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Q9H7C4 (SYNCI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
Syncoilin
Alternative name(s):
Syncoilin intermediate filament 1
Syncoilin-1
Gene names
Name:SYNC
Synonyms:SYNC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length482 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with DES and DTNA By similarity. UniProtKB Q9EPM5

Subcellular location

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. UniProtKB Q9EPM5

Induction

Up-regulated at the sarcolemma in individuals with various forms of neuromuscular disease. Ref.4

Sequence similarities

Belongs to the intermediate filament family.

Sequence caution

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 products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H7C4-1)

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: Q9H7C4-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 482482Syncoilin
PRO_0000306180

Regions

Region1 – 161161Head
Region162 – 1698Rod
Region170 – 20435Coil 1A
Region205 – 23127Linker 1
Region232 – 30978Coil 1b
Region310 – 34940Linker 2
Region350 – 458109Coil 2
Region459 – 48224Tail

Amino acid modifications

Modified residue3251Phosphoserine Ref.5

Natural variations

Alternative sequence454 – 48229AMLLP…SQGAV → GCLEIYGQICNPETAKNFLA KDH in isoform 2.
VSP_039404

Experimental info

Sequence conflict581I → T in BAG60270. Ref.1
Sequence conflict1631M → V in BAG63620. Ref.1
Sequence conflict1631M → V in BAG60270. Ref.1
Sequence conflict2741R → Q in BAG63620. Ref.1
Sequence conflict2741R → Q in BAG60270. Ref.1
Sequence conflict3281F → S in BAG60270. Ref.1

Sequences

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

Last modified July 13, 2010. Version 3.
Checksum: 969F2DA9C48C858B

FASTA48255,299
        10         20         30         40         50         60 
MASPEPRRGG DGAAQAARKT RVEANSPLPK NSGSLNEAEA LNPEVTLSSE GSLNLEDILY 

        70         80         90        100        110        120 
LEDTGDLDET LYVQETEKAE EALYIEEAMQ PDEALHVEEP GNPEETVCVE ETTEPDRIQF 

       130        140        150        160        170        180 
VEGPVEPGKP TSPEHVVYEG ETVTRAEKSN PEESLRAEQS PSMEENLSIE DLELLEGRFQ 

       190        200        210        220        230        240 
QCVQAVAQLE EERDQLIHEL VLLREPALQE VQQVHQDILA AYKLHAQAEL ERDGLREEIR 

       250        260        270        280        290        300 
LVKQKLFKVT KECVAYQYQL ECRQQDVAQF ADFREVLTTR ATQLSEELAQ LRDAYQKQKE 

       310        320        330        340        350        360 
QLRQQLEAPP SQRDGHFLQE SRRLSAQFEN LMAESRQDLE EEYEPQFLRL LERKEAGTKA 

       370        380        390        400        410        420 
LQRTQAEIQE MKEALRPLQA EARQLRLQNR NLEDQIALVR QKRDEEVQQY REQLEEMEER 

       430        440        450        460        470        480 
QRQLRNGVQL QQQKNKEMEQ LRLSLAEELS TYKAMLLPKS LEQADAPTSQ AGGMETQSQG 


AV 

« Hide

Isoform 2 [UniParc].

Checksum: 2B3ADA20445CCE58
Show »

FASTA47654,947

References

« Hide 'large scale' references
[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. 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] (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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001155180.1. NM_001161708.1.
NP_110413.2. NM_030786.2.
UniGeneHs.712631.

3D structure databases

ProteinModelPortalQ9H7C4.
SMRQ9H7C4. Positions 169-293, 317-458.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123502. 1 interaction.
STRING9606.ENSP00000386439.

PTM databases

PhosphoSiteQ9H7C4.

Polymorphism databases

DMDM300669677.

Proteomic databases

PaxDbQ9H7C4.
PRIDEQ9H7C4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373484; ENSP00000362583; ENSG00000162520. [Q9H7C4-2]
ENST00000409190; ENSP00000386439; ENSG00000162520. [Q9H7C4-1]
GeneID81493.
KEGGhsa:81493.
UCSCuc001bvt.2. human. [Q9H7C4-1]
uc010ohl.1. human. [Q9H7C4-2]

Organism-specific databases

CTD81493.
GeneCardsGC01M033145.
H-InvDBHIX0000378.
HGNCHGNC:28897. SYNC.
HPAHPA028311.
MIM611750. gene.
neXtProtNX_Q9H7C4.
PharmGKBPA164726395.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79532.
HOGENOMHOG000010275.
HOVERGENHBG108528.
InParanoidQ9H7C4.
KOK10377.
OMAECVAYQY.
OrthoDBEOG7MH102.
PhylomeDBQ9H7C4.

Gene expression databases

ArrayExpressQ9H7C4.
BgeeQ9H7C4.
CleanExHS_SYNC.
GenevestigatorQ9H7C4.

Family and domain databases

InterProIPR001664. IF.
IPR027702. Syncoilin.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF36. PTHR23239:SF36. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi81493.
NextBio71734.
PROQ9H7C4.
SOURCESearch...

Entry information

Entry nameSYNCI_HUMAN
AccessionPrimary (citable) accession number: Q9H7C4
Secondary accession number(s): B4DNK8, B4DY58, C9IY41
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 84 of the entry and version 3 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 chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM