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Q0VF96 (CGNL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cingulin-like protein 1
Alternative name(s):
Junction-associated coiled-coil protein
Paracingulin
Gene names
Name:CGNL1
Synonyms:JACOP, KIAA1749
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1302 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Homodimer or oligomer By similarity.

Subcellular location

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

Tissue specificity

Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain. Ref.6

Domain

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

Involvement in disease

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.
Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration inv15(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. Ref.8

Sequence similarities

Belongs to the cingulin family.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCell junction
Tight junction
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmyosin complex

Inferred from electronic annotation. Source: InterPro

tight junction

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionmotor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q0VF96-1)

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.
Isoform 2 (identifier: Q0VF96-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13021302Cingulin-like protein 1
PRO_0000312875

Regions

Region1 – 554554Head
Region1263 – 130240Tail
Coiled coil604 – 1258655 Potential
Motif37 – 5115ZIM By similarity
Compositional bias296 – 3005Poly-Ser
Compositional bias1268 – 12758Poly-Asp

Amino acid modifications

Modified residue2831Phosphoserine Ref.9
Modified residue2971Phosphoserine Ref.9
Modified residue2981Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 690690Missing in isoform 2.
VSP_029946
Natural variant3801T → P. Ref.1 Ref.3 Ref.4 Ref.5
Corresponds to variant rs1280395 [ dbSNP | Ensembl ].
VAR_037606
Natural variant4591S → F. Ref.5
Corresponds to variant rs7182648 [ dbSNP | Ensembl ].
VAR_037607
Natural variant5111T → A. Ref.1 Ref.3 Ref.4 Ref.5 Ref.9
Corresponds to variant rs1280396 [ dbSNP | Ensembl ].
VAR_037608
Natural variant11011L → V. Ref.6
Corresponds to variant rs1620402 [ dbSNP | Ensembl ].
VAR_037609
Natural variant12701M → V.
Corresponds to variant rs16977594 [ dbSNP | Ensembl ].
VAR_037610

Experimental info

Sequence conflict2391S → G in AAT37906. Ref.1
Sequence conflict2781F → I in AAT37906. Ref.1
Sequence conflict3051S → P in AAT37906. Ref.1
Sequence conflict748 – 7492EQ → GR in AAT37906. Ref.1
Sequence conflict748 – 7492EQ → GR in BAB55415. Ref.3
Sequence conflict8331K → N in BAB71249. Ref.3
Sequence conflict8691Y → F in BAB71249. Ref.3
Sequence conflict8831A → V in BAB55415. Ref.3
Sequence conflict9031A → G in AAT37906. Ref.1
Sequence conflict10131E → G in AAT37906. Ref.1
Sequence conflict10131E → G in BAB55415. Ref.3
Sequence conflict10681D → A in AAT37906. Ref.1
Sequence conflict10881S → T in BAB55415. Ref.3
Sequence conflict11041E → G in AAT37906. Ref.1
Sequence conflict11181D → G in AAT37906. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 3, 2011. Version 2.
Checksum: E41B55B5B50D2A28

FASTA1,302149,079
        10         20         30         40         50         60 
MELYFGEYQH VQQEYGVHLR LASDDTQKSR SSQNSKAGSY GVSIRVQGID GHPYIVLNNT 

        70         80         90        100        110        120 
ERCLAGTSFS ENGPPFPPPV INNLPLHSSN GSVPKENSEE LQLPENPYAQ PSPIRNLKQP 

       130        140        150        160        170        180 
LLHEGKNGVL DRKDGSVKPS HLLNFQRHPE LLQPYDPEKN ELNLQNHQPS ESNWLKTLTE 

       190        200        210        220        230        240 
EGINNKKPWT CFPKPSNSQP TSPSLEDPAK SGVTAIRLCS SVVIEDPKKQ TSVCVNVQSC 

       250        260        270        280        290        300 
TKERVGEEAL FTSGRPLTAH SPHAHPETKK TRPDVLPFRR QDSAGPVLDG ARSRRSSSSS 

       310        320        330        340        350        360 
TTPTSANSLY RFLLDDQECA IHADNVNRHE NRRYIPFLPG TGRDIDTGSI PGVDQLIEKF 

       370        380        390        400        410        420 
DQKPGLQRRG RSGKRNRINT DDRKRSRSVD SAFPFGLQGN SEYLIEFSRN LGKSSEHLLR 

       430        440        450        460        470        480 
PSQVCPQRPL SQERRGKQSV GRTFAKLQGA AHGASCAHSR PPQPNIDGKV LETEGSQEST 

       490        500        510        520        530        540 
VIRAPSLGAQ SKKEEEVKTA TATLMLQNRA TATSPDSGAK KISVKTFPSA SNTQATPDLL 

       550        560        570        580        590        600 
KGQQELTQQT NEETAKQILY NYLKEGSTDN DDATKRKVNL VFEKIQTLKS RAAGSAQGNN 

       610        620        630        640        650        660 
QACNSTSEVK DLLEQKSKLT IEVAELQRQL QLEVKNQQNI KEERERMRAN LEELRSQHNE 

       670        680        690        700        710        720 
KVEENSTLQQ RLEESEGELR KNLEELFQVK MEREQHQTEI RDLQDQLSEM HDELDSAKRS 

       730        740        750        760        770        780 
EDREKGALIE ELLQAKQDLQ DLLIAKEEQE DLLRKREREL TALKGALKEE VSSHDQEMDK 

       790        800        810        820        830        840 
LKEQYDAELQ ALRESVEEAT KNVEVLASRS NTSEQDQAGT EMRVKLLQEE NEKLQGRSEE 

       850        860        870        880        890        900 
LERRVAQLQR QIEDLKGDEA KAKETLKKYE GEIRQLEEAL VHARKEEKEA VSARRALENE 

       910        920        930        940        950        960 
LEAAQGNLSQ TTQEQKQLSE KLKEESEQKE QLRRLKNEME NERWHLGKTI EKLQKEMADI 

       970        980        990       1000       1010       1020 
VEASRTSTLE LQNQLDEYKE KNRRELAEMQ RQLKEKTLEA EKSRLTAMKM QDEMRLMEEE 

      1030       1040       1050       1060       1070       1080 
LRDYQRAQDE ALTKRQLLEQ TLKDLEYELE AKSHLKDDRS RLVKQMEDKV SQLEMELEEE 

      1090       1100       1110       1120       1130       1140 
RNNSDLLSER ISRSREQMEQ LRNELLQERA ARQDLECDKI SLERQNKDLK SRIIHLEGSY 

      1150       1160       1170       1180       1190       1200 
RSSKEGLVVQ MEARIAELED RLESEERDRA NLQLSNRRLE RKVKELVMQV DDEHLSLTDQ 

      1210       1220       1230       1240       1250       1260 
KDQLSLRLKA MKRQVEEAEE EIDRLESSKK KLQRELEEQM DMNEHLQGQL NSMKKDLRLK 

      1270       1280       1290       1300 
KLPSKVLDDM DDDDDLSTDG GSLYEAPVSY TFSKDSTVAS QI 

« Hide

Isoform 2 [UniParc].

Checksum: 2178B7927A6F773D
Show »

FASTA61272,186

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10161.1. [Q0VF96-1]
RefSeqNP_001239264.1. NM_001252335.1. [Q0VF96-1]
NP_116255.2. NM_032866.4. [Q0VF96-1]
UniGeneHs.148989.
Hs.734541.

3D structure databases

ProteinModelPortalQ0VF96.
SMRQ0VF96. Positions 1201-1257.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124384. 6 interactions.
IntActQ0VF96. 5 interactions.
STRING9606.ENSP00000281282.

Polymorphism databases

DMDM332278171.

Proteomic databases

MaxQBQ0VF96.
PaxDbQ0VF96.
PRIDEQ0VF96.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281282; ENSP00000281282; ENSG00000128849. [Q0VF96-1]
GeneID84952.
KEGGhsa:84952.
UCSCuc002aeg.3. human. [Q0VF96-1]

Organism-specific databases

CTD84952.
GeneCardsGC15P057668.
H-InvDBHIX0012277.
HGNCHGNC:25931. CGNL1.
HPACAB013500.
HPA056911.
MIM139300. phenotype.
607856. gene.
neXtProtNX_Q0VF96.
PharmGKBPA134972287.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG107670.
InParanoidQ0VF96.
OMAQDEMRLM.
OrthoDBEOG7BP81S.
PhylomeDBQ0VF96.
TreeFamTF332247.

Gene expression databases

BgeeQ0VF96.
CleanExHS_CGNL1.
GenevestigatorQ0VF96.

Family and domain databases

InterProIPR002928. Myosin_tail.
[Graphical view]
PfamPF01576. Myosin_tail_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCGNL1. human.
GenomeRNAi84952.
NextBio75442.
PROQ0VF96.
SOURCESearch...

Entry information

Entry nameCGNL1_HUMAN
AccessionPrimary (citable) accession number: Q0VF96
Secondary accession number(s): Q05BZ4 expand/collapse secondary AC list , Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: May 3, 2011
Last modified: July 9, 2014
This is version 64 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM