P17600 (SYN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Synapsin-1

Alternative name(s):
Brain protein 4.1
Synapsin I

Gene names

Name:

SYN1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	705 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.
Subunit structure	Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP By similarity.
Subcellular location	Cell junction › synapse. Golgi apparatus By similarity.
Post-translational modification	Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the regulation of synapsin-1 in the nerve terminal. Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.6 Ref.7
Involvement in disease	Defects in SYN1 are a cause of epilepsy X-linked with variable learning disabilities and behavior disorders (XELBD) [MIM:300491]. XELBD is characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. Ref.5
Sequence similarities	Belongs to the synapsin family.

Ontologies

Keywords
Cellular component	Cell junction Golgi apparatus Synapse
Coding sequence diversity	Alternative splicing
Disease	Epilepsy
Domain	Repeat
Ligand	Actin-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cell junction Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro actin binding Inferred from electronic annotation. Source: UniProtKB-KW ligase activity Inferred from electronic annotation. Source: InterPro transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform IA (identifier: P17600-1)

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 IB (identifier: P17600-2)

The sequence of this isoform differs from the canonical sequence as follows:
     661-669: NKSQSLTNA → KASPAQAQP
     670-705: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 705	705	Synapsin-1		PRO_0000183018
Regions
	Region	1 – 28	28	A
	Region	29 – 112	84	B; linker
	Region	113 – 420	308	C; actin-binding and synaptic-vesicle binding
	Region	421 – 655	235	D; Pro-rich linker
	Region	656 – 705	50	E
Amino acid modifications
	Modified residue	9	1	Phosphoserine; by CaMK1 and PKA
	Modified residue	39	1	Phosphoserine Ref.6
	Modified residue	62	1	Phosphoserine By similarity
	Modified residue	67	1	Phosphoserine By similarity
	Modified residue	312	1	Phosphotyrosine By similarity
	Modified residue	337	1	Phosphothreonine By similarity
	Modified residue	427	1	Phosphoserine Ref.6
	Modified residue	510	1	Phosphoserine By similarity
	Modified residue	512	1	Phosphothreonine By similarity
	Modified residue	520	1	Phosphoserine By similarity
	Modified residue	551	1	Phosphoserine; by PDPK1 Ref.6
	Modified residue	553	1	Phosphoserine Ref.6
	Modified residue	568	1	Phosphoserine; by CaMK2
	Modified residue	605	1	Phosphoserine; by CaMK2 Ref.6 Ref.7
	Modified residue	665	1	Phosphoserine By similarity
	Modified residue	704	1	Phosphoserine By similarity
	Glycosylation	55	1	O-linked (GlcNAc) By similarity
	Glycosylation	87	1	O-linked (GlcNAc) By similarity
	Glycosylation	96	1	O-linked (GlcNAc) By similarity
	Glycosylation	103	1	O-linked (GlcNAc) By similarity
	Glycosylation	261	1	O-linked (GlcNAc) By similarity
	Glycosylation	432	1	O-linked (GlcNAc) By similarity
	Glycosylation	526	1	O-linked (GlcNAc) By similarity
	Glycosylation	564	1	O-linked (GlcNAc) By similarity
	Glycosylation	578	1	O-linked (GlcNAc) By similarity
Natural variations
	Alternative sequence	661 – 669	9	NKSQSLTNA → KASPAQAQP in isoform IB.		VSP_006316
	Alternative sequence	670 – 705	36	Missing in isoform IB.		VSP_006317
Experimental info
	Sequence conflict	138	1	E → G in AAC41930. Ref.1
	Sequence conflict	138	1	E → G in AAC41931. Ref.1
	Sequence conflict	631	1	R → A in AAC41930. Ref.1
	Sequence conflict	631	1	R → A in AAC41931. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform IA [UniParc]. Last modified August 30, 2005. Version 3. Checksum: BE4CE46C942300B0	FASTA	705	74,111
	10 20 30 40 50 60 MNYLRRRLSD SNFMANLPNG YMTDLQRPQP PPPPPGAHSP GATPGPGTAT AERSSGVAPA 70 80 90 100 110 120 ASPAAPSPGS SGGGGFFSSL SNAVKQTTAA AAATFSEQVG GGSGGAGRGG AASRVLLVID 130 140 150 160 170 180 EPHTDWAKYF KGKKIHGEID IKVEQAEFSD LNLVAHANGG FSVDMEVLRN GVKVVRSLKP 190 200 210 220 230 240 DFVLIRQHAF SMARNGDYRS LVIGLQYAGI PSVNSLHSVY NFCDKPWVFA QMVRLHKKLG 250 260 270 280 290 300 TEEFPLIDQT FYPNHKEMLS STTYPVVVKM GHAHSGMGKV KVDNQHDFQD IASVVALTKT 310 320 330 340 350 360 YATAEPFIDA KYDVRVQKIG QNYKAYMRTS VSGNWKTNTG SAMLEQIAMS DRYKLWVDTC 370 380 390 400 410 420 SEIFGGLDIC AVEALHGKDG RDHIIEVVGS SMPLIGDHQD EDKQLIVELV VNKMAQALPR 430 440 450 460 470 480 QRQRDASPGR GSHGQTPSPG ALPLGRQTSQ QPAGPPAQQR PPPQGGPPQP GPGPQRQGPP 490 500 510 520 530 540 LQQRPPPQGQ QHLSGLGPPA GSPLPQRLPS PTSAPQQPAS QAAPPTQGQG RQSRPVAGGP 550 560 570 580 590 600 GAPPAARPPA SPSPQRQAGP PQATRQTSVS GPAPPKASGA PPGGQQRQGP PQKPPGPAGP 610 620 630 640 650 660 TRQASQAGPV PRTGPPTTQQ PRPSGPGPAG RPKPQLAQKP SQDVPPPATA AAGGPPHPQL 670 680 690 700 NKSQSLTNAF NLPEPAPPRP SLSQDEVKAE TIRSLRKSFA SLFSD
	Isoform IB [UniParc]. Checksum: 5E400115415D3E32	FASTA	669	70,033
	10 20 30 40 50 60 MNYLRRRLSD SNFMANLPNG YMTDLQRPQP PPPPPGAHSP GATPGPGTAT AERSSGVAPA 70 80 90 100 110 120 ASPAAPSPGS SGGGGFFSSL SNAVKQTTAA AAATFSEQVG GGSGGAGRGG AASRVLLVID 130 140 150 160 170 180 EPHTDWAKYF KGKKIHGEID IKVEQAEFSD LNLVAHANGG FSVDMEVLRN GVKVVRSLKP 190 200 210 220 230 240 DFVLIRQHAF SMARNGDYRS LVIGLQYAGI PSVNSLHSVY NFCDKPWVFA QMVRLHKKLG 250 260 270 280 290 300 TEEFPLIDQT FYPNHKEMLS STTYPVVVKM GHAHSGMGKV KVDNQHDFQD IASVVALTKT 310 320 330 340 350 360 YATAEPFIDA KYDVRVQKIG QNYKAYMRTS VSGNWKTNTG SAMLEQIAMS DRYKLWVDTC 370 380 390 400 410 420 SEIFGGLDIC AVEALHGKDG RDHIIEVVGS SMPLIGDHQD EDKQLIVELV VNKMAQALPR 430 440 450 460 470 480 QRQRDASPGR GSHGQTPSPG ALPLGRQTSQ QPAGPPAQQR PPPQGGPPQP GPGPQRQGPP 490 500 510 520 530 540 LQQRPPPQGQ QHLSGLGPPA GSPLPQRLPS PTSAPQQPAS QAAPPTQGQG RQSRPVAGGP 550 560 570 580 590 600 GAPPAARPPA SPSPQRQAGP PQATRQTSVS GPAPPKASGA PPGGQQRQGP PQKPPGPAGP 610 620 630 640 650 660 TRQASQAGPV PRTGPPTTQQ PRPSGPGPAG RPKPQLAQKP SQDVPPPATA AAGGPPHPQL KASPAQAQP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The structure of the human synapsin I gene and protein." Suedhof T.C. J. Biol. Chem. 265:7849-7852(1990) [PubMed: 2110562] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING. Tissue: Brain.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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].
[4]	"The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function." Sauerwald A., Hoesche C., Oschwald R., Kilimann M.W. J. Biol. Chem. 265:14932-14937(1990) [PubMed: 2118519] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-125.
[5]	"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy." Garcia C.C., Blair H.J., Seager M., Coulthard A., Tennant S., Buddles M., Curtis A., Goodship J.A. J. Med. Genet. 41:183-187(2004) [PubMed: 14985377] [Abstract] Cited for: INVOLVEMENT IN XELBD.
[6]	"Phosphoproteomic analysis of synaptosomes from human cerebral cortex." DeGiorgis J.A., Jaffe H., Moreira J.E., Carlotti C.G. Jr., Leite J.P., Pant H.C., Dosemeci A. J. Proteome Res. 4:306-315(2005) [PubMed: 15822905] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-39; SER-427; SER-551; SER-553 AND SER-605, MASS SPECTROMETRY. Tissue: Brain cortex.
[7]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-605, MASS SPECTROMETRY. Tissue: Embryonic kidney.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M58378 , M58321, M58341, M58351, M58353, M58359, M58371, M58372, M58373, M58374, M58375, M58376, M58377 Genomic DNA. Translation: AAC41930.1. M58378 , M58321, M58341, M58351, M58353, M58359, M58371, M58372, M58373, M58374, M58375, M58376, M58377 Genomic DNA. Translation: AAC41931.1. Sequence problems. AL009172, Z84466 Genomic DNA. Translation: CAI42445.1. AL009172, Z84466 Genomic DNA. Translation: CAI42446.1. Z84466, AL009172 Genomic DNA. Translation: CAI42461.1. Z84466, AL009172 Genomic DNA. Translation: CAI42462.1. CH471164 Genomic DNA. Translation: EAW59313.1. M55301 Genomic DNA. Translation: AAA60608.1.
IPI	IPI00251507. IPI00300568.
PIR	A35363.
RefSeq	NP_008881.2. NM_006950.3. NP_598006.1. NM_133499.2.
UniGene	Hs.225936.
3D structure databases
ProteinModelPortal	P17600.
SMR	P17600. Positions 112-417.
ModBase	Search...
Protein-protein interaction databases
IntAct	P17600. 5 interactions.
MINT	MINT-1370745.
STRING	P17600.
PTM databases
PhosphoSite	P17600.
Polymorphism databases
DMDM	73920800.
Proteomic databases
PRIDE	P17600.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295987; ENSP00000295987; ENSG00000008056.
GeneID	6853.
KEGG	hsa:6853.
UCSC	uc004did.1. human. uc004die.1. human.
Organism-specific databases
CTD	6853.
GeneCards	GC0XM047431.
HGNC	HGNC:11494. SYN1.
HPA	CAB021929. HPA000397.
MIM	300491. phenotype. 313440. gene.
neXtProt	NX_P17600.
Orphanet	85294. X-linked epilepsy - learning disabilities - behavior disorders.
PharmGKB	PA36276.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13995.
GeneTree	ENSGT00530000063319.
HOGENOM	HBG445598.
HOVERGEN	HBG016354.
InParanoid	P17600.
OMA	RNGVKVM.
PhylomeDB	P17600.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	P17600.
Bgee	P17600.
CleanEx	HS_SYN1.
Genevestigator	P17600.
GermOnline	ENSG00000008056. Homo sapiens.
Family and domain databases
InterPro	IPR013815. ATP_grasp_subdomain_1. IPR013816. ATP_grasp_subdomain_2. IPR013817. Pre-ATP_grasp. IPR016185. PreATP-grasp-like. IPR001359. Synapsin. IPR020898. Synapsin_ATP-bd_dom. IPR019735. Synapsin_CS. IPR019736. Synapsin_P_site. IPR020897. Synapsin_pre-ATP-grasp_dom. [Graphical view]
Gene3D	G3DSA:3.30.1490.20. ATP_grasp_subdomain_1. 1 hit. G3DSA:3.30.470.20. ATP_grasp_subdomain_2. 2 hits. G3DSA:3.40.50.20. Pre-ATP_grasp. 1 hit.
Pfam	PF02078. Synapsin. 1 hit. PF02750. Synapsin_C. 1 hit. PF10581. Synapsin_N. 1 hit. [Graphical view]
PRINTS	PR01368. SYNAPSIN.
SUPFAM	SSF52440. PreATP-grasp-like. 1 hit.
PROSITE	PS00415. SYNAPSIN_1. 1 hit. PS00416. SYNAPSIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	26745.
SOURCE	Search...

Entry information

Entry name

SYN1_HUMAN

Accession

Primary (citable) accession number: P17600
Secondary accession number(s): B1AJQ1, O75825, Q5H9A9

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
Last sequence update:	August 30, 2005
Last modified:	January 25, 2012
This is version 123 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.