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Q8N4C6

- NIN_HUMAN

UniProt

Q8N4C6 - NIN_HUMAN

Protein

Ninein

Gene

NIN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 4 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi245 – 2528GTPSequence Analysis
    Nucleotide bindingi300 – 3045GTPSequence Analysis
    Nucleotide bindingi420 – 4234GTPSequence Analysis

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. GTP binding Source: UniProtKB-KW
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. centrosome localization Source: HGNC
    2. centrosome-templated microtubule nucleation Source: Ensembl
    3. microtubule anchoring at centrosome Source: Ensembl

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ninein
    Short name:
    hNinein
    Alternative name(s):
    Glycogen synthase kinase 3 beta-interacting protein
    Short name:
    GSK3B-interacting protein
    Gene namesi
    Name:NIN
    Synonyms:KIAA1565
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:14906. NIN.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 5 Publications
    Note: Component of the core centrosome. Arranged in a tubular conformation with an open and a closed end within the centrosome. In the mother centrosome, it localizes at both ends of the centrosome tube, including the site of centrosome duplication, while in the daughter centrosome it is present only at the closed end. Requires PCM1 for centrosome localization.

    GO - Cellular componenti

    1. centriole Source: Ensembl
    2. centrosome Source: UniProtKB
    3. microtubule Source: UniProtKB-KW
    4. nucleolus Source: HPA
    5. spindle pole Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Microtubule

    Pathology & Biotechi

    Involvement in diseasei

    Seckel syndrome 7 (SCKL7) [MIM:614851]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1222 – 12221Q → R in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 Publication
    Corresponds to variant rs187464517 [ dbSNP | Ensembl ].
    VAR_069083
    Natural varianti1709 – 17091N → S in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 Publication
    VAR_069084

    Keywords - Diseasei

    Disease mutation, Dwarfism, Mental retardation

    Organism-specific databases

    MIMi614851. phenotype.
    Orphaneti319675. Microcephalic primordial dwarfism, Dauber type.
    PharmGKBiPA31630.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20902090NineinPRO_0000096844Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1550 – 15501Phosphoserine3 Publications

    Post-translational modificationi

    Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B.3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8N4C6.
    PaxDbiQ8N4C6.
    PRIDEiQ8N4C6.

    PTM databases

    PhosphoSiteiQ8N4C6.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.2 Publications

    Developmental stagei

    In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase and reappears in telophase.1 Publication

    Gene expression databases

    ArrayExpressiQ8N4C6.
    BgeeiQ8N4C6.
    GenevestigatoriQ8N4C6.

    Organism-specific databases

    HPAiHPA005939.

    Interactioni

    Subunit structurei

    Homooligomer. Interacts with GSK3B/GSK3-beta via its C-terminal domain. Interacts with C14ORF166, such interaction may prevent its phosphorylation by GSK3B. Interacts with AUNIP (via N-terminus). Identified in a complex with AUNIP and AURKA.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    C14orf166Q9Y2244EBI-1164022,EBI-1104547
    GSK3BP498413EBI-1164022,EBI-373586

    Protein-protein interaction databases

    BioGridi119372. 8 interactions.
    IntActiQ8N4C6. 6 interactions.
    MINTiMINT-1175275.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N4C6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini8 – 4336EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini42 – 7736EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini182 – 21736EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini219 – 25234EF-hand 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini317 – 35236EF-hand 5PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili357 – 570214Sequence AnalysisAdd
    BLAST
    Coiled coili625 – 1027403Sequence AnalysisAdd
    BLAST
    Coiled coili1068 – 109932Sequence AnalysisAdd
    BLAST
    Coiled coili1181 – 1341161Sequence AnalysisAdd
    BLAST
    Coiled coili1441 – 1816376Sequence AnalysisAdd
    BLAST
    Coiled coili1854 – 188532Sequence AnalysisAdd
    BLAST
    Coiled coili1922 – 2067146Sequence AnalysisAdd
    BLAST

    Domaini

    The coiled coil region from Asn-1611 to Pro-1693 is necessary and sufficient for the targeting to centrosome.

    Sequence similaritiesi

    Contains 5 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG124644.
    HOGENOMiHOG000293170.
    HOVERGENiHBG052623.
    KOiK16476.
    OMAiAMMHDLQ.
    PhylomeDBiQ8N4C6.
    TreeFamiTF325139.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PfamiPF13405. EF-hand_6. 1 hit.
    [Graphical view]
    PROSITEiPS50222. EF_HAND_2. 5 hits.
    [Graphical view]

    Sequences (9)i

    Sequence statusi: Complete.

    This entry describes 9 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N4C6-1) [UniParc]FASTAAdd to Basket

    Also known as: Lm

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ     50
    QTLLQDNLLG RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR 100
    GGKRYGRRSL PEFQESVEEF PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ 150
    RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ DWIEEKLQEV CEDLGITRDG 200
    HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE DFFYGLFKNG 250
    KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD 300
    GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL 350
    LVTKNSIHQA ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM 400
    ASEVDDHHAA IERRNEYNLR KLDEEYKERI AALKNELRKE REQILQQAGK 450
    QRLELEQEIE KAKTEENYIR DRLALSLKEN SRLENELLEN AEKLAEYENL 500
    TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY ERQCRVLQDQ 550
    VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP 600
    LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA 650
    QENMKQRHEN ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE 700
    KKQLQVKLEE EKTHLQEKLR LQHEMELKAR LTQAQASFER EREGLQSSAW 750
    TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE KEELRKELLE KHQRELQEGR 800
    EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY RQELKDLQEQ 850
    QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT 900
    YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE 950
    REEVLCQAGA SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET 1000
    ADRERAEMST EISRLQSKIK EMQQATSPLS MLQSGCQVIG EEEVEGDGAL 1050
    SLLQQGEQLL EENGDVLLSL QRAHEQAVKE NVKMATEISR LQQRLQKLEP 1100
    GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR RHVLSDLEDD 1150
    EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI 1200
    SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL 1250
    LYEDVSREND CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV 1300
    TETFLSLEKS YDEVKIENEG LNVLVLRLQG KIEKLQESVV QRCDCCLWEA 1350
    SLENLEIEPD GNILQLNQTL EECVPRVRSV HHVIEECKQE NQYLEGNTQL 1400
    LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF QDKHFQHQAT 1450
    IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI 1500
    TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS 1550
    QEEMWQKTET VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN 1600
    SQNQEKLQEL NQRLTEMLCQ KEKEPGNSAL EEREQEKFNL KEELERCKVQ 1650
    SSTLVSSLEA ELSEVKIQTH IVQQENHLLK DELEKMKQLH RCPDLSDFQQ 1700
    KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI ATMKQEQKSW 1750
    EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK 1800
    QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ 1850
    LLWQENERLQ TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP 1900
    TEQEKLSLKR ECDQFQKEQS PANRKVSQMN SLEQELETIH LENEGLKKKQ 1950
    VKLDEQLMEM QHLRSTATPS PSPHAWDLQL LQQQACPMVP REQFLQLQRQ 2000
    LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM IEVEQKLKLV 2050
    KRLLQEKVNQ LKEQVSLPGH LCSPTSHSSF NSSFTSLYCH 2090
    Length:2,090
    Mass (Da):243,249
    Last modified:November 2, 2010 - v4
    Checksum:i51D27CD38A369209
    GO
    Isoform 2 (identifier: Q8N4C6-2) [UniParc]FASTAAdd to Basket

    Also known as: Isotype 3

    The sequence of this isoform differs from the canonical sequence as follows:
         492-508: Missing.

    Note: Dubious isoform produced through aberrant splice sites.

    Show »
    Length:2,073
    Mass (Da):241,191
    Checksum:i784E25AE5D1C68DE
    GO
    Isoform 3 (identifier: Q8N4C6-10) [UniParc]FASTAAdd to Basket

    Also known as: Isotype 2

    The sequence of this isoform differs from the canonical sequence as follows:
         492-508: Missing.
         2065-2090: VSLPGHLCSPTSHSSFNSSFTSLYCH → LCKNTKADAM...PLTSTPPLRS

    Note: Dubious isoform produced through aberrant splice sites.

    Show »
    Length:2,116
    Mass (Da):246,135
    Checksum:i0A9CEF8ECA2BF346
    GO
    Isoform 4 (identifier: Q8N4C6-4) [UniParc]FASTAAdd to Basket

    Also known as: Isotype 1

    The sequence of this isoform differs from the canonical sequence as follows:
         492-508: Missing.
         2027-2046: GNQEQLVTVMEERMIEVEQK → ALLPEQRAVHADSYRRIGHL
         2047-2090: Missing.

    Note: Dubious isoform produced through aberrant splice sites.

    Show »
    Length:2,029
    Mass (Da):236,135
    Checksum:iF994E939809252CB
    GO
    Isoform 5 (identifier: Q8N4C6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTD → MAEVTVPRVY...HRKIQHVKNE

    Show »
    Length:2,096
    Mass (Da):243,889
    Checksum:i32552AFD21D13A70
    GO
    Isoform 6 (identifier: Q8N4C6-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         800-1512: Missing.
         1555-1555: Missing.
         1960-1988: MQHLRSTATPSPSPHAWDLQLLQQQACPM → NSVVGSSREGCSSLPEIVCEDAAPEVHCDA
         1989-2090: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,275
    Mass (Da):147,799
    Checksum:iA34D34D74D9B861C
    GO
    Isoform 7 (identifier: Q8N4C6-7) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         2065-2090: VSLPGHLCSPTSHSSFNSSFTSLYCH → LCKNTKADAM...PLTSTPPLRS

    Note: No experimental confirmation available.

    Show »
    Length:2,133
    Mass (Da):248,194
    Checksum:i7B4B1C5A69FD4424
    GO
    Isoform 8 (identifier: Q8N4C6-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,052
    Mass (Da):238,941
    Checksum:i77E187FF00857A7D
    GO
    Isoform 9 (identifier: Q8N4C6-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         800-1512: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,377
    Mass (Da):160,136
    Checksum:i19AE5E3800593B03
    GO

    Sequence cautioni

    The sequence AAH65521.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAK00628.1 differs from that shown. Reason: Several sequencing errors.
    The sequence AAK00629.1 differs from that shown. Reason: Several sequencing errors and frameshifts.
    The sequence AAK00630.1 differs from that shown. Reason: Several sequencing errors.
    The sequence AAH65521.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB13391.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB15640.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti137 – 1371H → Y in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti137 – 1371H → Y in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti177 – 1771S → F in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti203 – 2031N → D in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti223 – 2231M → I in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti295 – 2951F → I in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti369 – 3691I → V in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti399 – 3991L → S in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti568 – 5681L → F in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti809 – 8091R → I in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti812 – 8121S → T in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti945 – 9451K → I in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti977 – 9771D → A in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti980 – 9801R → G in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti1054 – 10541Q → H in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti1067 – 10671L → F in AAG33512. (PubMed:11162463)Curated
    Sequence conflicti1070 – 10701L → Q in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti1150 – 11501D → G in AAF23015. (PubMed:11004522)Curated
    Sequence conflicti1237 – 12371M → I in AAF23015. (PubMed:11004522)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1111 – 11111P → A.
    Corresponds to variant rs2236316 [ dbSNP | Ensembl ].
    VAR_019453
    Natural varianti1125 – 11251Q → P.3 Publications
    Corresponds to variant rs12882191 [ dbSNP | Ensembl ].
    VAR_051235
    Natural varianti1222 – 12221Q → R in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 Publication
    Corresponds to variant rs187464517 [ dbSNP | Ensembl ].
    VAR_069083
    Natural varianti1320 – 13201G → E.4 Publications
    Corresponds to variant rs2073347 [ dbSNP | Ensembl ].
    VAR_019454
    Natural varianti1709 – 17091N → S in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 Publication
    VAR_069084
    Natural varianti1837 – 18371S → T.
    Corresponds to variant rs12717411 [ dbSNP | Ensembl ].
    VAR_019455
    Natural varianti1934 – 19341Q → E.
    Corresponds to variant rs2295847 [ dbSNP | Ensembl ].
    VAR_051236

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3838Missing in isoform 8. 1 PublicationVSP_040039Add
    BLAST
    Alternative sequencei1 – 3535MDEVE…EELTD → MAEVTVPRVYVVFGIHCIMA KASSDVQVSGFHRKIQHVKN E in isoform 5. 1 PublicationVSP_010950Add
    BLAST
    Alternative sequencei492 – 50817Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsVSP_010952Add
    BLAST
    Alternative sequencei800 – 1512713Missing in isoform 6 and isoform 9. 2 PublicationsVSP_010953Add
    BLAST
    Alternative sequencei1555 – 15551Missing in isoform 6. 1 PublicationVSP_010954
    Alternative sequencei1960 – 198829MQHLR…QACPM → NSVVGSSREGCSSLPEIVCE DAAPEVHCDA in isoform 6. 1 PublicationVSP_010955Add
    BLAST
    Alternative sequencei1989 – 2090102Missing in isoform 6. 1 PublicationVSP_010956Add
    BLAST
    Alternative sequencei2027 – 204620GNQEQ…EVEQK → ALLPEQRAVHADSYRRIGHL in isoform 4. 2 PublicationsVSP_010957Add
    BLAST
    Alternative sequencei2047 – 209044Missing in isoform 4. 2 PublicationsVSP_010958Add
    BLAST
    Alternative sequencei2065 – 209026VSLPG…SLYCH → LCKNTKADAMVKDLYVENAQ LLKALEVTEQRQKTAEKKNY LLEEKIASLSNIVRNLTPAP LTSTPPLRS in isoform 3 and isoform 7. 2 PublicationsVSP_010960Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF212162 mRNA. Translation: AAF23015.2.
    AF302773 mRNA. Translation: AAG33512.2.
    AF223937 mRNA. Translation: AAK00628.1. Sequence problems.
    AF223938 mRNA. Translation: AAK00629.1. Sequence problems.
    AF223939 mRNA. Translation: AAK00630.1. Sequence problems.
    AB046785 mRNA. Translation: BAB13391.2. Different initiation.
    AL133485 Genomic DNA. No translation available.
    AL606834 Genomic DNA. No translation available.
    BC034708 mRNA. Translation: AAH34708.2.
    BC065521 mRNA. Translation: AAH65521.1. Sequence problems.
    BC090932 mRNA. Translation: AAH90932.1.
    AY027794 mRNA. Translation: AAK27375.1.
    AY027795 mRNA. Translation: AAK27376.1.
    AY027796 mRNA. Translation: AAK27377.1.
    AF186776 mRNA. Translation: AAG17027.1.
    AK027054 mRNA. Translation: BAB15640.1. Different initiation.
    CCDSiCCDS32078.2. [Q8N4C6-11]
    CCDS32079.1. [Q8N4C6-1]
    RefSeqiNP_057434.4. NM_016350.4. [Q8N4C6-11]
    NP_065972.3. NM_020921.3.
    NP_891989.2. NM_182944.2.
    NP_891991.1. NM_182946.1.
    UniGeneiHs.310429.
    Hs.569387.

    Genome annotation databases

    EnsembliENST00000245441; ENSP00000245441; ENSG00000100503. [Q8N4C6-7]
    ENST00000382041; ENSP00000371472; ENSG00000100503. [Q8N4C6-1]
    ENST00000382043; ENSP00000371474; ENSG00000100503. [Q8N4C6-11]
    ENST00000530997; ENSP00000436092; ENSG00000100503. [Q8N4C6-7]
    GeneIDi51199.
    KEGGihsa:51199.
    UCSCiuc001wyi.3. human. [Q8N4C6-7]
    uc001wyk.3. human. [Q8N4C6-11]
    uc001wym.2. human. [Q8N4C6-1]

    Polymorphism databases

    DMDMi311033487.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF212162 mRNA. Translation: AAF23015.2 .
    AF302773 mRNA. Translation: AAG33512.2 .
    AF223937 mRNA. Translation: AAK00628.1 . Sequence problems.
    AF223938 mRNA. Translation: AAK00629.1 . Sequence problems.
    AF223939 mRNA. Translation: AAK00630.1 . Sequence problems.
    AB046785 mRNA. Translation: BAB13391.2 . Different initiation.
    AL133485 Genomic DNA. No translation available.
    AL606834 Genomic DNA. No translation available.
    BC034708 mRNA. Translation: AAH34708.2 .
    BC065521 mRNA. Translation: AAH65521.1 . Sequence problems.
    BC090932 mRNA. Translation: AAH90932.1 .
    AY027794 mRNA. Translation: AAK27375.1 .
    AY027795 mRNA. Translation: AAK27376.1 .
    AY027796 mRNA. Translation: AAK27377.1 .
    AF186776 mRNA. Translation: AAG17027.1 .
    AK027054 mRNA. Translation: BAB15640.1 . Different initiation.
    CCDSi CCDS32078.2. [Q8N4C6-11 ]
    CCDS32079.1. [Q8N4C6-1 ]
    RefSeqi NP_057434.4. NM_016350.4. [Q8N4C6-11 ]
    NP_065972.3. NM_020921.3.
    NP_891989.2. NM_182944.2.
    NP_891991.1. NM_182946.1.
    UniGenei Hs.310429.
    Hs.569387.

    3D structure databases

    ProteinModelPortali Q8N4C6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119372. 8 interactions.
    IntActi Q8N4C6. 6 interactions.
    MINTi MINT-1175275.

    Chemistry

    BindingDBi Q8N4C6.

    PTM databases

    PhosphoSitei Q8N4C6.

    Polymorphism databases

    DMDMi 311033487.

    Proteomic databases

    MaxQBi Q8N4C6.
    PaxDbi Q8N4C6.
    PRIDEi Q8N4C6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000245441 ; ENSP00000245441 ; ENSG00000100503 . [Q8N4C6-7 ]
    ENST00000382041 ; ENSP00000371472 ; ENSG00000100503 . [Q8N4C6-1 ]
    ENST00000382043 ; ENSP00000371474 ; ENSG00000100503 . [Q8N4C6-11 ]
    ENST00000530997 ; ENSP00000436092 ; ENSG00000100503 . [Q8N4C6-7 ]
    GeneIDi 51199.
    KEGGi hsa:51199.
    UCSCi uc001wyi.3. human. [Q8N4C6-7 ]
    uc001wyk.3. human. [Q8N4C6-11 ]
    uc001wym.2. human. [Q8N4C6-1 ]

    Organism-specific databases

    CTDi 51199.
    GeneCardsi GC14M051187.
    GeneReviewsi NIN.
    HGNCi HGNC:14906. NIN.
    HPAi HPA005939.
    MIMi 608684. gene.
    614851. phenotype.
    neXtProti NX_Q8N4C6.
    Orphaneti 319675. Microcephalic primordial dwarfism, Dauber type.
    PharmGKBi PA31630.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG124644.
    HOGENOMi HOG000293170.
    HOVERGENi HBG052623.
    KOi K16476.
    OMAi AMMHDLQ.
    PhylomeDBi Q8N4C6.
    TreeFami TF325139.

    Miscellaneous databases

    ChiTaRSi NIN. human.
    GeneWikii NIN_(gene).
    GenomeRNAii 51199.
    NextBioi 54220.
    PROi Q8N4C6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N4C6.
    Bgeei Q8N4C6.
    Genevestigatori Q8N4C6.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF13405. EF-hand_6. 1 hit.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta."
      Hong Y.-R., Chen C.-H., Chang J.-H., Wang S.-K., Sy W.-D., Chou C.-K., Howng S.-L.
      Biochim. Biophys. Acta 1492:513-516(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH GSK3B, VARIANTS PRO-1125 AND GLU-1320.
      Tissue: Fetal liver.
    2. "Genomic organization and molecular characterization of the human ninein gene."
      Hong Y.-R., Chen C.-H., Chuo M.-H., Liou S.-Y., Howng S.-L.
      Biochem. Biophys. Res. Commun. 279:989-995(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS PRO-1125 AND GLU-1320.
    3. "Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation."
      Stillwell E.E., Zhou J., Joshi H.C.
      Cell Cycle 3:923-930(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, VARIANTS PRO-1125 AND GLU-1320.
      Tissue: Thymus.
    4. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
      Tissue: Brain.
    5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    6. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-434 (ISOFORM 8), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1877-2090 (ISOFORM 4).
      Tissue: Lymph.
    8. "3' isoforms of human ninein."
      Choquette M.C., de Medicis E.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1561-2090 (ISOFORMS 1 AND 7).
      Tissue: Bone marrow.
    9. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1928-2090 (ISOFORM 7).
      Tissue: Hepatoma.
    10. "CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation."
      Ou Y.Y., Mack G.J., Zhang M., Rattner J.B.
      J. Cell Sci. 115:1825-1835(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    11. "Assembly of centrosomal proteins and microtubule organization depends on PCM-1."
      Dammermann A., Merdes A.
      J. Cell Biol. 159:255-266(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    12. "Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle."
      Chen C.-H., Howng S.-L., Cheng T.-S., Chou M.-H., Huang C.-Y., Hong Y.-R.
      Biochem. Biophys. Res. Commun. 308:975-983(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: HOMOOLIGOMERIZATION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, PHOSPHORYLATION.
    13. "A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors."
      Howng S.-L., Hsu H.-C., Cheng T.-S., Lee Y.-L., Chang L.-K., Lu P.-J., Hong Y.-R.
      FEBS Lett. 566:162-168(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH C14ORF166.
    14. "Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome."
      Mack G.J., Rees J., Sandblom O., Balczon R., Fritzler M.J., Rattner J.B.
      Arthritis Rheum. 41:551-558(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: AUTOANTIBODY.
    15. "Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia."
      Fritzler M.J., Zhang M., Stinton L.M., Rattner J.B.
      BMC Pediatr. 3:11-11(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: AUTOANTIBODY.
    16. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    17. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    18. "Functional characterization of AIBp, a novel Aurora-A binding protein in centrosome structure and spindle formation."
      Lieu A.S., Cheng T.S., Chou C.H., Wu C.H., Hsu C.Y., Huang C.Y., Chang L.K., Loh J.K., Chang C.S., Hsu C.M., Howng S.L., Hong Y.R.
      Int. J. Oncol. 37:429-436(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH AUNIP.
    19. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-1320.
    20. Cited for: VARIANTS SCKL7 ARG-1222 AND SER-1709.

    Entry informationi

    Entry nameiNIN_HUMAN
    AccessioniPrimary (citable) accession number: Q8N4C6
    Secondary accession number(s): A6NDB8
    , B7WPA3, C9JSB6, C9JSG2, C9JXL2, Q5BKU3, Q6P0P6, Q9BWU6, Q9C012, Q9C013, Q9C014, Q9H5I6, Q9HAT7, Q9HBY5, Q9HCK7, Q9UH61
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 116 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3