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KALRN Gene

protein-coding GIFtS: 54

GC03P125297

kalirin, RhoGEF kinase
(Previous name: huntingtin-associated protein interacting protein (duo) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HAPIP)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
DUET ^¹, ², ³
DUO ^³
EC 2.7.11.1 ^³
FLJ16443 ^²
HAPIP ^², ³
Kalirin ^¹
OTTHUMP00000165775 ^²
TRAD ^¹, ², ³
duo ^¹, ²

Descriptions
Huntingtin-associated protein-interacting protein ^³
Protein Duo ^³
Serine/threonine kinase with Dbl- and pleckstrin homology domain ^³
huntingtin-associated protein interacting protein (duo) ^¹, ²
kalirin, RhoGEF kinase ^²
serine/threonine kinase with Dbl- and pleckstrin homology domains ^²

External Ids
HGNC: 4814¹
Entrez Gene: 8997²
UniProtKB: O60229³
Ensembl: ENSG00000160145⁷

Search outside databases for aliases for KALRN gene

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

EntrezGene summary for KALRN:

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal

neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This

gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a

huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced

transcript variants encoding different isoforms have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229

Function: Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members,

thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and

plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of

its GEF activity

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KALRN gene

Entrez Gene cytogenetic band: 3q21.1-q21.2 Ensembl cytogenetic band: 3q21.1 HGNC cytogenetic band: 3q21.2

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

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P125297: (about GC identifiers)

Start:	125,296,275 bp from pter
End:	125,922,726 bp from pter
Size:	626,452 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_005612.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229 (See protein sequence)

Recommended Name: Kalirin

Size: 2985 amino acids; 340174 Da

Cofactor: Magnesium

Subunit: Interacts with the C-terminal of peptidylglycine alpha-amidating monooxygenase (PAM) and

with the huntingtin-associated protein 1 (HAP1) (By similarity)

Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton

Miscellaneous: Called DUO because the encoded protein is closely related to but shorter than TRIO

Sequence caution: Sequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.

Potential poly-A sequence;

Secondary accessions: A8MSI4 Q6ZN45 Q8TBQ5 Q9NSZ4 Q9Y2A5

Alternative splicing, Alternative initiation: 6 isoforms: O60229-1 O60229-2 O60229-3 O60229-4 O60229-5 O60229-6

Post-translational modifications:

Autophosphorylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001019831.2 NP_003938.1 NP_008995.2

ENSEMBL proteins:

ENSP00000291478 ENSP00000346122 ENSP00000377134 ENSP00000377136 ENSP00000240874 ENSP00000377138

ENSP00000353109

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KALRN)
	Human Recombinant Proteins from Abnova (KALRN)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0015629	actin cytoskeleton	TAS	10023074

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Antibodies for KALRN:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of KALRN
	Sigma-Aldrich Antibodies for KALRN
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (KALRN), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (KALRN)
	Search Novus for antibodies for KALRN

Assays for KALRN:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry O60229

ProtoNet protein and cluster: O60229

3 Blocks protein families:

IPB000219 DH domain

IPB001849 Pleckstrin-like

IPB002017 Spectrin repeat

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229

Domain: The two GEF domains catalyze nucleotide exchange for RAC1 and RhoA which are bound by DH1

and DH2 respectively. The two GEF domains appear to play differing roles in neuronal development

and axonal outgrowth. SH3 1 binds to the first GEF domain inhibiting GEF activity only when in the

presence of a PXXP peptide, suggesting that the SH3 domain/peptide interaction mediates binding to

GEF1. CRK1 SH3 domain binds to and inhibits GEF1 activity (By similarity)

Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family

Similarity: Contains 1 CRAL-TRIO domain

Similarity: Contains 2 DH (DBL-homology) domains

Similarity: Contains 1 fibronectin type-III domain

Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain

Similarity: Contains 2 PH domains

Similarity: Contains 1 protein kinase domain

Similarity: Contains 2 SH3 domains

Similarity: Contains 5 spectrin repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KALRN)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KALRN)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001024660

Applied Biosystems Silencer® siRNAs for KALRN

Sigma-Aldrich siRNA and siRNA Panels for KALRN

Sigma-Aldrich shRNA Panels and shRNA for KALRN

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001024660
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001024660
untagged cDNA clones in CMV expression vector (see all 4): NM_001024660

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001024660

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229

Function: Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members,

thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and

plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of

its GEF activity

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme Number (IUBMB): EC 2.7.11.1

3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Kalrn):

behavior/neurological

nervous system

no phenotypic analysis

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004674	protein serine/threonine kinase activity	TAS	10023074
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	9285789
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for KALRN (Your Favorite Gene powered by Ingenuity)

Axonal Guidance Signaling
Ephrin Receptor Signaling

GeneDecks KALRN for the pathways selected above

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5/133 Interacting proteins for KALRN (ENSP00000353109³ O60229²) via UniProtKB, MINT, and/or STRING (see all 133 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COIL	P38432²	MINT-2865680 MINT-2865661
RHOG	ENSP00000339467³	STRING (score=.992)
CDGAP	ENSP00000264245³	STRING (score=.986)
EPHB2	ENSP00000363761³	STRING (score=.96)
CDC42P2	ENSP00000314458³	STRING (score=.945)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	TAS	10023074
GO:0007242	intracellular signaling cascade	ISS	--
GO:0007399	nervous system development	ISS	--
GO:0016192	vesicle-mediated transport	TAS	9285789
GO:0035023	regulation of Rho protein signal transduction	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KALRN

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KALRN)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KALRN)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001024660

Sigma-Aldrich siRNA and siRNA Panels for KALRN

Sigma-Aldrich shRNA Panels and shRNA for KALRN

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001024660 NM_003947 NM_007064

REFSEQ mRNAs for KALRN gene (3 alternative transcripts):

NM_001024660.2 NM_003947.3 NM_007064.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001024660 NM_003947 NM_007064

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001024660
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001024660
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001024660

Additional cDNA sequence:

AB011422.1 AK022394.1 AK123068.1 AK125979.1 AK128223.1 AK131379.1 AK296657.1 AK311154.1

AK311581.1 AK314126.1 AL137629.1 BC026865.1 BC037924.2 BC058015.1 CR605792.1 CR608638.1

U94190.1

24/28 DOTS entries (see all 28 ):

DT.312935 DT.111681 DT.100658812 DT.309621 DT.101970226 DT.75142475 DT.120902473 DT.100679684

DT.91743142 DT.101963343 DT.308858 DT.91939654 DT.120902528 DT.40276332 DT.120902464 DT.40131939

DT.86836071 DT.91856795 DT.95306053 DT.97841248 DT.120902639 DT.40256508 DT.91845228 DT.95107955

24/189 AceView cDNA sequences (see all 189 ):

AA235876 BX116065 AI024603 BX112817 BC026865 AK126954 AK131379 AA725523

BP362355 NM_003947 U94190 BU752505 AA682905 CA388966 BX503874 CR605792

AK128223 F10130 BC058015 BC037924 AI982639 AV726450 CR608638 BI831075

highest scoring ESTs for KALRN:

AB011422 U94190 AA027938 AA115265 AA350227 AA534580 AA780426 AI002000 AI125425 AI962617

Unigene Cluster for KALRN:

Kalirin, RhoGEF kinase

Hs.8004 [show with all ESTs]

Unigene Representative Sequence: NM_001024660

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for KALRN (see all 10 )

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^
SP1:							-		-		-		-								-		-		-
SP2:
SP3:
SP4:
SP5:							-		-		-		-

ExUns:	16	^	17a	·	17b	^	18a	·	18b	·	18c	^	19	^	20	^	21a	·	21b
SP1:
SP2:
SP3:
SP4:											-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for KALRN

7 Ensembl transcripts including schematic representations:

ENST00000291478 ENST00000354186 ENST00000393496 ENST00000393499 ENST00000240874 ENST00000393501

ENST00000360013

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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KALRN expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KALRN

¹ / ² / ³

18 probe-sets matching KALRN gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
60043_at²^{, 3}	U95-C	1	1.00	1.00	0.50	1.51	N63794	0.60	1.00	0.82	1
35406_at²^{, 3}	U95-A	1	1.00	1.00	0.78	0.42	AB011422	0.80	1.00	0.91	1
40655_at²^{, 3}	U95-A	1	1.00	1.00	0.76	0.56	U94190	0.80	1.00	0.91	1
75375_at²^{, 3}	U95-E	1	1.00	1.00	0.14	0.82	AI125425	0.60	1.00	0.82	1
87055_at²^{, 3}	U95-D	1	1.00	1.00	0.59	1.84	AA115265	0.60	1.00	0.82	1
64267_f_at²^{, 3}	U95-C	1	0.56	1.00	0.53	1.69	AI962617	0.60	1.00	0.82	1
55541_f_at²^{, 3}	U95-C	1	0.56	1.00	0.70	1.09	AA027938	0.60	1.00	0.82	1
43143_at²^{, 3}	U95-B	1	0.38	1.00	0.36	0.61	AI002000	0.60	1.00	0.82	1
206078_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_007064	0.40	1.00	0.76	1
236651_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI125425	0.60	1.00	0.82	1
227750_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AL137629	0.40	1.00	0.76	1
205635_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003947	0.60	1.00	0.82	1
232717_at*²^{, 3}	U133-B	1	1.00	1.00	--	--	AU147936	0.40	1.00	0.76	1
206078_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
236651_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227750_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205635_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
232717_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KALRN for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.8004
Expression variation in blood from EXPOLDB for KALRN
UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229
Tissue specificity: Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen,
amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform
4 is expressed in skeletal muscle

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for KALRN gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KALRN¹	--	kalirin, RhoGEF kinase	93.16(n) 98.65(a)	478592 XM_535768.2 XP_535768.2
chimpanzee (Pan troglodytes)	KALRN¹	--	kalirin, RhoGEF kinase	98.82(n) 99.02(a)	460643 XM_516703.2 XP_516703.2
rat (Rattus norvegicus)	Kalrn¹	--	kalirin, RhoGEF kinase	91(n) 98(a)	84009 NM_032062.1 NP_114451.1
mouse (Mus musculus)	Kalrn^{1, 5}	16⁵	kalirin, RhoGEF kinase^{1, 5}	90.9(n)¹ 98.02(a)¹	545156¹ XM_001481029.1¹ XP_001481079.1¹ AC155257⁵ AK033269⁵ (see all 27)
chicken (Gallus gallus)	KALRN¹	--	kalirin, RhoGEF kinase	82.15(n) 93.76(a)	424253 XM_001234054.1 XP_001234055.1

About this table Species with no ortholog for KALRN

ENSEMBL Gene Tree for KALRN

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for KALRN gene

TRIO² SLC26A10²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/4098 NCBI SNPs in KALRN are shown (see all 4098 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 1439)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs332514^1,2	A,C,F,H	125922257(+)	`GGCCAA/GTGCTG`	2	--	ut3¹ ese³		8	MN EA NA	2206
	rs6438848^1,2	A,C,F,H	125785291(+)	`agtgtG/Cgtcct`	2	--	int¹ ng5¹		3	EA WA	298
	rs4234221^1,2	A,C,F,H	125921019(+)	`CCCAGC/TCCCTA`	2	--	ut3¹ ese³		8	EU EA WA	838
	rs6765634^1,2	A,C,F,H	125720281(+)	`AGAGGC/TCCAAT`	2	--	ut3¹ int¹ ese³		4	EU EA WA	392
	rs10934657^1,2	A,C,F,H	125295526(+)	`AGGGGC/TTGAGA`	2	--	ng5¹		4	EU EA WA	416
	rs6809086^1,2	A,C,F,H	125785650(+)	`ctaagT/Gtcaaa`	2	--	ng5¹ int¹		4	EU EA WA	412
--	rs1162^1,2	A,C,F,H	125922375(+)	`TGTTCA/GTTTGT`	2	--	ut3¹		9	EU EA WA	802
	rs7613442^1,2	A,C,F,H	125720820(+)	`TTATAC/ACATTC`	2	--	ut3¹ int¹		16	EA NA EU WA	1456
	rs332513^1,2	A,C,F,H	125921817(+)	`AATTAT/ATCTGG`	2	--	ut3¹ ese³		12	MN EA EU WA NA	2652
	rs1875363^1,2	A,C,F,O	125785944(+)	`GTTGTA/TTTTTT`	2	--	ng5¹ int¹		4	MN NA EA	454

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HapMap Linkage Disequilibrium images for KALRN (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 604605

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229

Genetic variation in KALRN is associated with susceptibility to coronary heart disease

type 5 (CHDS5) [MIM:608901]. CHD is the leading cause of death and disability worldwide. CHD is

multifactorial disease with a strong genetic component. Classic epidemiologic studies have

revealed many risk factors for CHD, including age, sex, hypertension, dyslipidemia, diabetes

mellitus, smoking, and physical inactivity

Human Gene Mutation Database: KALRN

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/27 PubMed articles for KALRN gene (see all 27 ):

Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. (PubMed id 9285789)^{1, 2, 3, 4} Colomer V.... Ross C.A. (1997)
Duet is a novel serine/threonine kinase with Dbl-Homology (DH) and Pleckstrin-Homology (PH) domains. (PubMed id 10023074)^{1, 2, 3, 4} Kawai T....Akira S. (1999)
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (PubMed id 17357071)^{1, 3, 4} Wang L.... Vance J.M. (2007)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{3, 4} Beausoleil S.A.... Gygi S.P. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Kalirin-7 is an essential component of both shaft and spine excitatory synapses in hippocampal interneurons. (PubMed id 18199770)³ Ma X.M....Eipper B.A. (2008)
Phosphoproteome of resting human platelets. (PubMed id 18088087)⁴ Zahedi R.P.... Sickmann A. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)⁴ Dephoure N.... Gygi S.P. (2008)
Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)⁴ Greenman C.... Stratton M.R. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 8997	HGNC: 4814	AceView: HAPIPandTRAD	Ensembl:ENSG00000160145	euGenes: HUgn8997
ECgene: KALRN	H-InvDB: KALRN

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

Licensable Technologies for KALRN
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for KALRN:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for KALRN-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for KALRN		Antibodies for KALRN
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for KALRN		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (KALRN)
	Antibodies (KALRN)
	Chimera RNAi (KALRN)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (KALRN)
	Antibodies (KALRN)

Search OriGene for KALRN

Search Tocris compounds for KALRN

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for KALRN

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 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

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
KALRN Gene at Home site.
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KALRN Gene

protein-coding GIFtS: 54

Aliases &
Descriptions
for KALRN

Summaries
for KALRN

Genomic Location
for KALRN

Proteins
for KALRN

Protein Domains/
Families
for KALRN

Gene Function
for KALRN

Pathways & Interactions
for KALRN

Drugs & Compounds
for KALRN

Transcripts
for KALRN

Expression
for KALRN

Orthologs
for KALRN

Paralogs
for KALRN

SNPs/Variants
for KALRN

Disorders & Mutations
for KALRN

Medical News
for KALRN

Publications
for KALRN

Search for KALRN

Genome Databases showing KALRN

Other Databases showing KALRN

Specialized Databases showing KALRN

Licensable Technologies
for KALRN

Services
for KALRN

Gene Index: 3 5 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

KALRN Gene

protein-coding GIFtS: 54

Aliases & Descriptionsfor KALRN

Summariesfor KALRN

Genomic Locationfor KALRN

Proteinsfor KALRN

Protein Domains/Familiesfor KALRN

Gene Functionfor KALRN

Pathways & Interactionsfor KALRN

Drugs & Compoundsfor KALRN

Transcriptsfor KALRN

Expression for KALRN

Orthologsfor KALRN

Paralogsfor KALRN

SNPs/Variantsfor KALRN

Disorders & Mutationsfor KALRN

Medical Newsfor KALRN

Publicationsfor KALRN

Search for KALRN

Genome Databases showing KALRN

Other Databases showing KALRN

Specialized Databases showing KALRN

Licensable Technologiesfor KALRN

Servicesfor KALRN

Gene Index: 3 5 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

Aliases &
Descriptions
for KALRN

Summaries
for KALRN

Genomic Location
for KALRN

Proteins
for KALRN

Protein Domains/
Families
for KALRN

Gene Function
for KALRN

Pathways & Interactions
for KALRN

Drugs & Compounds
for KALRN

Transcripts
for KALRN

Expression
for KALRN

Orthologs
for KALRN

Paralogs
for KALRN

SNPs/Variants
for KALRN

Disorders & Mutations
for KALRN

Medical News
for KALRN

Publications
for KALRN

Licensable Technologies
for KALRN

Services
for KALRN