1. Gene
  2. KALRN - kalirin RhoGEF kinase Gene

KALRN - kalirin RhoGEF kinase Gene

Homo sapiens

Also known as DUO; CHD5; DUET; TRAD; CHDS5; HAPIP; ARHGEF24

Gene ID: 8997 | Gene type: protein coding

About KALRN

Cytogenetic location: 3q21.1-q21.2 Genomic coordinates (GRCh38): 3:124,033,369-124,726,325 (from NCBI)

Broad expression in brain (RPKM 3.5), small intestine (RPKM 1.5) and 20 other tissues.

Summary

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]

KALRN Products(25)

mRNA Protein Name
NM_001024660.5 NP_001019831.2 kalirin isoform 1
NM_001322988.2 NP_001309917.1 kalirin isoform 4
NM_001322989.2 NP_001309918.1 kalirin isoform 5
NM_001322990.2 NP_001309919.1 kalirin isoform 6
NM_001322991.2 NP_001309920.1 kalirin isoform 7
NM_001322992.2 NP_001309921.1 kalirin isoform 8
NM_001322993.2 NP_001309922.1 kalirin isoform 9
NM_001322994.2 NP_001309923.1 kalirin isoform 10
NM_001322995.2 NP_001309924.1 kalirin isoform 11
NM_001322996.2 NP_001309925.1 kalirin isoform 12
NM_001322997.2 NP_001309926.1 kalirin isoform 13
NM_001322998.2 NP_001309927.1 kalirin isoform 14
NM_001322999.2 NP_001309928.1 kalirin isoform 15
NM_001323000.2 NP_001309929.1 kalirin isoform 16
NM_001323001.2 NP_001309930.1 kalirin isoform 17
NM_001388412.1 NP_001375341.1 kalirin isoform 18
NM_001388413.1 NP_001375342.1 kalirin isoform 19
NM_001388414.1 NP_001375343.1 kalirin isoform 20
NM_001388415.1 NP_001375344.1 kalirin isoform 21
NM_001388416.1 NP_001375345.1 kalirin isoform 22
NM_001388417.1 NP_001375346.1 kalirin isoform 23
NM_001388418.1 NP_001375347.1 kalirin isoform 24
NM_001388419.1 NP_001375348.1 kalirin isoform 25
NM_003947.6 NP_003938.1 kalirin isoform 2
NM_007064.5 NP_008995.2 kalirin isoform 3
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables guanyl-nucleotide exchange factor activity EXP
EXP: Inferred from Experiment
12546821 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23284848 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KALRN Protein Structure

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (45 - 181)

Spectrin

Spectrin: Spectrin repeat (312 - 414)

Spectrin

Spectrin: Spectrin repeat (540 - 640)

Spectrin

Spectrin: Spectrin repeat (891 - 998)

Spectrin

Spectrin: Spectrin repeat (1132 - 1226)

RhoGEF

RhoGEF: RhoGEF domain (1285 - 1455)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1663 a.a.
Protein Preferred Names Protein Names

kalirin

huntingtin-associated protein interacting protein (duo)

Related Diseases

Diseases Alias
Coronary Heart Disease 5

Coronary Heart Disease, Susceptibility To, 5

CHDS5

Coronary Artery Disease, Early-Onset

Coronary Artery Disease Early-Onset

Early-Onset Coronary Artery Disease

Heart, Coronary, Disease, Susceptibility To, Type 5

Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus KALRN MGD MGI:2685385
Felis catus KALRN VGNC VGNC:102762
Bos taurus KALRN VGNC VGNC:30389
Canis familiaris KALRN VGNC VGNC:42200
Macaca mulatta KALRN VGNC VGNC:84161
Rattus norvegicus KALRN RGD RGD:621865