KALRN
Sign in to saveAlso known as ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, TRAD, kalirin, RhoGEF kinase
Kalirin, also known as Huntingtin-associated protein-interacting protein (HAPIP), protein duo (DUO), or serine/threonine-protein kinase with Dbl- and pleckstrin homology domain, is a protein that in humans is encoded by the KALRN gene. Kalirin was first identified in 1997 as a protein interacting with huntingtin-associated protein 1. Is also known to play an important role in nerve growth and axonal development.
Gene data
KALRN- Name
- kalirin RhoGEF kinase
- Type
- protein-coding
- Position
- 124,033,310–124,726,325 (+)
- Aliases
- ARHGEF24, CHDS5, DUET, DUO, HAPIP, KALNC2, TRAD
- Ensembl
- ENSG00000160145
- RefSeq RNA
- NM_001024660.5, NM_001322988.2, NM_001322989.2, NM_001322990.2, NM_001322991.2
- RefSeq protein
- NP_001019831.2, NP_001309917.1, NP_001309918.1, NP_001309919.1, NP_001309920.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
kalirin RhoGEF kinase
- Symbol
- KALRN
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:124,033,310-124,726,325
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 14 more facts
- HomoloGene ID
- 57160
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8997
- genomic end
- 124445172
- genomic start
- 124033369
- chromosome
- human chromosome 3
- cytogenetic location
- 3q21.1-q21.2
- genetic association
- intellectual disability
- expressed in
- dorsolateral prefrontal cortex
- gene substitution association with
- schizophrenia
- decreased expression in
- stroke
- increased expression in
- coronary artery disease
- altered regulation leads to
- addiction
- Commons category
- Kalirin
Sources (4)
via Wikidata · CC0
~8 min read
Encyclopedic overview
6 sectionsContents
- Clinical significance
- Function
- Expression
- Notes
- References
- External links
Kalirin, also known as Huntingtin-associated protein-interacting protein (HAPIP), protein duo (DUO), or serine/threonine-protein kinase with Dbl- and pleckstrin homology domain, is a protein that in humans is encoded by the KALRN gene. Kalirin was first identified in 1997 as a protein interacting with huntingtin-associated protein 1. Is also known to play an important role in nerve growth and axonal development.
Kalirin is a member of the Dbl family of proteins and is a Rho guanine nucleotide exchange factor.
Excerpted from Wikipedia’s “KALRN” article, available under the CC BY-SA 4.0 licence.