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Aliases for KALRN Gene

Aliases for KALRN Gene

  • Kalirin, RhoGEF Kinase 2 3 5
  • 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
  • HAPIP 3 4
  • DUET 3 4
  • TRAD 3 4
  • DUO 3 4
  • Serine/Threonine Kinase With Dbl And Pleckstrin Homology Domains 2
  • Huntingtin-Associated Protein-Interacting Protein 4
  • Protein Duo 4
  • ARHGEF24 3
  • CHDS5 3
  • CHD5 3

External Ids for KALRN Gene

Previous HGNC Symbols for KALRN Gene

  • HAPIP

Previous GeneCards Identifiers for KALRN Gene

  • GC03P125297
  • GC03P123798
  • GC03P121187

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. [provided by RefSeq, Apr 2016]

GeneCards Summary for KALRN Gene

KALRN (Kalirin, RhoGEF Kinase) is a Protein Coding gene. Diseases associated with KALRN include coronary heart disease 5 and beriberi. Among its related pathways are EphB-EphrinB Signaling and Developmental Biology. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase 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. Induces lamellipodia independent of its GEF activity.

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

Regulatory Elements for KALRN Gene

Enhancers for KALRN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KALRN on UCSC Golden Path with GeneCards custom track

Genomic Location for KALRN Gene

Chromosome:
3
Start:
124,033,339 bp from pter
End:
124,726,325 bp from pter
Size:
692,987 bases
Orientation:
Plus strand

Genomic View for KALRN Gene

Genes around KALRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KALRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KALRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    340174 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with the C-terminal of peptidylglycine alpha-amidating monooxygenase (PAM) and with the huntingtin-associated protein 1 (HAP1) (By similarity). Interacts with FASLG.
    Miscellaneous:
    • Called DUO because the encoded protein is closely related to but shorter than TRIO.
    SequenceCaution:
    • Sequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KALRN Gene

neXtProt entry for KALRN Gene

Proteomics data for KALRN Gene at MOPED

Post-translational modifications for KALRN Gene

Antibody Products

Domains & Families for KALRN Gene

Suggested Antigen Peptide Sequences for KALRN Gene

Graphical View of Domain Structure for InterPro Entry

O60229

UniProtKB/Swiss-Prot:

KALRN_HUMAN :
  • 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).
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
  • Contains 9 spectrin repeats.
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).
  • Contains 1 CRAL-TRIO domain.
  • Contains 2 DH (DBL-homology) domains.
  • Contains 1 fibronectin type-III domain.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 2 PH domains.
  • Contains 1 protein kinase domain.
  • Contains 2 SH3 domains.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Similarity:
  • Contains 9 spectrin repeats.
genes like me logo Genes that share domains with KALRN: view

Function for KALRN Gene

Molecular function for KALRN Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
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. Induces lamellipodia independent of its GEF activity.

Enzyme Numbers (IUBMB) for KALRN Gene

Gene Ontology (GO) - Molecular Function for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for KALRN

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KALRN Gene

Localization for KALRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KALRN Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KALRN Gene COMPARTMENTS Subcellular localization image for KALRN gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for KALRN Gene

Pathways & Interactions 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:0007411 axon guidance TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA,TAS 9285789
GO:0048011 neurotrophin TRK receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with KALRN: view

No data available for SIGNOR curated interactions for KALRN Gene

Drugs & Compounds for KALRN Gene

(2) Drugs for KALRN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
Magnesium Nutra 0
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 (x4.6), Brain - Frontal Cortex (BA9) (x4.6), and Artery - Aorta (x4.3).

Protein differential expression in normal tissues from HIPED for KALRN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.5) and Platelet (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KALRN Gene



SOURCE GeneReport for Unigene cluster for KALRN Gene Hs.8004

mRNA Expression by UniProt/SwissProt for KALRN Gene

O60229-KALRN_HUMAN
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.
genes like me logo Genes that share expression patterns with KALRN: view

Protein tissue co-expression partners for KALRN Gene

Primer Products

In Situ Assay Products

Orthologs for KALRN Gene

This gene was present in the common ancestor of animals.

Orthologs for KALRN Gene

Organism Taxonomy Gene Similarity Type Details
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
rat
(Rattus norvegicus)
Mammalia Kalrn 35
  • 91.03 (n)
  • 98.02 (a)
oppossum
(Monodelphis domestica)
Mammalia KALRN 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KALRN 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KALRN 36
  • 100 (a)
OneToOne
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
rs2289838 - 124,462,586(+) AAAGA(G/T)CATAT reference, missense
VAR_035625 A breast cancer sample
VAR_035976 A colorectal cancer sample
VAR_041898 -
rs35298864 - 124,650,935(+) AGGCA(G/T)GATGT reference, missense

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

Variation tolerance for KALRN Gene

Residual Variation Intolerance Score: 0.223% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.61% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for KALRN Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coronary heart disease 5
  • coronary heart disease, susceptibility to, 5
beriberi
  • thiamine deficiency
keratomalacia
  • night blindness
laryngeal disease
  • laryngeal diseases
exanthem
  • exanthema
- elite association - COSMIC cancer census association via MalaCards
Search KALRN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KALRN_HUMAN
  • Coronary heart disease 5 (CHDS5) [MIM:608901]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. {ECO:0000269 PubMed:17357071}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for KALRN

Genetic Association Database (GAD)
KALRN
Human Genome Epidemiology (HuGE) Navigator
KALRN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KALRN
genes like me logo Genes that share disorders with KALRN: view

No data available for Genatlas 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 67
  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 23
  3. Kalirin: a novel genetic risk factor for ischemic stroke. (PMID: 20107840) Krug T. … Oliveira S.A. (Hum. Genet. 2010) 3 23
  4. 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 23
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for KALRN Gene

Sources for KALRN Gene

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