Q0VF96 (CGNL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cingulin-like protein 1

Alternative name(s):
Junction-associated coiled-coil protein
Paracingulin

Gene names

Name:	CGNL1
Synonyms:	JACOP, KIAA1749

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1302 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › tight 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 component	Cell junction Tight junction
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	myosin complex Inferred from electronic annotation. Source: InterPro tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	motor 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1302	1302	Cingulin-like protein 1		PRO_0000312875
Regions
	Region	1 – 554	554	Head
	Region	1263 – 1302	40	Tail
	Coiled coil	604 – 1258	655	Potential
	Motif	37 – 51	15	ZIM By similarity
	Compositional bias	296 – 300	5	Poly-Ser
	Compositional bias	1268 – 1275	8	Poly-Asp
Amino acid modifications
	Modified residue	283	1	Phosphoserine Ref.9
	Modified residue	297	1	Phosphoserine Ref.9
	Modified residue	298	1	Phosphoserine Ref.9
	Modified residue	388	1	Phosphoserine By similarity
	Modified residue	391	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 690	690	Missing in isoform 2.		VSP_029946
	Natural variant	380	1	T → P. Ref.1 Ref.3 Ref.4 Ref.5 Corresponds to variant rs1280395 [ dbSNP | Ensembl ].		VAR_037606
	Natural variant	459	1	S → F. Ref.5 Corresponds to variant rs7182648 [ dbSNP | Ensembl ].		VAR_037607
	Natural variant	511	1	T → A. Ref.1 Ref.3 Ref.4 Ref.5 Ref.9 Corresponds to variant rs1280396 [ dbSNP | Ensembl ].		VAR_037608
	Natural variant	1101	1	L → V. Ref.6 Corresponds to variant rs1620402 [ dbSNP | Ensembl ].		VAR_037609
	Natural variant	1270	1	M → V. Corresponds to variant rs16977594 [ dbSNP | Ensembl ].		VAR_037610
Experimental info
	Sequence conflict	239	1	S → G in AAT37906. Ref.1
	Sequence conflict	278	1	F → I in AAT37906. Ref.1
	Sequence conflict	305	1	S → P in AAT37906. Ref.1
	Sequence conflict	748 – 749	2	EQ → GR in AAT37906. Ref.1
	Sequence conflict	748 – 749	2	EQ → GR in BAB55415. Ref.3
	Sequence conflict	833	1	K → N in BAB71249. Ref.3
	Sequence conflict	869	1	Y → F in BAB71249. Ref.3
	Sequence conflict	883	1	A → V in BAB55415. Ref.3
	Sequence conflict	903	1	A → G in AAT37906. Ref.1
	Sequence conflict	1013	1	E → G in AAT37906. Ref.1
	Sequence conflict	1013	1	E → G in BAB55415. Ref.3
	Sequence conflict	1068	1	D → A in AAT37906. Ref.1
	Sequence conflict	1088	1	S → T in BAB55415. Ref.3
	Sequence conflict	1104	1	E → G in AAT37906. Ref.1
	Sequence conflict	1118	1	D → G in AAT37906. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 3, 2011. Version 2. Checksum: E41B55B5B50D2A28	FASTA	1,302	149,079
	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
	Isoform 2 [UniParc]. Checksum: 2178B7927A6F773D	FASTA	612	72,186
	10 20 30 40 50 60 MEREQHQTEI RDLQDQLSEM HDELDSAKRS EDREKGALIE ELLQAKQDLQ DLLIAKEEQE 70 80 90 100 110 120 DLLRKREREL TALKGALKEE VSSHDQEMDK LKEQYDAELQ ALRESVEEAT KNVEVLASRS 130 140 150 160 170 180 NTSEQDQAGT EMRVKLLQEE NEKLQGRSEE LERRVAQLQR QIEDLKGDEA KAKETLKKYE 190 200 210 220 230 240 GEIRQLEEAL VHARKEEKEA VSARRALENE LEAAQGNLSQ TTQEQKQLSE KLKEESEQKE 250 260 270 280 290 300 QLRRLKNEME NERWHLGKTI EKLQKEMADI VEASRTSTLE LQNQLDEYKE KNRRELAEMQ 310 320 330 340 350 360 RQLKEKTLEA EKSRLTAMKM QDEMRLMEEE LRDYQRAQDE ALTKRQLLEQ TLKDLEYELE 370 380 390 400 410 420 AKSHLKDDRS RLVKQMEDKV SQLEMELEEE RNNSDLLSER ISRSREQMEQ LRNELLQERA 430 440 450 460 470 480 ARQDLECDKI SLERQNKDLK SRIIHLEGSY RSSKEGLVVQ MEARIAELED RLESEERDRA 490 500 510 520 530 540 NLQLSNRRLE RKVKELVMQV DDEHLSLTDQ KDQLSLRLKA MKRQVEEAEE EIDRLESSKK 550 560 570 580 590 600 KLQRELEEQM DMNEHLQGQL NSMKKDLRLK KLPSKVLDDM DDDDDLSTDG GSLYEAPVSY 610 TFSKDSTVAS QI

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY.
+	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.
IPI	IPI00307829. IPI00877055.
RefSeq	NP_001239264.1. NM_001252335.1. NP_116255.2. NM_032866.4.
UniGene	Hs.148989. Hs.734541.
3D structure databases
ProteinModelPortal	Q0VF96.
SMR	Q0VF96. Positions 1201-1257.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q0VF96. 4 interactions.
STRING	9606.ENSP00000281282.
Polymorphism databases
DMDM	121947388.
Proteomic databases
PaxDb	Q0VF96.
PRIDE	Q0VF96.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000281282; ENSP00000281282; ENSG00000128849.
GeneID	84952.
KEGG	hsa:84952.
UCSC	uc002aeg.3. human.
Organism-specific databases
CTD	84952.
GeneCards	GC15P057668.
H-InvDB	HIX0012277.
HGNC	HGNC:25931. CGNL1.
HPA	CAB013500.
MIM	139300. phenotype. 607856. gene.
neXtProt	NX_Q0VF96.
PharmGKB	PA134972287.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOVERGEN	HBG107670.
InParanoid	Q0VF96.
OMA	VLNFQRH.
OrthoDB	EOG4Q84WW.
PhylomeDB	Q0VF96.
Gene expression databases
Bgee	Q0VF96.
CleanEx	HS_CGNL1.
Genevestigator	Q0VF96.
Family and domain databases
InterPro	IPR002928. Myosin_tail. [Graphical view]
Pfam	PF01576. Myosin_tail_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CGNL1. human.
GenomeRNAi	84952.
NextBio	75442.
SOURCE	Search...

Entry information

Entry name

CGNL1_HUMAN

Accession

Primary (citable) accession number: Q0VF96
Secondary accession number(s): Q05BZ4 , Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	May 3, 2011
Last modified:	May 1, 2013
This is version 56 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.