP:
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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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CAV1 Gene

caveolin 1, caveolae protein, 22kDa

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CAV1 Gene

caveolin 1, caveolae protein, 22kDa

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