• Gene id: 51199

Gene Summary

• Gene Symbol: NIN   Gene   UCSC   Ensembl
• Aliases: SCKL7
• Gene name: ninein
• Alternate names: ninein, glycogen synthase kinase 3 beta-interacting protein, hNinein, ninein (GSK3B interacting protein), ninein centrosomal protein,
• Gene location: 14q22.1 (50831139: 50719762)     Exons: 35     NC_000014.9
• Gene summary(Entrez): This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zipper
• OMIM: 608684

Protein Summary

• Protein general information: Q8N4C6  
  • Name: Ninein (hNinein) (Glycogen synthase kinase 3 beta interacting protein) (GSK3B interacting protein)
  • Length: 2090  
  • Mass: 243249
  • Tissue specificity: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5. {ECO
• Sequence:

  MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEALILIL
  SRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQ
  RSEEYEAEGQLRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLE
  EVFHNLDPDGTMSVEDFFYGLFKNGKSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDD
  GMGHASVERILDTWQEEGIENSQEILKALDFSLDGNINLTELTLALENELLVTKNSIHQAALASFKAEIRHLLER
  VDQVVREKEKLRSDLDKAEKLKSLMASEVDDHHAAIERRNEYNLRKLDEEYKERIAALKNELRKEREQILQQAGK
  QRLELEQEIEKAKTEENYIRDRLALSLKENSRLENELLENAEKLAEYENLTNKLQRNLENVLAEKFGDLDPSSAE
  FFLQEERLTQMRNEYERQCRVLQDQVDELQSELEEYRAQGRVLRLPLKNSPSEEVEANSGGIEPEHGLGSEECNP
  LNMSIEAELVIEQMKEQHHRDICCLRLELEDKVRHYEKQLDETVVSCKKAQENMKQRHENETHTLEKQISDLKNE
  IAELQGQAAVLKEAHHEATCRHEEEKKQLQVKLEEEKTHLQEKLRLQHEMELKARLTQAQASFEREREGLQSSAW
  TEEKVRGLTQELEQFHQEQLTSLVEKHTLEKEELRKELLEKHQRELQEGREKMETECNRRTSQIEAQFQSDCQKV
  TERCESALQSLEGRYRQELKDLQEQQREEKSQWEFEKDELTQECAEAQELLKETLKREKTTSLVLTQEREMLEKT
  YKEHLNSMVVERQQLLQDLEDLRNVSETQQSLLSDQILELKSSHKRELREREEVLCQAGASEQLASQRLERLEME
  HDQERQEMMSKLLAMENIHKATCETADRERAEMSTEISRLQSKIKEMQQATSPLSMLQSGCQVIGEEEVEGDGAL
  SLLQQGEQLLEENGDVLLSLQRAHEQAVKENVKMATEISRLQQRLQKLEPGLVMSSCLDEPATEFFGNTAEQTEQ
  FLQQNRTKQVEGVTRRHVLSDLEDDEVRDLGSTGTSSVQRQEVKIEESEASVEGFSELENSEETRTESWELKNQI
  SQLQEQLMMLCADCDRASEKKQDLLFDVSVLKKKLKMLERIPEASPKYKLLYEDVSRENDCLQEELRMMETRYDE
  ALENNKELTAEVFRLQDELKKMEEVTETFLSLEKSYDEVKIENEGLNVLVLRLQGKIEKLQESVVQRCDCCLWEA
  SLENLEIEPDGNILQLNQTLEECVPRVRSVHHVIEECKQENQYLEGNTQLLEKVKAHEIAWLHGTIQTHQERPRV
  QNQVILEENTTLLGFQDKHFQHQATIAELELEKTKLQELTRKLKERVTILVKQKDVLSHGEKEEELKAMMHDLQI
  TCSEMQQKVELLRYESEKLQQENSILRNEITTLNEEDSISNLKLGTLNGSQEEMWQKTETVKQENAAVQKMVENL
  KKQISELKIKNQQLDLENTELSQKNSQNQEKLQELNQRLTEMLCQKEKEPGNSALEEREQEKFNLKEELERCKVQ
  SSTLVSSLEAELSEVKIQTHIVQQENHLLKDELEKMKQLHRCPDLSDFQQKISSVLSYNEKLLKEKEALSEELNS
  CVDKLAKSSLLEHRIATMKQEQKSWEHQSASLKSQLVASQEKVQNLEDTVQNVNLQMSRMKSDLRVTQQEKEALK
  QEVMSLHKQLQNAGGKSWAPEIATHPSGLHNQQKRLSWDKLDHLMNEEQQLLWQENERLQTMVQNTKAELTHSRE
  KVRQLESNLLPKHQKHLNPSGTMNPTEQEKLSLKRECDQFQKEQSPANRKVSQMNSLEQELETIHLENEGLKKKQ
  VKLDEQLMEMQHLRSTATPSPSPHAWDLQLLQQQACPMVPREQFLQLQRQLLQAERINQHLQEELENRTSETNTP
  QGNQEQLVTVMEERMIEVEQKLKLVKRLLQEKVNQLKEQVSLPGHLCSPTSHSSFNSSFTSLYCH

• Structural information:
  • Protein Domains: (8..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (42..7-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (182..21-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR002048  IPR029664  
  • Prosite: PS50222
  • STRING: ENSP00000371472
• Other Databases: GeneCards:  NIN  Malacards:  NIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051642	centrosome localization	TAS	biological process
GO:0051642	centrosome localization	IBA	biological process
GO:0005814	centriole	IBA	cellular component
GO:0097539	ciliary transition fiber	IBA	cellular component
GO:0097431	mitotic spindle pole	IBA	cellular component
GO:0090222	centrosome-templated microtubule nucleation	IBA	biological process
GO:0034454	microtubule anchoring at centrosome	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0000242	pericentriolar material	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0034454	microtubule anchoring at centrosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0034454	microtubule anchoring at centrosome	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000242	pericentriolar material	IDA	cellular component
GO:0000922	spindle pole	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0019900	kinase binding	IEA	molecular function
GO:0021540	corpus callosum morphogenesis	IEA	biological process
GO:0036449	microtubule minus-end	IEA	cellular component
GO:0048668	collateral sprouting	IEA	biological process
GO:0051642	centrosome localization	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0021957	corticospinal tract morphogenesis	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031116	positive regulation of microtubule polymerization	IEA	biological process
GO:0034454	microtubule anchoring at centrosome	IEA	biological process
GO:0044295	axonal growth cone	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0090222	centrosome-templated microtubule nucleation	IEA	biological process
GO:0097431	mitotic spindle pole	IEA	cellular component
GO:0097539	ciliary transition fiber	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0008104	protein localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IDA	cellular component
GO:0008104	protein localization	IMP	biological process
GO:0008104	protein localization	IMP	biological process
GO:0120103	centriolar subdistal appendage	IDA	cellular component
GO:0010457	centriole-centriole cohesion	IMP	biological process

Diseases

Associated diseases	References
Seckel syndrome	KEGG:H00992
Seckel syndrome	KEGG:H00992
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray