Q5SQN1 (SNP47_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Synaptosomal-associated protein 47
Short name=SNAP-47

Alternative name(s):
Epididymis luminal protein 170
Synaptosomal-associated 47 kDa protein

Gene names

Name:	SNAP47
Synonyms:	C1orf142, HEL170, SVAP1

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

General annotation (Comments)

Function	Plays a role in intracellular membrane fusion By similarity.
Subunit structure	Forms a complex containing SNAP47, VAMP2 and STX1A By similarity. Associates with the BLOC-1 complex. Interacts with BLOC1S6. Ref.8
Subcellular location	Endomembrane system By similarity. Cytoplasm › perinuclear region By similarity. Note: Appears to be exclusively membrane-bound By similarity.
Sequence similarities	Belongs to the SVAP1 family. Contains 2 t-SNARE coiled-coil homology domains.
Sequence caution	The sequence BAB70779.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell membrane Inferred from electronic annotation. Source: UniProtKB-KW perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5SQN1-1)

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: Q5SQN1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS

Isoform 3 (identifier: Q5SQN1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.
     417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS

Isoform 4 (identifier: Q5SQN1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 464	464	Synaptosomal-associated protein 47		PRO_0000307151
Regions
	Domain	154 – 216	63	t-SNARE coiled-coil homology 1
	Domain	401 – 463	63	t-SNARE coiled-coil homology 2
Natural variations
	Alternative sequence	1 – 242	242	Missing in isoform 3 and isoform 4.		VSP_028613
	Alternative sequence	417 – 464	48	ILRRM…MKRLT → GFRPMSLSTQTVLVMLCSES AGALWRQRLS in isoform 2 and isoform 3.		VSP_028614
	Natural variant	48	1	R → G. Corresponds to variant rs2236359 [ dbSNP | Ensembl ].		VAR_035367
	Natural variant	119	1	G → R. Ref.5 Corresponds to variant rs12239037 [ dbSNP | Ensembl ].		VAR_035368
	Natural variant	154	1	V → M. Ref.1 Ref.5 Corresponds to variant rs2236358 [ dbSNP | Ensembl ].		VAR_035369
	Natural variant	381	1	R → C. Ref.5 Ref.6 Corresponds to variant rs17851681 [ dbSNP | Ensembl ].		VAR_035370
Experimental info
	Sequence conflict	84 – 86	3	DST → TRP in AAH01332. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 26, 2009. Version 3. Checksum: FC4061061B0042ED	FASTA	464	52,562
	10 20 30 40 50 60 MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV CIHTWPCTYY 70 80 90 100 110 120 LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE IKKEASHFIF SSITILEKGH 130 140 150 160 170 180 AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ PGAVADASVP RTRGEELTGL MAGSQKRLED 190 200 210 220 230 240 TARVLHHQGQ QLDSVMRGLD KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED 250 260 270 280 290 300 VSMTSCEPFG KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV 310 320 330 340 350 360 DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL EDALVLRSAR 370 380 390 400 410 420 TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ TSLPALSEAD TQELTQILRR 430 440 450 460 MKGLALEAES ELERQDEALD GVAAAVDRAT LTIDKHNRRM KRLT
	Isoform 2 [UniParc]. Checksum: 1E3234C0CA9733F8	FASTA	446	50,426
	10 20 30 40 50 60 MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV CIHTWPCTYY 70 80 90 100 110 120 LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE IKKEASHFIF SSITILEKGH 130 140 150 160 170 180 AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ PGAVADASVP RTRGEELTGL MAGSQKRLED 190 200 210 220 230 240 TARVLHHQGQ QLDSVMRGLD KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED 250 260 270 280 290 300 VSMTSCEPFG KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV 310 320 330 340 350 360 DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL EDALVLRSAR 370 380 390 400 410 420 TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ TSLPALSEAD TQELTQGFRP 430 440 MSLSTQTVLV MLCSESAGAL WRQRLS
	Isoform 3 [UniParc]. Checksum: 4B47342BDE0CCACB	FASTA	204	22,643
	10 20 30 40 50 60 MTSCEPFGKE GILIKIPAVI SHRTESHVKP GRLTVLVSGL EIHDSSSLLM HRFEREDVDD 70 80 90 100 110 120 IKVHSPYEIS IRQRFIGKPD MAYRLISAKM PEVIPILEVQ FSKKMELLED ALVLRSARTS 130 140 150 160 170 180 SPAEKSCSVW HAASGLMGRT LHREPPAGDQ EGTALHLQTS LPALSEADTQ ELTQGFRPMS 190 200 LSTQTVLVML CSESAGALWR QRLS
	Isoform 4 [UniParc]. Checksum: 67C964BEFAD2D416	FASTA	222	24,779
	10 20 30 40 50 60 MTSCEPFGKE GILIKIPAVI SHRTESHVKP GRLTVLVSGL EIHDSSSLLM HRFEREDVDD 70 80 90 100 110 120 IKVHSPYEIS IRQRFIGKPD MAYRLISAKM PEVIPILEVQ FSKKMELLED ALVLRSARTS 130 140 150 160 170 180 SPAEKSCSVW HAASGLMGRT LHREPPAGDQ EGTALHLQTS LPALSEADTQ ELTQILRRMK 190 200 210 220 GLALEAESEL ERQDEALDGV AAAVDRATLT IDKHNRRMKR LT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Homo sapiens GRASP protein." Yang J., Qiu Y. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-154.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Colon endothelium.
[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]	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].
[5]	"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] (ISOFORMS 1 AND 4), VARIANTS ARG-119; MET-154 AND CYS-381. Tissue: Cervix, Kidney, Lung, Muscle, Ovary, Pancreas and Placenta.
[6]	"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] OF 10-464 (ISOFORM 2), VARIANT CYS-381. Tissue: Astrocyte.
[7]	Li J., Wang H. Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-464 (ISOFORM 1).
[8]	"The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth." Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R., Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C., Dell'Angelica E.C. Mol. Psychiatry 15:204-215(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION WITH THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S6.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY090635 mRNA. Translation: AAM09082.1. BX648570 mRNA. Translation: CAI45994.1. AL731702, AL136378 Genomic DNA. Translation: CAI21075.1. AL731702, AL136378 Genomic DNA. Translation: CAI21076.1. AL136378, AL731702 Genomic DNA. Translation: CAI23069.1. AL136378 Genomic DNA. Translation: CAI23071.1. AL136378, AL731702 Genomic DNA. Translation: CAI23072.1. CH471098 Genomic DNA. Translation: EAW69817.1. BC001332 mRNA. Translation: AAH01332.1. BC004418 mRNA. Translation: AAH04418.1. BC007786 mRNA. Translation: AAH07786.2. BC011145 mRNA. Translation: AAH11145.1. BC014059 mRNA. Translation: AAH14059.2. BC018760 mRNA. Translation: AAH18760.2. BC025231 mRNA. Translation: AAH25231.1. BC032775 mRNA. Translation: AAH32775.1. AK054633 mRNA. Translation: BAB70779.1. Different initiation. FJ236305 mRNA. Translation: ACI45237.1.
IPI	IPI00289433. IPI00291292. IPI00639909. IPI00641526.
RefSeq	NP_444280.2. NM_053052.3.
UniGene	Hs.325081.
3D structure databases
ProteinModelPortal	Q5SQN1.
SMR	Q5SQN1. Positions 164-216, 408-460.
ModBase	Search...
PTM databases
PhosphoSite	Q5SQN1.
Polymorphism databases
DMDM	238054367.
Proteomic databases
PaxDb	Q5SQN1.
PRIDE	Q5SQN1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000315781; ENSP00000314157; ENSG00000143740. ENST00000366759; ENSP00000355721; ENSG00000143740. ENST00000366760; ENSP00000355722; ENSG00000143740.
GeneID	116841.
KEGG	hsa:116841.
UCSC	uc001hra.2. human. uc001hrd.3. human. uc001hre.3. human. uc001hrf.2. human.
Organism-specific databases
CTD	116841.
GeneCards	GC01P227917.
H-InvDB	HIX0023151.
HGNC	HGNC:30669. SNAP47.
HPA	HPA028167.
neXtProt	NX_Q5SQN1.
PharmGKB	PA164725983.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG261157.
HOVERGEN	HBG057915.
InParanoid	Q5SQN1.
KO	K08509.
OMA	LEHFWRE.
PhylomeDB	Q5SQN1.
Gene expression databases
ArrayExpress	Q5SQN1.
Bgee	Q5SQN1.
CleanEx	HS_SNAP47.
Genevestigator	Q5SQN1.
Family and domain databases
InterPro	IPR000727. T_SNARE_dom. [Graphical view]
PROSITE	PS50192. T_SNARE. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	116841.
NextBio	80008.

Entry information

Entry name

SNP47_HUMAN

Accession

Primary (citable) accession number: Q5SQN1
Secondary accession number(s): B6EDE0 , Q5HYB5, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	May 26, 2009
Last modified:	April 3, 2013
This is version 67 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.