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Q0ZGT2

- NEXN_HUMAN

UniProt

Q0ZGT2 - NEXN_HUMAN

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

Functioni

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.3 Publications

GO - Molecular functioni

  1. actin filament binding Source: UniProtKB
  2. calmodulin-dependent protein kinase activity Source: RefGenome
  3. structural constituent of muscle Source: UniProtKB

GO - Biological processi

  1. cardiac muscle fiber development Source: RefGenome
  2. protein phosphorylation Source: GOC
  3. regulation of cell migration Source: UniProtKB
  4. regulation of cytoskeleton organization Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Nexilin
Alternative name(s):
F-actin-binding protein
Nelin
Gene namesi
Name:NEXN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:29557. NEXN.

Subcellular locationi

Cytoplasmcytoskeleton By similarity. Cell junctionadherens junction By similarity. CytoplasmmyofibrilsarcomereZ line By similarity
Note: Localizes to the cell-matrix AJ. Not found at the cell-cell AJ By similarity.1 Publication

GO - Cellular componenti

  1. Z disc Source: UniProtKB
  2. cell-substrate adherens junction Source: Ensembl
  3. cytoskeleton Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti611 – 6111P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
VAR_063009
Natural varianti650 – 6501Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication
VAR_063010
Natural varianti652 – 6521Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
VAR_063011
Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 Publication
VAR_065477
Natural varianti279 – 2791R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 Publication
Corresponds to variant rs146245480 [ dbSNP | Ensembl ].
VAR_065478

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi613122. phenotype.
613876. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA134974801.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 675675Nexilin
PRO_0000302085Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei80 – 801Phosphoserine6 Publications
Modified residuei241 – 2411Phosphoserine1 Publication
Modified residuei357 – 3571Phosphoserine2 Publications
Modified residuei365 – 3651Phosphoserine2 Publications
Modified residuei370 – 3701Phosphothreonine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ0ZGT2.
PaxDbiQ0ZGT2.
PRIDEiQ0ZGT2.

PTM databases

PhosphoSiteiQ0ZGT2.

Expressioni

Tissue specificityi

Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines.3 Publications

Gene expression databases

ArrayExpressiQ0ZGT2.
BgeeiQ0ZGT2.
CleanExiHS_NEXN.
GenevestigatoriQ0ZGT2.

Organism-specific databases

HPAiHPA011185.

Interactioni

Subunit structurei

Interacts with F-actin.1 Publication

Protein-protein interaction databases

BioGridi124855. 8 interactions.
IntActiQ0ZGT2. 6 interactions.
MINTiMINT-8187852.

Structurei

3D structure databases

ProteinModelPortaliQ0ZGT2.
SMRiQ0ZGT2. Positions 563-672.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini582 – 67089Ig-like
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi43 – 575533Glu-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain

Phylogenomic databases

eggNOGiNOG147699.
HOVERGENiHBG066529.
InParanoidiQ0ZGT2.
OMAiNFHEEED.
OrthoDBiEOG7TBC1Z.
PhylomeDBiQ0ZGT2.
TreeFamiTF328960.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR020675. Myosin_light_ch_kinase-rel.
[Graphical view]
PANTHERiPTHR22964. PTHR22964. 1 hit.
PfamiPF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 12 Publications (identifier: Q0ZGT2-1) [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

MNDISQKAEI LLSSSKPVPK TYVPKLGKGD VKDKFEAMQR AREERNQRRS    50
RDEKQRRKEQ YIREREWNRR KQEIKEMLAS DDEEDVSSKV EKAYVPKLTG 100
TVKGRFAEME KQRQEEQRKR TEEERKRRIE QDMLEKRKIQ RELAKRAEQI 150
EDINNTGTES ASEEGDDSLL ITVVPVKSYK TSGKMKKNFE DLEKEREEKE 200
RIKYEEDKRI RYEEQRPSLK EAKCLSLVMD DEIESEAKKE SLSPGKLKLT 250
FEELERQRQE NRKKQAEEEA RKRLEEEKRA FEEARRQMVN EDEENQDTAK 300
IFKGYRPGKL KLSFEEMERQ RREDEKRKAE EEARRRIEEE KKAFAEARRN 350
MVVDDDSPEM YKTISQEFLT PGKLEINFEE LLKQKMEEEK RRTEEERKHK 400
LEMEKQEFEQ LRQEMGEEEE ENETFGLSRE YEELIKLKRS GSIQAKNLKS 450
KFEKIGQLSE KEIQKKIEEE RARRRAIDLE IKEREAENFH EEDDVDVRPA 500
RKSEAPFTHK VNMKARFEQM AKAREEEEQR RIEEQKLLRM QFEQREIDAA 550
LQKKREEEEE EEGSIMNGST AEDEEQTRSG APWFKKPLKN TSVVDSEPVR 600
FTVKVTGEPK PEITWWFEGE ILQDGEDYQY IERGETYCLY LPETFPEDGG 650
EYMCKAVNNK GSAASTCILT IESKN 675
Length:675
Mass (Da):80,658
Last modified:August 22, 2006 - v1
Checksum:i18D6336E62503E7F
GO
Isoform 21 Publication (identifier: Q0ZGT2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-163: Missing.
     673-675: SKN → TDDY

Note: No experimental confirmation available.

Show »
Length:662
Mass (Da):79,362
Checksum:iE91BF5E00A8016D4
GO
Isoform 31 Publication (identifier: Q0ZGT2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     237-298: Missing.

Note: No experimental confirmation available.

Show »
Length:613
Mass (Da):73,128
Checksum:i90EC363A14C50E7B
GO
Isoform 4 (identifier: Q0ZGT2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-72: Missing.

Note: No experimental confirmation available. Contains a phosphoserine at position 16.

Show »
Length:611
Mass (Da):72,732
Checksum:iD7A8A66A2BEF4255
GO

Sequence cautioni

The sequence AAH17827.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence AAH55084.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence AAH55084.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI11396.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI14445.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI14446.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB71622.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 Publication
VAR_065477
Natural varianti245 – 2451G → R.3 Publications
Corresponds to variant rs1166698 [ dbSNP | Ensembl ].
VAR_049963
Natural varianti279 – 2791R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 Publication
Corresponds to variant rs146245480 [ dbSNP | Ensembl ].
VAR_065478
Natural varianti335 – 3351R → K.
Corresponds to variant rs9660322 [ dbSNP | Ensembl ].
VAR_059414
Natural varianti611 – 6111P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
VAR_063009
Natural varianti650 – 6501Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication
VAR_063010
Natural varianti652 – 6521Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
VAR_063011

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei9 – 7264Missing in isoform 4.
VSP_043439Add
BLAST
Alternative sequencei150 – 16314Missing in isoform 2. 1 Publication
VSP_052541Add
BLAST
Alternative sequencei237 – 29862Missing in isoform 3. 1 Publication
VSP_052542Add
BLAST
Alternative sequencei673 – 6753SKN → TDDY in isoform 2. 1 Publication
VSP_052543

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti94 – 1018YVPKLTGT → NLPFTVP in AAD29607. 1 Publication
Sequence conflicti328 – 3281K → E in AAI14446. 1 Publication
Sequence conflicti429 – 4291R → K in AAD29607. 1 Publication
Sequence conflicti448 – 4481L → Q in AAH17827. 1 Publication
Sequence conflicti476 – 4761A → T in BAB71622. 1 Publication
Sequence conflicti637 – 6371Y → H in BAB71622. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ464902 mRNA. Translation: ABE97925.1.
AK057954 mRNA. Translation: BAB71622.1. Different initiation.
AK298565 mRNA. Translation: BAG60759.1.
AC096948 Genomic DNA. No translation available.
AC138392 Genomic DNA. No translation available.
BC055084 mRNA. Translation: AAH55084.1. Sequence problems.
BC017827 mRNA. Translation: AAH17827.1. Sequence problems.
BC111395 mRNA. Translation: AAI11396.1. Different initiation.
BC114444 mRNA. Translation: AAI14445.1. Different initiation.
BC114445 mRNA. Translation: AAI14446.1. Different initiation.
AF114264 mRNA. Translation: AAD29607.1.
S67069 mRNA. Translation: AAB28815.1.
CCDSiCCDS41351.1. [Q0ZGT2-1]
CCDS53335.1. [Q0ZGT2-4]
RefSeqiNP_001165780.1. NM_001172309.1. [Q0ZGT2-4]
NP_653174.3. NM_144573.3. [Q0ZGT2-1]
XP_005271380.1. XM_005271323.1. [Q0ZGT2-2]
UniGeneiHs.612385.

Genome annotation databases

EnsembliENST00000330010; ENSP00000327363; ENSG00000162614. [Q0ZGT2-4]
ENST00000334785; ENSP00000333938; ENSG00000162614. [Q0ZGT2-1]
ENST00000457030; ENSP00000388048; ENSG00000162614. [Q0ZGT2-2]
GeneIDi91624.
KEGGihsa:91624.
UCSCiuc001dia.3. human. [Q0ZGT2-2]
uc001dib.4. human. [Q0ZGT2-4]
uc001dic.4. human. [Q0ZGT2-1]

Polymorphism databases

DMDMi121945484.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ464902 mRNA. Translation: ABE97925.1 .
AK057954 mRNA. Translation: BAB71622.1 . Different initiation.
AK298565 mRNA. Translation: BAG60759.1 .
AC096948 Genomic DNA. No translation available.
AC138392 Genomic DNA. No translation available.
BC055084 mRNA. Translation: AAH55084.1 . Sequence problems.
BC017827 mRNA. Translation: AAH17827.1 . Sequence problems.
BC111395 mRNA. Translation: AAI11396.1 . Different initiation.
BC114444 mRNA. Translation: AAI14445.1 . Different initiation.
BC114445 mRNA. Translation: AAI14446.1 . Different initiation.
AF114264 mRNA. Translation: AAD29607.1 .
S67069 mRNA. Translation: AAB28815.1 .
CCDSi CCDS41351.1. [Q0ZGT2-1 ]
CCDS53335.1. [Q0ZGT2-4 ]
RefSeqi NP_001165780.1. NM_001172309.1. [Q0ZGT2-4 ]
NP_653174.3. NM_144573.3. [Q0ZGT2-1 ]
XP_005271380.1. XM_005271323.1. [Q0ZGT2-2 ]
UniGenei Hs.612385.

3D structure databases

ProteinModelPortali Q0ZGT2.
SMRi Q0ZGT2. Positions 563-672.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124855. 8 interactions.
IntActi Q0ZGT2. 6 interactions.
MINTi MINT-8187852.

PTM databases

PhosphoSitei Q0ZGT2.

Polymorphism databases

DMDMi 121945484.

Proteomic databases

MaxQBi Q0ZGT2.
PaxDbi Q0ZGT2.
PRIDEi Q0ZGT2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330010 ; ENSP00000327363 ; ENSG00000162614 . [Q0ZGT2-4 ]
ENST00000334785 ; ENSP00000333938 ; ENSG00000162614 . [Q0ZGT2-1 ]
ENST00000457030 ; ENSP00000388048 ; ENSG00000162614 . [Q0ZGT2-2 ]
GeneIDi 91624.
KEGGi hsa:91624.
UCSCi uc001dia.3. human. [Q0ZGT2-2 ]
uc001dib.4. human. [Q0ZGT2-4 ]
uc001dic.4. human. [Q0ZGT2-1 ]

Organism-specific databases

CTDi 91624.
GeneCardsi GC01P078354.
GeneReviewsi NEXN.
HGNCi HGNC:29557. NEXN.
HPAi HPA011185.
MIMi 613121. gene.
613122. phenotype.
613876. phenotype.
neXtProti NX_Q0ZGT2.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA134974801.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG147699.
HOVERGENi HBG066529.
InParanoidi Q0ZGT2.
OMAi NFHEEED.
OrthoDBi EOG7TBC1Z.
PhylomeDBi Q0ZGT2.
TreeFami TF328960.

Miscellaneous databases

GenomeRNAii 91624.
NextBioi 77345.
PROi Q0ZGT2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q0ZGT2.
Bgeei Q0ZGT2.
CleanExi HS_NEXN.
Genevestigatori Q0ZGT2.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR020675. Myosin_light_ch_kinase-rel.
[Graphical view ]
PANTHERi PTHR22964. PTHR22964. 1 hit.
Pfami PF07679. I-set. 1 hit.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
[Graphical view ]
PROSITEi PS50835. IG_LIKE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652, VARIANT ARG-245, CHARACTERIZATION OF VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652.
  2. "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 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-675 (ISOFORM 3).
    Tissue: Gastric mucosa.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-675 (ISOFORM 1), VARIANT ARG-245.
    Tissue: Skeletal muscle.
  5. "Molecular cloning of NELIN, a putative human cytoskeleton regulation gene."
    Zhao Y., Wei Y.-J., Cao H.-Q., Ding J.-F.
    Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 33:19-24(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 91-675 (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT ARG-245.
    Tissue: Heart.
  6. "Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics."
    Elisei R., Weightman D., Kendall-Taylor P., Vassart G., Ludgate M.
    J. Endocrinol. Invest. 16:533-540(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 108-454 (ISOFORM 1).
  7. "NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion."
    Wang W., Zhang W., Han Y., Chen J., Wang Y., Zhang Z., Hui R.
    Biochem. Biophys. Res. Commun. 330:1127-1131(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH F-ACTIN, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16 (ISOFORM 4), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
    Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
    J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-370, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80 AND SER-357, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16 (ISOFORM 4), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
    Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
    Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80; SER-241; SER-357 AND THR-370, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "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-80 AND SER-365, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy."
    Wang H., Li Z., Wang J., Sun K., Cui Q., Song L., Zou Y., Wang X., Liu X., Hui R., Fan Y.
    Am. J. Hum. Genet. 87:687-693(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH20 GLU-131 AND CYS-279, CHARACTERIZATION OF VARIANTS CMH20 GLU-131 AND CYS-279.

Entry informationi

Entry nameiNEXN_HUMAN
AccessioniPrimary (citable) accession number: Q0ZGT2
Secondary accession number(s): A0PJ84
, B4DPZ7, Q0D2H2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: August 22, 2006
Last modified: September 3, 2014
This is version 83 of the entry and version 1 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 1
    Human chromosome 1: 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

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