• Gene id: 8997

Gene Summary

• Gene Symbol: KALRN   Gene   UCSC   Ensembl
• Aliases: ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, TRAD
• Gene name: kalirin RhoGEF kinase
• Alternate names: kalirin, huntingtin-associated protein interacting protein (duo), serine/threonine-protein kinase with Dbl- and pleckstrin homology domain,
• Gene location: 3q21.1-q21.2 (124033340: 124726324)     Exons: 66     NC_000003.12
• Gene summary(Entrez): 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 p
• OMIM: 604605

Protein Summary

• Protein general information: O60229  
  • Name: Kalirin (EC 2.7.11.1) (Huntingtin associated protein interacting protein) (Protein Duo) (Serine/threonine protein kinase with Dbl and pleckstrin homology domain)
  • Length: 2986  
  • Mass: 340261
  • 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. {ECO
• Sequence:

  MTDRFWDQWYLWYLRLLRLLDRGSFRNDGLKASDVLPILKEKVAFVSGGRDKRGGPILTFPARSNHDRIRQEDLR
  KLVTYLASVPSEDVCKRGFTVIIDMRGSKWDLIKPLLKTLQEAFPAEIHVALIIKPDNFWQKQKTNFGSSKFIFE
  TSMVSVEGLTKLVDPSQLTEEFDGSLDYNHEEWIELRLSLEEFFNSAVHLLSRLEDLQEMLARKEFPVDVEGSRR
  LIDEHTQLKKKVLKAPVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWH
  VRKLKLDQCFQLRLFEQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMNSMNAYVNINRIMSVA
  SRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAMSAVFHQKAEQFLSGVDAWCKMCSEGGLPSEMQDL
  ELAIHHHQTLYEQVTQAYTEVSQDGKALLDVLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIW
  QHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHDDFEEVAQNTYTNADKLLEA
  AEQLAQTGECDPEEIYKAARHLEVRIQDFVRRVEQRKLLLDMSVSFHTHTKELWTWMEDLQKEMLEDVCADSVDA
  VQELIKQFQQQQTATLDATLNVIKEGEDLIQQLRSAPPSLGEPSEARDSAVSNNKTPHSSSISHIESVLQQLDDA
  QVQMEELFHERKIKLDIFLQLRIFEQYTIEVTAELDAWNEDLLRQMNDFNTEDLTLAEQRLQRHTERKLAMNNMT
  FEVIQQGQDLHQYITEVQASGIELICEKDIDLAAQVQELLEFLHEKQHELELNAEQTHKRLEQCLQLRHLQAEVK
  QVLGWIRNGESMLNASLVNASSLSEAEQLQREHEQFQLAIESLFHATSLQKTHQSALQVQQKAEVLLQAGHYDAD
  AIRECAEKVALHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYRRDEDWCGGRDKLGPAAEIDHVIP
  LISKHLEQKEAFLKACTLARRNAEVFLKYIHRNNVSMPSVASHTRGPEQQVKAILSELLQRENRVLHFWTLKKRR
  LDQCQQYVVFERSAKQALDWIQETGEFYLSTHTSTGETTEETQELLKEYGEFRVPAKQTKEKVKLLIQLADSFVE
  KGHIHATEIRKWVTTVDKHYRDFSLRMGKYRYSLEKALGVNTEDNKDLELDIIPASLSDREVKLRDANHEVNEEK
  RKSARKKEFIMAELLQTEKAYVRDLHECLETYLWEMTSGVEEIPPGILNKEHIIFGNIQEIYDFHNNIFLKELEK
  YEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSNQLILEHAGTFFDEIQQRHGLANSISSYLIKPVQRITKYQLLL
  KELLTCCEEGKGELKDGLEVMLSVPKKANDAMHVSMLEGFDENLDVQGELILQDAFQVWDPKSLIRKGRERHLFL
  FEISLVFSKEIKDSSGHTKYVYKNKLLTSELGVTEHVEGDPCKFALWSGRTPSSDNKTVLKASNIETKQEWIKNI
  REVIQERIIHLKGALKEPLQLPKTPAKQRNNSKRDGVEDIDSQGDGSSQPDTISIASRTSQNTVDSDKLSGGCEL
  TVVLQDFSAGHSSELTIQVGQTVELLERPSERPGWCLVRTTERSPPLEGLVPSSALCISHSRSSVEMDCFFPLVK
  DAYSHSSSENGGKSESVANLQAQPSLNSIHSSPGPKRSTNTLKKWLTSPVRRLNSGKADGNIKKQKKVRDGRKSF
  DLGSPKPGDETTPQGDSADEKSKKGWGEDEPDEESHTPLPPPMKIFDNDPTQDEMSSSLLAARQASTEVPTAADL
  VNAIEKLVKNKLSLEGSSYRGSLKDPAGCLNEGMAPPTPPKNPEEEQKAKALRGRMFVLNELVQTEKDYVKDLGI
  VVEGFMKRIEEKGVPEDMRGKDKIVFGNIHQIYDWHKDFFLAELEKCIQEQDRLAQLFIKHERKLHIYVWYCQNK
  PRSEYIVAEYDAYFEEVKQEINQRLTLSDFLIKPIQRITKYQLLLKDFLRYSEKAGLECSDIEKAVELMCLVPKR
  CNDMMNLGRLQGFEGTLTAQGKLLQQDTFYVIELDAGMQSRTKERRVFLFEQIVIFSELLRKGSLTPGYMFKRSI
  KMNYLVLEENVDNDPCKFALMNRETSERVVLQAANADIQQAWVQDINQVLETQRDFLNALQSPIEYQRKERSTAV
  MRSQPARLPQASPRPYSSVPAGSEKPPKGSSYNPPLPPLKISTSNGSPGFEYHQPGDKFEASKQNDLGGCNGTSS
  MAVIKDYYALKENEICVSQGEVVQVLAVNQQNMCLVYQPASDHSPAAEGWVPGSILAPLTKATAAESSDGSIKKS
  CSWHTLRMRKRAEVENTGKNEATGPRKPKDILGNKVSVKETNSSEESECDDLDPNTSMEILNPNFIQEVAPEFLV
  PLVDVTCLLGDTVILQCKVCGRPKPTITWKGPDQNILDTDNSSATYTVSSCDSGEITLKICNLMPQDSGIYTCIA
  TNDHGTTSTSATVKVQGVPAAPNRPIAQERSCTSVILRWLPPSSTGNCTISGYTVEYREEGSQIWQQSVASTLDT
  YLVIEDLSPGCPYQFRVSASNPWGISLPSEPSEFVRLPEYDAAADGATISWKENFDSAYTELNEIGRGRFSIVKK
  CIHKATRKDVAVKFVSKKMKKKEQAAHEAALLQHLQHPQYITLHDTYESPTSYILILELMDDGRLLDYLMNHDEL
  MEEKVAFYIRDIMEALQYLHNCRVAHLDIKPENLLIDLRIPVPRVKLIDLEDAVQISGHFHIHHLLGNPEFAAPE
  VIQGIPVSLGTDIWSIGVLTYVMLSGVSPFLDESKEETCINVCRVDFSFPHEYFCGVSNAARDFINVILQEDFRR
  RPTAATCLQHPWLQPHNGSYSKIPLDTSRLACFIERRKHQNDVRPIPNVKSYIVNRVNQGT

• Structural information:
  • Protein Domains: (35..18-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056-)
    (1281..145-)
    (/note="DH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (1468..158-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR001251  IPR036865  IPR035899  IPR000219  IPR003961   IPR036116  IPR007110  IPR013783  IPR013098  IPR003599  IPR003598  IPR028569  IPR011009  IPR011993  IPR001849  IPR000719  IPR017441  IPR008271  IPR036028  IPR001452  IPR018159  IPR002017  
  • Prosite: PS50191 PS50010 PS50853 PS50835 PS50003 PS00107 PS50011 PS00108 PS50002
  • CDD: cd00063 cd00160 cd00170
  • PDB: 5QQD 5QQE 5QQF 5QQG 5QQH 5QQI 5QQJ 5QQK 5QQL 5QQM 5QQN
  • PDBsum: 5QQD 5QQE 5QQF 5QQG 5QQH 5QQI 5QQJ 5QQK 5QQL 5QQM 5QQN
  • STRING: ENSP00000240874
• Other Databases: GeneCards:  KALRN  Malacards:  KALRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007399	nervous system development	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0061003	positive regulation of dendritic spine morphogenesis	IEA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0060125	negative regulation of growth hormone secretion	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0046959	habituation	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Coronary artery disease	KEGG:H01742
Coronary artery disease	KEGG:H01742
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)