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Q0VF96

- CGNL1_HUMAN

UniProt

Q0VF96 - CGNL1_HUMAN

Protein

Cingulin-like protein 1

Gene

CGNL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 65 (01 Oct 2014)
      Sequence version 2 (03 May 2011)
      Previous versions | rss
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    Functioni

    May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.By similarity

    GO - Molecular functioni

    1. motor activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cingulin-like protein 1
    Alternative name(s):
    Junction-associated coiled-coil protein
    Paracingulin
    Gene namesi
    Name:CGNL1
    Synonyms:JACOP, KIAA1749
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:25931. CGNL1.

    Subcellular locationi

    Cell junctiontight junction By similarity
    Note: Localizes to the apical junction complex composed of tight and adherens junctions.By similarity

    GO - Cellular componenti

    1. myosin complex Source: InterPro
    2. tight junction Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.1 Publication
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration inv(15)(q21.2;q21.3) has been found in patients with aromatase excess syndrome. The inversion moves the promoter of the CGNL1 gene into a 5-prime position in relation to the aromatase coding region.

    Organism-specific databases

    MIMi139300. phenotype.
    PharmGKBiPA134972287.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13021302Cingulin-like protein 1PRO_0000312875Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei283 – 2831Phosphoserine1 Publication
    Modified residuei297 – 2971Phosphoserine1 Publication
    Modified residuei298 – 2981Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ0VF96.
    PaxDbiQ0VF96.
    PRIDEiQ0VF96.

    Expressioni

    Tissue specificityi

    Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain.1 Publication

    Gene expression databases

    BgeeiQ0VF96.
    CleanExiHS_CGNL1.
    GenevestigatoriQ0VF96.

    Organism-specific databases

    HPAiCAB013500.
    HPA056911.

    Interactioni

    Subunit structurei

    Homodimer or oligomer.By similarity

    Protein-protein interaction databases

    BioGridi124384. 6 interactions.
    IntActiQ0VF96. 5 interactions.
    STRINGi9606.ENSP00000281282.

    Structurei

    3D structure databases

    ProteinModelPortaliQ0VF96.
    SMRiQ0VF96. Positions 1201-1257.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 554554HeadAdd
    BLAST
    Regioni1263 – 130240TailAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili604 – 1258655Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi37 – 5115ZIMBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi296 – 3005Poly-Ser
    Compositional biasi1268 – 12758Poly-Asp

    Domaini

    The head region is responsible for junction-based distribution.By similarity

    Sequence similaritiesi

    Belongs to the cingulin family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG107670.
    InParanoidiQ0VF96.
    OMAiQDEMRLM.
    OrthoDBiEOG7BP81S.
    PhylomeDBiQ0VF96.
    TreeFamiTF332247.

    Family and domain databases

    InterProiIPR002928. Myosin_tail.
    [Graphical view]
    PfamiPF01576. Myosin_tail_1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q0VF96-1) [UniParc]FASTAAdd to Basket

    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

    MELYFGEYQH VQQEYGVHLR LASDDTQKSR SSQNSKAGSY GVSIRVQGID     50
    GHPYIVLNNT ERCLAGTSFS ENGPPFPPPV INNLPLHSSN GSVPKENSEE 100
    LQLPENPYAQ PSPIRNLKQP LLHEGKNGVL DRKDGSVKPS HLLNFQRHPE 150
    LLQPYDPEKN ELNLQNHQPS ESNWLKTLTE EGINNKKPWT CFPKPSNSQP 200
    TSPSLEDPAK SGVTAIRLCS SVVIEDPKKQ TSVCVNVQSC TKERVGEEAL 250
    FTSGRPLTAH SPHAHPETKK TRPDVLPFRR QDSAGPVLDG ARSRRSSSSS 300
    TTPTSANSLY RFLLDDQECA IHADNVNRHE NRRYIPFLPG TGRDIDTGSI 350
    PGVDQLIEKF DQKPGLQRRG RSGKRNRINT DDRKRSRSVD SAFPFGLQGN 400
    SEYLIEFSRN LGKSSEHLLR PSQVCPQRPL SQERRGKQSV GRTFAKLQGA 450
    AHGASCAHSR PPQPNIDGKV LETEGSQEST VIRAPSLGAQ SKKEEEVKTA 500
    TATLMLQNRA TATSPDSGAK KISVKTFPSA SNTQATPDLL KGQQELTQQT 550
    NEETAKQILY NYLKEGSTDN DDATKRKVNL VFEKIQTLKS RAAGSAQGNN 600
    QACNSTSEVK DLLEQKSKLT IEVAELQRQL QLEVKNQQNI KEERERMRAN 650
    LEELRSQHNE KVEENSTLQQ RLEESEGELR KNLEELFQVK MEREQHQTEI 700
    RDLQDQLSEM HDELDSAKRS EDREKGALIE ELLQAKQDLQ DLLIAKEEQE 750
    DLLRKREREL TALKGALKEE VSSHDQEMDK LKEQYDAELQ ALRESVEEAT 800
    KNVEVLASRS NTSEQDQAGT EMRVKLLQEE NEKLQGRSEE LERRVAQLQR 850
    QIEDLKGDEA KAKETLKKYE GEIRQLEEAL VHARKEEKEA VSARRALENE 900
    LEAAQGNLSQ TTQEQKQLSE KLKEESEQKE QLRRLKNEME NERWHLGKTI 950
    EKLQKEMADI VEASRTSTLE LQNQLDEYKE KNRRELAEMQ RQLKEKTLEA 1000
    EKSRLTAMKM QDEMRLMEEE LRDYQRAQDE ALTKRQLLEQ TLKDLEYELE 1050
    AKSHLKDDRS RLVKQMEDKV SQLEMELEEE RNNSDLLSER ISRSREQMEQ 1100
    LRNELLQERA ARQDLECDKI SLERQNKDLK SRIIHLEGSY RSSKEGLVVQ 1150
    MEARIAELED RLESEERDRA NLQLSNRRLE RKVKELVMQV DDEHLSLTDQ 1200
    KDQLSLRLKA MKRQVEEAEE EIDRLESSKK KLQRELEEQM DMNEHLQGQL 1250
    NSMKKDLRLK KLPSKVLDDM DDDDDLSTDG GSLYEAPVSY TFSKDSTVAS 1300
    QI 1302
    Length:1,302
    Mass (Da):149,079
    Last modified:May 3, 2011 - v2
    Checksum:iE41B55B5B50D2A28
    GO
    Isoform 2 (identifier: Q0VF96-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-690: Missing.

    Show »
    Length:612
    Mass (Da):72,186
    Checksum:i2178B7927A6F773D
    GO

    Sequence cautioni

    The sequence AAH30995.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti239 – 2391S → G in AAT37906. 1 PublicationCurated
    Sequence conflicti278 – 2781F → I in AAT37906. 1 PublicationCurated
    Sequence conflicti305 – 3051S → P in AAT37906. 1 PublicationCurated
    Sequence conflicti748 – 7492EQ → GR in AAT37906. 1 PublicationCurated
    Sequence conflicti748 – 7492EQ → GR in BAB55415. (PubMed:14702039)Curated
    Sequence conflicti833 – 8331K → N in BAB71249. (PubMed:14702039)Curated
    Sequence conflicti869 – 8691Y → F in BAB71249. (PubMed:14702039)Curated
    Sequence conflicti883 – 8831A → V in BAB55415. (PubMed:14702039)Curated
    Sequence conflicti903 – 9031A → G in AAT37906. 1 PublicationCurated
    Sequence conflicti1013 – 10131E → G in AAT37906. 1 PublicationCurated
    Sequence conflicti1013 – 10131E → G in BAB55415. (PubMed:14702039)Curated
    Sequence conflicti1068 – 10681D → A in AAT37906. 1 PublicationCurated
    Sequence conflicti1088 – 10881S → T in BAB55415. (PubMed:14702039)Curated
    Sequence conflicti1104 – 11041E → G in AAT37906. 1 PublicationCurated
    Sequence conflicti1118 – 11181D → G in AAT37906. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti380 – 3801T → P.4 Publications
    Corresponds to variant rs1280395 [ dbSNP | Ensembl ].
    VAR_037606
    Natural varianti459 – 4591S → F.1 Publication
    Corresponds to variant rs7182648 [ dbSNP | Ensembl ].
    VAR_037607
    Natural varianti511 – 5111T → A.5 Publications
    Corresponds to variant rs1280396 [ dbSNP | Ensembl ].
    VAR_037608
    Natural varianti1101 – 11011L → V.1 Publication
    Corresponds to variant rs1620402 [ dbSNP | Ensembl ].
    VAR_037609
    Natural varianti1270 – 12701M → V.
    Corresponds to variant rs16977594 [ dbSNP | Ensembl ].
    VAR_037610

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 690690Missing in isoform 2. 1 PublicationVSP_029946Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY610514 mRNA. Translation: AAT37906.1.
    AY274808 mRNA. Translation: AAP42073.1.
    AK027863 mRNA. Translation: BAB55415.1.
    AK056673 mRNA. Translation: BAB71249.1.
    CH471082 Genomic DNA. Translation: EAW77521.1.
    BC030995 mRNA. Translation: AAH30995.1. Sequence problems.
    BC093827 mRNA. Translation: AAH93827.1.
    BC112049 mRNA. Translation: AAI12050.1.
    BC118918 mRNA. Translation: AAI18919.1.
    AB051536 mRNA. Translation: BAB21840.2.
    CCDSiCCDS10161.1. [Q0VF96-1]
    RefSeqiNP_001239264.1. NM_001252335.1. [Q0VF96-1]
    NP_116255.2. NM_032866.4. [Q0VF96-1]
    UniGeneiHs.148989.
    Hs.734541.

    Genome annotation databases

    EnsembliENST00000281282; ENSP00000281282; ENSG00000128849. [Q0VF96-1]
    GeneIDi84952.
    KEGGihsa:84952.
    UCSCiuc002aeg.3. human. [Q0VF96-1]

    Polymorphism databases

    DMDMi332278171.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY610514 mRNA. Translation: AAT37906.1 .
    AY274808 mRNA. Translation: AAP42073.1 .
    AK027863 mRNA. Translation: BAB55415.1 .
    AK056673 mRNA. Translation: BAB71249.1 .
    CH471082 Genomic DNA. Translation: EAW77521.1 .
    BC030995 mRNA. Translation: AAH30995.1 . Sequence problems.
    BC093827 mRNA. Translation: AAH93827.1 .
    BC112049 mRNA. Translation: AAI12050.1 .
    BC118918 mRNA. Translation: AAI18919.1 .
    AB051536 mRNA. Translation: BAB21840.2 .
    CCDSi CCDS10161.1. [Q0VF96-1 ]
    RefSeqi NP_001239264.1. NM_001252335.1. [Q0VF96-1 ]
    NP_116255.2. NM_032866.4. [Q0VF96-1 ]
    UniGenei Hs.148989.
    Hs.734541.

    3D structure databases

    ProteinModelPortali Q0VF96.
    SMRi Q0VF96. Positions 1201-1257.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124384. 6 interactions.
    IntActi Q0VF96. 5 interactions.
    STRINGi 9606.ENSP00000281282.

    Polymorphism databases

    DMDMi 332278171.

    Proteomic databases

    MaxQBi Q0VF96.
    PaxDbi Q0VF96.
    PRIDEi Q0VF96.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000281282 ; ENSP00000281282 ; ENSG00000128849 . [Q0VF96-1 ]
    GeneIDi 84952.
    KEGGi hsa:84952.
    UCSCi uc002aeg.3. human. [Q0VF96-1 ]

    Organism-specific databases

    CTDi 84952.
    GeneCardsi GC15P057668.
    H-InvDB HIX0012277.
    HGNCi HGNC:25931. CGNL1.
    HPAi CAB013500.
    HPA056911.
    MIMi 139300. phenotype.
    607856. gene.
    neXtProti NX_Q0VF96.
    PharmGKBi PA134972287.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOVERGENi HBG107670.
    InParanoidi Q0VF96.
    OMAi QDEMRLM.
    OrthoDBi EOG7BP81S.
    PhylomeDBi Q0VF96.
    TreeFami TF332247.

    Miscellaneous databases

    ChiTaRSi CGNL1. human.
    GenomeRNAii 84952.
    NextBioi 75442.
    PROi Q0VF96.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q0VF96.
    CleanExi HS_CGNL1.
    Genevestigatori Q0VF96.

    Family and domain databases

    InterProi IPR002928. Myosin_tail.
    [Graphical view ]
    Pfami PF01576. Myosin_tail_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Citi S.
      Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PRO-380 AND ALA-511.
    2. Shan Y.X., Huang C.Q., Guo Z.K., Pan J., Gen D.C., Yu L.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-883 (ISOFORM 1), VARIANTS PRO-380 AND ALA-511.
      Tissue: Brain and Placenta.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS PRO-380 AND ALA-511.
    5. "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 1), VARIANTS PRO-380; PHE-459 AND ALA-511.
      Tissue: Colon and Kidney.
    6. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-1302 (ISOFORM 1), VARIANT VAL-1101, TISSUE SPECIFICITY.
      Tissue: Brain.
    7. Ohara O., Nagase T., Yamakawa H., Kikuno R.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    8. "Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene."
      Shozu M., Sebastian S., Takayama K., Hsu W.T., Schultz R.A., Neely K., Bryant M., Bulun S.E.
      N. Engl. J. Med. 348:1855-1865(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN AEXS.
    9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-283; SER-297 AND SER-298, VARIANT [LARGE SCALE ANALYSIS] ALA-511, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCGNL1_HUMAN
    AccessioniPrimary (citable) accession number: Q0VF96
    Secondary accession number(s): Q05BZ4
    , Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: May 3, 2011
    Last modified: October 1, 2014
    This is version 65 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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