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Q9H7C4

- SYNCI_HUMAN

UniProt

Q9H7C4 - SYNCI_HUMAN

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Protein

Syncoilin

Gene
SYNC, SYNC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. structural molecule activity Source: InterPro

GO - Biological processi

  1. intermediate filament-based process Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Syncoilin
Alternative name(s):
Syncoilin intermediate filament 1
Syncoilin-1
Gene namesi
Name:SYNC
Synonyms:SYNC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28897. SYNC.

Subcellular locationi

Cytoplasmperinuclear region By similarity
Note: In skeletal muscle, colocalizes with DES and DTNA, and is localized at the myotendinous and neuromuscular junctions, sarcolemma and Z-lines. In myotubes, detected in a punctate cytoplasmic pattern By similarity.By similarity

GO - Cellular componenti

  1. cytosol Source: Ensembl
  2. intermediate filament Source: UniProtKB-KW
  3. neuromuscular junction Source: Ensembl
  4. perinuclear region of cytoplasm Source: UniProtKB-SubCell
  5. sarcolemma Source: Ensembl
  6. Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164726395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 482482SyncoilinPRO_0000306180Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei325 – 3251Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H7C4.
PaxDbiQ9H7C4.
PRIDEiQ9H7C4.

PTM databases

PhosphoSiteiQ9H7C4.

Expressioni

Inductioni

Up-regulated at the sarcolemma in individuals with various forms of neuromuscular disease.1 Publication

Gene expression databases

ArrayExpressiQ9H7C4.
BgeeiQ9H7C4.
CleanExiHS_SYNC.
GenevestigatoriQ9H7C4.

Organism-specific databases

HPAiHPA028311.

Interactioni

Subunit structurei

Interacts with DES and DTNA By similarity.By similarity

Protein-protein interaction databases

BioGridi123502. 1 interaction.
STRINGi9606.ENSP00000386439.

Structurei

3D structure databases

ProteinModelPortaliQ9H7C4.
SMRiQ9H7C4. Positions 169-293, 317-458.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 161161HeadAdd
BLAST
Regioni162 – 1698Rod
Regioni170 – 20435Coil 1AAdd
BLAST
Regioni205 – 23127Linker 1Add
BLAST
Regioni232 – 30978Coil 1bAdd
BLAST
Regioni310 – 34940Linker 2Add
BLAST
Regioni350 – 458109Coil 2Add
BLAST
Regioni459 – 48224TailAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG79532.
HOGENOMiHOG000010275.
HOVERGENiHBG108528.
InParanoidiQ9H7C4.
KOiK10377.
OMAiECVAYQY.
OrthoDBiEOG7MH102.
PhylomeDBiQ9H7C4.

Family and domain databases

InterProiIPR001664. IF.
IPR027702. Syncoilin.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF100. PTHR23239:SF100. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H7C4-1) [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

MASPEPRRGG DGAAQAARKT RVEANSPLPK NSGSLNEAEA LNPEVTLSSE    50
GSLNLEDILY LEDTGDLDET LYVQETEKAE EALYIEEAMQ PDEALHVEEP 100
GNPEETVCVE ETTEPDRIQF VEGPVEPGKP TSPEHVVYEG ETVTRAEKSN 150
PEESLRAEQS PSMEENLSIE DLELLEGRFQ QCVQAVAQLE EERDQLIHEL 200
VLLREPALQE VQQVHQDILA AYKLHAQAEL ERDGLREEIR LVKQKLFKVT 250
KECVAYQYQL ECRQQDVAQF ADFREVLTTR ATQLSEELAQ LRDAYQKQKE 300
QLRQQLEAPP SQRDGHFLQE SRRLSAQFEN LMAESRQDLE EEYEPQFLRL 350
LERKEAGTKA LQRTQAEIQE MKEALRPLQA EARQLRLQNR NLEDQIALVR 400
QKRDEEVQQY REQLEEMEER QRQLRNGVQL QQQKNKEMEQ LRLSLAEELS 450
TYKAMLLPKS LEQADAPTSQ AGGMETQSQG AV 482
Length:482
Mass (Da):55,299
Last modified:July 13, 2010 - v3
Checksum:i969F2DA9C48C858B
GO
Isoform 2 (identifier: Q9H7C4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     454-482: AMLLPKSLEQADAPTSQAGGMETQSQGAV → GCLEIYGQICNPETAKNFLAKDH

Show »
Length:476
Mass (Da):54,947
Checksum:i2B3ADA20445CCE58
GO

Sequence cautioni

The sequence AAI19701.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI19702.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB14970.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei454 – 48229AMLLP…SQGAV → GCLEIYGQICNPETAKNFLA KDH in isoform 2. VSP_039404Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 581I → T in BAG60270. 1 Publication
Sequence conflicti163 – 1631M → V in BAG63620. 1 Publication
Sequence conflicti163 – 1631M → V in BAG60270. 1 Publication
Sequence conflicti274 – 2741R → Q in BAG63620. 1 Publication
Sequence conflicti274 – 2741R → Q in BAG60270. 1 Publication
Sequence conflicti328 – 3281F → S in BAG60270. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK024707 mRNA. Translation: BAB14970.1. Different initiation.
AK297958 mRNA. Translation: BAG60270.1.
AK302275 mRNA. Translation: BAG63620.1.
AC114489 Genomic DNA. No translation available.
BC119700 mRNA. Translation: AAI19701.1. Different initiation.
BC119701 mRNA. Translation: AAI19702.1. Different initiation.
CCDSiCCDS367.2. [Q9H7C4-1]
CCDS53294.1. [Q9H7C4-2]
RefSeqiNP_001155180.1. NM_001161708.1.
NP_110413.2. NM_030786.2.
UniGeneiHs.712631.

Genome annotation databases

EnsembliENST00000373484; ENSP00000362583; ENSG00000162520. [Q9H7C4-2]
ENST00000409190; ENSP00000386439; ENSG00000162520. [Q9H7C4-1]
GeneIDi81493.
KEGGihsa:81493.
UCSCiuc001bvt.2. human. [Q9H7C4-1]
uc010ohl.1. human. [Q9H7C4-2]

Polymorphism databases

DMDMi300669677.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK024707 mRNA. Translation: BAB14970.1 . Different initiation.
AK297958 mRNA. Translation: BAG60270.1 .
AK302275 mRNA. Translation: BAG63620.1 .
AC114489 Genomic DNA. No translation available.
BC119700 mRNA. Translation: AAI19701.1 . Different initiation.
BC119701 mRNA. Translation: AAI19702.1 . Different initiation.
CCDSi CCDS367.2. [Q9H7C4-1 ]
CCDS53294.1. [Q9H7C4-2 ]
RefSeqi NP_001155180.1. NM_001161708.1.
NP_110413.2. NM_030786.2.
UniGenei Hs.712631.

3D structure databases

ProteinModelPortali Q9H7C4.
SMRi Q9H7C4. Positions 169-293, 317-458.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123502. 1 interaction.
STRINGi 9606.ENSP00000386439.

PTM databases

PhosphoSitei Q9H7C4.

Polymorphism databases

DMDMi 300669677.

Proteomic databases

MaxQBi Q9H7C4.
PaxDbi Q9H7C4.
PRIDEi Q9H7C4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373484 ; ENSP00000362583 ; ENSG00000162520 . [Q9H7C4-2 ]
ENST00000409190 ; ENSP00000386439 ; ENSG00000162520 . [Q9H7C4-1 ]
GeneIDi 81493.
KEGGi hsa:81493.
UCSCi uc001bvt.2. human. [Q9H7C4-1 ]
uc010ohl.1. human. [Q9H7C4-2 ]

Organism-specific databases

CTDi 81493.
GeneCardsi GC01M033145.
H-InvDB HIX0000378.
HGNCi HGNC:28897. SYNC.
HPAi HPA028311.
MIMi 611750. gene.
neXtProti NX_Q9H7C4.
PharmGKBi PA164726395.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79532.
HOGENOMi HOG000010275.
HOVERGENi HBG108528.
InParanoidi Q9H7C4.
KOi K10377.
OMAi ECVAYQY.
OrthoDBi EOG7MH102.
PhylomeDBi Q9H7C4.

Miscellaneous databases

GenomeRNAii 81493.
NextBioi 71734.
PROi Q9H7C4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H7C4.
Bgeei Q9H7C4.
CleanExi HS_SYNC.
Genevestigatori Q9H7C4.

Family and domain databases

InterProi IPR001664. IF.
IPR027702. Syncoilin.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
PTHR23239:SF100. PTHR23239:SF100. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORMS 1 AND 2).
  2. "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].
  3. "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] OF 311-482 (ISOFORM 1).
  4. "Syncoilin upregulation in muscle of patients with neuromuscular disease."
    Brown S.C., Torelli S., Ugo I., De Biasia F., Howman E.V., Poon E., Britton J., Davies K.E., Muntoni F.
    Muscle Nerve 32:715-725(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  5. "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-325, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiSYNCI_HUMAN
AccessioniPrimary (citable) accession number: Q9H7C4
Secondary accession number(s): B4DNK8, B4DY58, C9IY41
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 13, 2010
Last modified: July 9, 2014
This is version 87 of the entry and version 3 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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