Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q0VF96

- CGNL1_HUMAN

UniProt

Q0VF96 - CGNL1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cingulin-like protein 1

Gene

CGNL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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 612-648.
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.
GeneTreeiENSGT00730000110843.
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

        10         20         30         40         50
MELYFGEYQH VQQEYGVHLR LASDDTQKSR SSQNSKAGSY GVSIRVQGID
60 70 80 90 100
GHPYIVLNNT ERCLAGTSFS ENGPPFPPPV INNLPLHSSN GSVPKENSEE
110 120 130 140 150
LQLPENPYAQ PSPIRNLKQP LLHEGKNGVL DRKDGSVKPS HLLNFQRHPE
160 170 180 190 200
LLQPYDPEKN ELNLQNHQPS ESNWLKTLTE EGINNKKPWT CFPKPSNSQP
210 220 230 240 250
TSPSLEDPAK SGVTAIRLCS SVVIEDPKKQ TSVCVNVQSC TKERVGEEAL
260 270 280 290 300
FTSGRPLTAH SPHAHPETKK TRPDVLPFRR QDSAGPVLDG ARSRRSSSSS
310 320 330 340 350
TTPTSANSLY RFLLDDQECA IHADNVNRHE NRRYIPFLPG TGRDIDTGSI
360 370 380 390 400
PGVDQLIEKF DQKPGLQRRG RSGKRNRINT DDRKRSRSVD SAFPFGLQGN
410 420 430 440 450
SEYLIEFSRN LGKSSEHLLR PSQVCPQRPL SQERRGKQSV GRTFAKLQGA
460 470 480 490 500
AHGASCAHSR PPQPNIDGKV LETEGSQEST VIRAPSLGAQ SKKEEEVKTA
510 520 530 540 550
TATLMLQNRA TATSPDSGAK KISVKTFPSA SNTQATPDLL KGQQELTQQT
560 570 580 590 600
NEETAKQILY NYLKEGSTDN DDATKRKVNL VFEKIQTLKS RAAGSAQGNN
610 620 630 640 650
QACNSTSEVK DLLEQKSKLT IEVAELQRQL QLEVKNQQNI KEERERMRAN
660 670 680 690 700
LEELRSQHNE KVEENSTLQQ RLEESEGELR KNLEELFQVK MEREQHQTEI
710 720 730 740 750
RDLQDQLSEM HDELDSAKRS EDREKGALIE ELLQAKQDLQ DLLIAKEEQE
760 770 780 790 800
DLLRKREREL TALKGALKEE VSSHDQEMDK LKEQYDAELQ ALRESVEEAT
810 820 830 840 850
KNVEVLASRS NTSEQDQAGT EMRVKLLQEE NEKLQGRSEE LERRVAQLQR
860 870 880 890 900
QIEDLKGDEA KAKETLKKYE GEIRQLEEAL VHARKEEKEA VSARRALENE
910 920 930 940 950
LEAAQGNLSQ TTQEQKQLSE KLKEESEQKE QLRRLKNEME NERWHLGKTI
960 970 980 990 1000
EKLQKEMADI VEASRTSTLE LQNQLDEYKE KNRRELAEMQ RQLKEKTLEA
1010 1020 1030 1040 1050
EKSRLTAMKM QDEMRLMEEE LRDYQRAQDE ALTKRQLLEQ TLKDLEYELE
1060 1070 1080 1090 1100
AKSHLKDDRS RLVKQMEDKV SQLEMELEEE RNNSDLLSER ISRSREQMEQ
1110 1120 1130 1140 1150
LRNELLQERA ARQDLECDKI SLERQNKDLK SRIIHLEGSY RSSKEGLVVQ
1160 1170 1180 1190 1200
MEARIAELED RLESEERDRA NLQLSNRRLE RKVKELVMQV DDEHLSLTDQ
1210 1220 1230 1240 1250
KDQLSLRLKA MKRQVEEAEE EIDRLESSKK KLQRELEEQM DMNEHLQGQL
1260 1270 1280 1290 1300
NSMKKDLRLK KLPSKVLDDM DDDDDLSTDG GSLYEAPVSY TFSKDSTVAS

QI
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.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 612-648.
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.
GeneTreei ENSGT00730000110843.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 66 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