Q9H7C4 (SYNCI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Syncoilin

Alternative name(s):
Syncoilin intermediate filament 1
Syncoilin-1

Gene names

Name:	SYNC
Synonyms:	SYNC1

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	482 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with DES and DTNA By similarity. UniProtKB Q9EPM5
Subcellular location	Cytoplasm › perinuclear 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.

Ontologies

Keywords
Cellular component	Cytoplasm Intermediate filament
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intermediate filament-based process Inferred from electronic annotation. Source: Compara
Cellular_component	Z disc Inferred from electronic annotation. Source: Compara cytosol Inferred from electronic annotation. Source: Compara intermediate filament Inferred from electronic annotation. Source: UniProtKB-KW neuromuscular junction Inferred from electronic annotation. Source: Compara perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell sarcolemma Inferred from electronic annotation. Source: Compara
Molecular_function	structural molecule 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: 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 482	482	Syncoilin		PRO_0000306180
Regions
	Region	1 – 161	161	Head
	Region	162 – 169	8	Rod
	Region	170 – 204	35	Coil 1A
	Region	205 – 231	27	Linker 1
	Region	232 – 309	78	Coil 1b
	Region	310 – 349	40	Linker 2
	Region	350 – 458	109	Coil 2
	Region	459 – 482	24	Tail
Amino acid modifications
	Modified residue	325	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	454 – 482	29	AMLLP…SQGAV → GCLEIYGQICNPETAKNFLA KDH in isoform 2.		VSP_039404
Experimental info
	Sequence conflict	58	1	I → T in BAG60270. Ref.1
	Sequence conflict	163	1	M → V in BAG63620. Ref.1
	Sequence conflict	163	1	M → V in BAG60270. Ref.1
	Sequence conflict	274	1	R → Q in BAG63620. Ref.1
	Sequence conflict	274	1	R → Q in BAG60270. Ref.1
	Sequence conflict	328	1	F → S in BAG60270. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 13, 2010. Version 3. Checksum: 969F2DA9C48C858B	FASTA	482	55,299
	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
	Isoform 2 [UniParc]. Checksum: 2B3ADA20445CCE58	FASTA	476	54,947
	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 QRQLRNGVQL QQQKNKEMEQ LRLSLAEELS TYKGCLEIYG QICNPETAKN FLAKDH

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. 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.
IPI	IPI00910114. IPI00952679.
RefSeq	NP_001155180.1. NM_001161708.1. NP_110413.2. NM_030786.2.
UniGene	Hs.712631.
3D structure databases
ProteinModelPortal	Q9H7C4.
SMR	Q9H7C4. Positions 170-205, 211-293, 365-458.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000386439.
PTM databases
PhosphoSite	Q9H7C4.
Polymorphism databases
DMDM	300669677.
Proteomic databases
PaxDb	Q9H7C4.
PRIDE	Q9H7C4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373484; ENSP00000362583; ENSG00000162520. ENST00000409190; ENSP00000386439; ENSG00000162520.
GeneID	81493.
KEGG	hsa:81493.
UCSC	uc001bvt.2. human. uc010ohl.1. human.
Organism-specific databases
CTD	81493.
GeneCards	GC01M033145.
H-InvDB	HIX0000378.
HGNC	HGNC:28897. SYNC.
HPA	HPA028311.
MIM	611750. gene.
neXtProt	NX_Q9H7C4.
PharmGKB	PA164726395.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG79532.
HOGENOM	HOG000010275.
HOVERGEN	HBG108528.
InParanoid	Q9H7C4.
KO	K10377.
OMA	ECVAYQY.
OrthoDB	EOG47H5RH.
Gene expression databases
ArrayExpress	Q9H7C4.
Bgee	Q9H7C4.
CleanEx	HS_SYNC.
Genevestigator	Q9H7C4.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PROSITE	PS00226. IF. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	81493.
NextBio	71734.
SOURCE	Search...

Entry information

Entry name

SYNCI_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 76 of the entry and version 3 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.