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Q8NB59 (SYT14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Synaptotagmin-14
Alternative name(s):
Synaptotagmin XIV
Short name=SytXIV
Gene names
Name:SYT14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length555 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca2+-independent.

Subunit structure

Homodimer. Can also form heterodimers By similarity.

Subcellular location

Membrane; Single-pass type III membrane protein. Note: Localized in perinuclear and submembranous regions. Ref.6

Tissue specificity

Highly expressed in fetal and adult brain tissue. Ref.6

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the synaptotagmin family.

Contains 2 C2 domains.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Neurodegeneration
   DomainRepeat
Signal-anchor
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionphospholipid binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NB59-1)

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: Q8NB59-2)

The sequence of this isoform differs from the canonical sequence as follows:
     450-457: PPNTYVKL → HPMDCSVV
     458-555: Missing.
Isoform 3 (identifier: Q8NB59-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
Isoform 4 (identifier: Q8NB59-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
     299-303: QVHLV → AVTPK
     304-555: Missing.
Isoform 5 (identifier: Q8NB59-5)

The sequence of this isoform differs from the canonical sequence as follows:
     452-452: N → TFHPLLSDGLFCCLKHLIGGQVYIIRD
Isoform 6 (identifier: Q8NB59-6)

The sequence of this isoform differs from the canonical sequence as follows:
     452-452: N → NGLFCCLKHLIGGQVYIIRD
Isoform 7 (identifier: Q8NB59-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MAIEGGERTCGVHELICIRK → MASASWRLKV...ASASQVTGTT
     452-452: N → NGLFCCLKHLIGGQVYIIRD
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 555555Synaptotagmin-14
PRO_0000183978

Regions

Topological domain1 – 2424Extracellular Potential
Transmembrane25 – 4723Helical; Signal-anchor for type III membrane protein; Potential
Topological domain48 – 555508Cytoplasmic Potential
Domain276 – 378103C2 1
Domain417 – 521105C2 2

Natural variations

Alternative sequence1 – 3838Missing in isoform 3 and isoform 4.
VSP_011602
Alternative sequence1 – 2020MAIEG…ICIRK → MASASWRLKVEREPVEYMNL SVLEKIGYFSVARLEYSGTI LAHCNFRLLGSNDSSASASQ VTGTT in isoform 7.
VSP_046124
Alternative sequence299 – 3035QVHLV → AVTPK in isoform 4.
VSP_011603
Alternative sequence304 – 555252Missing in isoform 4.
VSP_011604
Alternative sequence450 – 4578PPNTYVKL → HPMDCSVV in isoform 2.
VSP_011605
Alternative sequence4521N → TFHPLLSDGLFCCLKHLIGG QVYIIRD in isoform 5.
VSP_011607
Alternative sequence4521N → NGLFCCLKHLIGGQVYIIRD in isoform 6 and isoform 7.
VSP_011608
Alternative sequence458 – 55598Missing in isoform 2.
VSP_011606
Natural variant1381G → E. Ref.6
VAR_066663
Natural variant4391G → D in SCAR11; shows intracellular localization different from that of the wild-type protein; forms a reticular pattern in the cytoplasm; does not show submembranous distribution; is abnormally retained in the endoplasmic reticulum consistent to improper folding. Ref.6
VAR_066664

Experimental info

Sequence conflict1951S → N in CAE85112. Ref.2
Sequence conflict3231V → A in CAE85113. Ref.2
Sequence conflict5141K → E in BAC76809. Ref.1
Sequence conflict5141K → E in BAC03682. Ref.3

Sequences

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

Last modified October 17, 2006. Version 2.
Checksum: A7E7359DC3DEF5B9

FASTA55562,287
        10         20         30         40         50         60 
MAIEGGERTC GVHELICIRK VSPEAVGFLS AVGVFIILML LLFLYINKKF CFENVGGFPD 

        70         80         90        100        110        120 
LGSEYSTRKN SQDKIYNSYM DKDEHGSSSE SEDEALGKYH EALSRTHNSR LPLADSRQRN 

       130        140        150        160        170        180 
YAWETRQKYS PLSAEYDGYS SEASIDEGNC IQRMRRTPPL DELQPPPYQD DSGSPHLSCT 

       190        200        210        220        230        240 
PSEIGDSKCE FSHCSNSPRC SYNKCPSEGS TGHEIESFHN KGYEEDVPSD STAVLSPEDM 

       250        260        270        280        290        300 
SAQGSSSQLP KPFDPEPEAK YGTLDVTFDY DSQEQKLLVT VTAVTDIPTY NRTGGNSWQV 

       310        320        330        340        350        360 
HLVLLPIKKQ RAKTSIQRGP CPVFTETFKF NHVESEMIGN YAVRFRLYGV HRMKKEKIVG 

       370        380        390        400        410        420 
EKIFYLTKLN LQGKMSLPVI LEPSYNHSGC DSQMSVSEMS CSESTSSCQS LEHGSVPEIL 

       430        440        450        460        470        480 
IGLLYNATTG RLSAEVIKGS HFKNLAANRP PNTYVKLTLL NSMGQEMSKC KTSIRRGQPN 

       490        500        510        520        530        540 
PVYKETFVFQ VALFQLSDVT LILSVYNKRS MKRKEMIGWI SLGLNSSGEE ELNHWTEMKE 

       550 
SKGQQVCRWH ALLES 

« Hide

Isoform 2 [UniParc].

Checksum: 6921572FE920B878
Show »

FASTA45750,923
Isoform 3 [UniParc].

Checksum: 4211CBB56E0E73EC
Show »

FASTA51758,289
Isoform 4 [UniParc].

Checksum: FC80A0B09B5DE2BD
Show »

FASTA26529,654
Isoform 5 [UniParc].

Checksum: 96CAD81E55551FB5
Show »

FASTA58165,215
Isoform 6 [UniParc].

Checksum: 0DA3491777CA1FF4
Show »

FASTA57464,418
Isoform 7 [UniParc].

Checksum: BD9AAB3F9D5F0AE4
Show »

FASTA61969,346

References

« Hide 'large scale' references
[1]"Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans."
Fukuda M.
J. Biochem. 133:641-649(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Synaptotagmin gene content of the sequenced genomes."
Craxton M.A.
BMC Genomics 5:43-43(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5 AND 6).
[3]"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] (ISOFORM 1).
Tissue: Brain.
[4]"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].
[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] (ISOFORM 7).
Tissue: Cerebellum.
[6]"Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation."
Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H., Ikeda S., Kato R., Tsurusaki Y., Miyake N., Saitsu H., Sakai H., Miyatake S., Shiina M., Nukina N., Koyano S., Tsuji S., Kuroiwa Y., Matsumoto N.
Am. J. Hum. Genet. 89:320-327(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT SCAR11 ASP-439, VARIANT GLU-138, CHARACTERIZATION OF VARIANT SCAR11 ASP-439.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB102948 mRNA. Translation: BAC76809.1.
AJ617623 mRNA. Translation: CAE85109.1.
AJ617624 mRNA. Translation: CAE85110.1.
AJ617625 mRNA. Translation: CAE85111.1.
AJ617626 mRNA. Translation: CAE85112.1.
AJ617627 mRNA. Translation: CAE85113.1.
AK091517 mRNA. Translation: BAC03682.1.
AL513263, AL022397, AL022399 Genomic DNA. Translation: CAI17884.1.
AL022397, AL022399, AL513263 Genomic DNA. Translation: CAI17887.1.
AL022397, AL513263, AL022399 Genomic DNA. Translation: CAI17888.1.
AL022397, AL513263 Genomic DNA. Translation: CAI17889.1.
AL022399, AL513263, AL022397 Genomic DNA. Translation: CAI22770.1.
AL513263, AL022399, AL022397 Genomic DNA. Translation: CAI17885.1.
AL513263, AL022397 Genomic DNA. Translation: CAI17886.1.
AL022399, AL022397, AL513263 Genomic DNA. Translation: CAI22771.1.
BC144157 mRNA. No translation available.
CCDSCCDS31014.1. [Q8NB59-1]
CCDS53469.1. [Q8NB59-7]
CCDS53470.1. [Q8NB59-6]
CCDS58058.1. [Q8NB59-3]
RefSeqNP_001139734.1. NM_001146262.2. [Q8NB59-6]
NP_001242935.1. NM_001256006.1. [Q8NB59-3]
NP_694994.2. NM_153262.3. [Q8NB59-1]
UniGeneHs.658866.

3D structure databases

ProteinModelPortalQ8NB59.
SMRQ8NB59. Positions 260-552.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129128. 1 interaction.
STRING9606.ENSP00000418901.

PTM databases

PhosphoSiteQ8NB59.

Polymorphism databases

DMDM116242810.

Proteomic databases

PaxDbQ8NB59.
PRIDEQ8NB59.

Protocols and materials databases

DNASU255928.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367015; ENSP00000355982; ENSG00000143469. [Q8NB59-3]
ENST00000367019; ENSP00000355986; ENSG00000143469. [Q8NB59-6]
ENST00000422431; ENSP00000389039; ENSG00000143469. [Q8NB59-7]
ENST00000472886; ENSP00000418901; ENSG00000143469. [Q8NB59-1]
ENST00000534859; ENSP00000442891; ENSG00000143469. [Q8NB59-5]
ENST00000537238; ENSP00000437423; ENSG00000143469. [Q8NB59-3]
GeneID255928.
KEGGhsa:255928.
UCSCuc001hht.5. human. [Q8NB59-6]
uc009xcv.4. human. [Q8NB59-1]

Organism-specific databases

CTD255928.
GeneCardsGC01P210112.
HGNCHGNC:23143. SYT14.
HPAHPA036963.
MIM610949. gene.
614229. phenotype.
neXtProtNX_Q8NB59.
Orphanet284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
PharmGKBPA134887689.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG305739.
HOVERGENHBG062897.
OMAGDSKCEF.
OrthoDBEOG7DRJ31.
PhylomeDBQ8NB59.
TreeFamTF351132.

Gene expression databases

ArrayExpressQ8NB59.
BgeeQ8NB59.
CleanExHS_SYT14.
GenevestigatorQ8NB59.

Family and domain databases

Gene3D2.60.40.150. 2 hits.
InterProIPR000008. C2_dom.
IPR028696. SYT14.
[Graphical view]
PANTHERPTHR10024:SF209. PTHR10024:SF209. 1 hit.
PfamPF00168. C2. 2 hits.
[Graphical view]
SMARTSM00239. C2. 2 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 2 hits.
PROSITEPS50004. C2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSYT14.
GenomeRNAi255928.
NextBio92685.
PROQ8NB59.
SOURCESearch...

Entry information

Entry nameSYT14_HUMAN
AccessionPrimary (citable) accession number: Q8NB59
Secondary accession number(s): B1AJU0 expand/collapse secondary AC list , B1AJU1, F5H426, Q5THX7, Q707N3, Q707N4, Q707N5, Q707N6, Q707N7
Entry history
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 104 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

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