Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KALRN Gene

Aliases for KALRN Gene

  • Kalirin, RhoGEF Kinase 2 3
  • HAPIP 3 4 6
  • DUO 3 4 6
  • Serine/Threonine-Protein Kinase With Dbl- And Pleckstrin Homology Domain 3 4
  • Huntingtin-Associated Protein Interacting Protein (Duo) 2 3
  • EC 2.7.11.1 4 63
  • CHDS5 3 6
  • TRAD 3 4
  • DUET 3 4
  • Serine/Threonine Kinase With Dbl- And Pleckstrin Homology Domains 3
  • Serine/Threonine Kinase With Dbl And Pleckstrin Homology Domains 2
  • Huntingtin-Associated Protein-Interacting Protein 4
  • Protein Duo 4
  • ARHGEF24 3
  • Kalirin 3
  • CHD5 3

External Ids for KALRN Gene

Previous Symbols for KALRN Gene

  • HAPIP

Summaries for KALRN Gene

Entrez Gene Summary for KALRN Gene

  • 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, Jul 2008]

GeneCards Summary for KALRN Gene

KALRN (Kalirin, RhoGEF Kinase) is a Protein Coding gene. Diseases associated with KALRN include coronary heart disease 5. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include protein serine/threonine kinase activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

UniProtKB/Swiss-Prot for KALRN Gene

  • 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

Gene Wiki entry for KALRN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KALRN Gene

Genomics for KALRN Gene

Genomic Location for KALRN Gene

Start:
124,033,498 bp from pter
End:
124,726,325 bp from pter
Size:
692,828 bases
Orientation:
Plus strand

Genomic View for KALRN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KALRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KALRN Gene

Regulatory Elements for KALRN Gene

Proteins for KALRN Gene

  • Protein details for KALRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60229-KALRN_HUMAN
    Recommended name:
    Kalirin
    Protein Accession:
    O60229
    Secondary Accessions:
    • A8MSI4
    • C9JQ37
    • Q6ZN45
    • Q8TBQ5
    • Q9NSZ4
    • Q9Y2A5

    Protein attributes for KALRN Gene

    Size:
    2985 amino acids
    Molecular mass:
    D Da
    Quaternary structure:
    No Data Available

neXtProt entry for KALRN Gene

Proteomics data for KALRN Gene at MOPED

Post-translational modifications for KALRN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for KALRN Gene

Gene Families for KALRN Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Protein Domains for KALRN Gene

Suggested Antigen Peptide Sequences for KALRN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KALRN: view

No data available for UniProtKB/Swiss-Prot for KALRN Gene

Function for KALRN Gene

Molecular function for KALRN Gene

UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for KALRN Gene

Gene Ontology (GO) - Molecular Function for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005085 guanyl-nucleotide exchange factor activity EXP --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with KALRN: view
genes like me logo Genes that share phenotypes with KALRN: view

Animal Models for KALRN Gene

MGI Knock Outs for KALRN:

miRNA for KALRN Gene

miRTarBase miRNAs that target KALRN

No data available for Transcription Factor Targeting and HOMER Transcription for KALRN Gene

Localization for KALRN Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KALRN Gene COMPARTMENTS Subcellular localization image for KALRN gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton TAS 10023074
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with KALRN: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KALRN Gene

Pathways for KALRN Gene

genes like me logo Genes that share pathways with KALRN: view

Pathways by source for KALRN Gene

Gene Ontology (GO) - Biological Process for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 9285789
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007399 nervous system development ISS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with KALRN: view

Compounds for KALRN Gene

(2) HMDB Compounds for KALRN Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
Magnesium
  • Magnesium
7439-95-4
genes like me logo Genes that share compounds with KALRN: view

Transcripts for KALRN Gene

Unigene Clusters for KALRN Gene

Kalirin, RhoGEF kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KALRN Gene

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: - - - -
SP6: - - -
SP7:
SP8:
SP9: - - -
SP10:

ExUns: 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for KALRN Gene

GeneLoc Exon Structure for
KALRN
ECgene alternative splicing isoforms for
KALRN

Expression for KALRN Gene

mRNA expression in normal human tissues for KALRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KALRN Gene

This gene is overexpressed in Brain - Cortex (4.6), Brain - Frontal Cortex (BA9) (4.6), and Artery - Aorta (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KALRN Gene

SOURCE GeneReport for Unigene cluster for KALRN Gene Hs.8004

genes like me logo Genes that share expressions with KALRN: view

No data available for mRNA Expression by UniProt/SwissProt for KALRN Gene

Orthologs for KALRN Gene

This gene was present in the common ancestor of animals.

Orthologs for KALRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KALRN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KALRN 35
  • 93 (n)
  • 98.49 (a)
KALRN 36
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KALRN 35
  • 93.3 (n)
  • 98.76 (a)
KALRN 36
  • 39 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kalrn 35
  • 90.87 (n)
  • 98.02 (a)
Kalrn 16
Kalrn 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KALRN 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KALRN 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kalrn 35
  • 91.03 (n)
  • 98.02 (a)
chicken
(Gallus gallus)
Aves KALRN 35
  • 82.4 (n)
  • 94.16 (a)
KALRN 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KALRN 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kalrna 36
  • 43 (a)
OneToMany
kalrnb 36
  • 1 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trio 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 2 (a)
OneToMany
Species with no ortholog for KALRN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KALRN Gene

ENSEMBL:
Gene Tree for KALRN (if available)
TreeFam:
Gene Tree for KALRN (if available)

Paralogs for KALRN Gene

genes like me logo Genes that share paralogs with KALRN: view

Variants for KALRN Gene

Sequence variations from dbSNP and Humsavar for KALRN Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1162 -- 124,720,838(+) TGTTC(A/G)TTTGT utr-variant-3-prime
rs4028 -- 124,543,022(+) ctgtc(A/G)gcagg intron-variant
rs16847 -- 124,257,065(+) AGAGA(C/G)CCTGA intron-variant
rs106520 -- 124,657,806(+) CACGT(A/G)AGTGT intron-variant
rs151184 -- 124,718,452(+) CTGGG(C/T)TGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KALRN Gene

Variant ID Type Subtype PubMed ID
nsv460837 CNV Gain 19166990
nsv877397 CNV Gain 21882294
esv2725846 CNV Deletion 23290073
nsv829711 CNV Gain 17160897
nsv877398 CNV Loss 21882294
esv2725847 CNV Deletion 23290073
esv5483 CNV Gain 19470904
esv2660299 CNV Deletion 23128226
esv2533647 CNV Deletion 19546169
nsv3980 CNV Loss 18451855
nsv513069 CNV Loss 21212237
esv2725848 CNV Deletion 23290073
esv267747 CNV Insertion 20981092
nsv877399 CNV Loss 21882294
nsv877400 CNV Gain 21882294
nsv522662 CNV Loss 19592680
nsv522068 CNV Gain 19592680
esv2571462 CNV Deletion 19546169
esv2725849 CNV Deletion 23290073
nsv877401 CNV Gain 21882294
esv1481321 CNV Insertion 17803354
esv268012 CNV Insertion 20981092
esv273121 CNV Insertion 20981092
nsv877402 CNV Gain 21882294
nsv877403 CNV Loss 21882294

Relevant External Links for KALRN Gene

HapMap Linkage Disequilibrium report
KALRN
Human Gene Mutation Database (HGMD)
KALRN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KALRN Gene

Disorders for KALRN Gene

(1) OMIM Diseases for KALRN Gene (604605)

(1) MalaCards Diseases for KALRN Gene

Search for KALRN Gene in MalaCards »

Relevant External Links for KALRN

Genetic Association Database (GAD)
KALRN
Human Genome Epidemiology (HuGE) Navigator
KALRN
genes like me logo Genes that share disorders with KALRN: view

No data available for UniProtKB/Swiss-Prot for KALRN Gene

Publications for KALRN Gene

  1. Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. (PMID: 9285789) Colomer V. … Ross C.A. (Hum. Mol. Genet. 1997) 2 3 4 23
  2. Duet is a novel serine/threonine kinase with Dbl-homology (DH) and pleckstrin-homology (PH) domains. (PMID: 10023074) Kawai T. … Akira S. (Gene 1999) 2 3 4 23
  3. Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (PMID: 17357071) Wang L. … Vance J.M. (Am. J. Hum. Genet. 2007) 3 4 23
  4. Kalirin: a novel genetic risk factor for ischemic stroke. (PMID: 20107840) Krug T. … Oliveira S.A. (Hum. Genet. 2010) 3 23 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KALRN Gene

Sources for KALRN Gene

Back to Top

Content