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Protein

Synaptotagmin-14

Gene

SYT14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143469-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Synaptotagmin-14
Alternative name(s):
Synaptotagmin XIV
Short name:
SytXIV
Gene namesi
Name:SYT14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:23143. SYT14.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24ExtracellularSequence analysisAdd BLAST24
Transmembranei25 – 47Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST23
Topological domaini48 – 555CytoplasmicSequence analysisAdd BLAST508

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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.
See also OMIM:614229
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066664439G → 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. 1 PublicationCorresponds to variant rs387907033dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi255928.
MalaCardsiSYT14.
MIMi614229. phenotype.
OpenTargetsiENSG00000143469.
ENSG00000283619.
Orphaneti284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
PharmGKBiPA134887689.

Polymorphism and mutation databases

BioMutaiSYT14.
DMDMi116242810.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001839781 – 555Synaptotagmin-14Add BLAST555

Proteomic databases

MaxQBiQ8NB59.
PaxDbiQ8NB59.
PeptideAtlasiQ8NB59.
PRIDEiQ8NB59.

PTM databases

iPTMnetiQ8NB59.
PhosphoSitePlusiQ8NB59.

Expressioni

Tissue specificityi

Highly expressed in fetal and adult brain tissue.1 Publication

Gene expression databases

BgeeiENSG00000143469.
CleanExiHS_SYT14.
ExpressionAtlasiQ8NB59. baseline and differential.
GenevisibleiQ8NB59. HS.

Organism-specific databases

HPAiHPA036963.

Interactioni

Subunit structurei

Homodimer. Can also form heterodimers (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129128. 1 interactor.
STRINGi9606.ENSP00000389039.

Structurei

3D structure databases

ProteinModelPortaliQ8NB59.
SMRiQ8NB59.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini276 – 378C2 1PROSITE-ProRule annotationAdd BLAST103
Domaini417 – 521C2 2PROSITE-ProRule annotationAdd BLAST105

Sequence similaritiesi

Belongs to the synaptotagmin family.Curated
Contains 2 C2 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IT3J. Eukaryota.
ENOG41117JG. LUCA.
GeneTreeiENSGT00560000077240.
HOVERGENiHBG062897.
InParanoidiQ8NB59.
KOiK19328.
OMAiANCIQRM.
OrthoDBiEOG091G099X.
PhylomeDBiQ8NB59.
TreeFamiTF351132.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR028696. SYT14.
[Graphical view]
PANTHERiPTHR10024:SF209. PTHR10024:SF209. 1 hit.
PfamiPF00168. C2. 2 hits.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NB59-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAIEGGERTC GVHELICIRK VSPEAVGFLS AVGVFIILML LLFLYINKKF
60 70 80 90 100
CFENVGGFPD LGSEYSTRKN SQDKIYNSYM DKDEHGSSSE SEDEALGKYH
110 120 130 140 150
EALSRTHNSR LPLADSRQRN YAWETRQKYS PLSAEYDGYS SEASIDEGNC
160 170 180 190 200
IQRMRRTPPL DELQPPPYQD DSGSPHLSCT PSEIGDSKCE FSHCSNSPRC
210 220 230 240 250
SYNKCPSEGS TGHEIESFHN KGYEEDVPSD STAVLSPEDM SAQGSSSQLP
260 270 280 290 300
KPFDPEPEAK YGTLDVTFDY DSQEQKLLVT VTAVTDIPTY NRTGGNSWQV
310 320 330 340 350
HLVLLPIKKQ RAKTSIQRGP CPVFTETFKF NHVESEMIGN YAVRFRLYGV
360 370 380 390 400
HRMKKEKIVG EKIFYLTKLN LQGKMSLPVI LEPSYNHSGC DSQMSVSEMS
410 420 430 440 450
CSESTSSCQS LEHGSVPEIL IGLLYNATTG RLSAEVIKGS HFKNLAANRP
460 470 480 490 500
PNTYVKLTLL NSMGQEMSKC KTSIRRGQPN PVYKETFVFQ VALFQLSDVT
510 520 530 540 550
LILSVYNKRS MKRKEMIGWI SLGLNSSGEE ELNHWTEMKE SKGQQVCRWH

ALLES
Length:555
Mass (Da):62,287
Last modified:October 17, 2006 - v2
Checksum:iA7E7359DC3DEF5B9
GO
Isoform 2 (identifier: Q8NB59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     450-457: PPNTYVKL → HPMDCSVV
     458-555: Missing.

Show »
Length:457
Mass (Da):50,923
Checksum:i6921572FE920B878
GO
Isoform 3 (identifier: Q8NB59-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Show »
Length:517
Mass (Da):58,289
Checksum:i4211CBB56E0E73EC
GO
Isoform 4 (identifier: Q8NB59-4) [UniParc]FASTAAdd to basket

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

Show »
Length:265
Mass (Da):29,654
Checksum:iFC80A0B09B5DE2BD
GO
Isoform 5 (identifier: Q8NB59-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     452-452: N → TFHPLLSDGLFCCLKHLIGGQVYIIRD

Show »
Length:581
Mass (Da):65,215
Checksum:i96CAD81E55551FB5
GO
Isoform 6 (identifier: Q8NB59-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     452-452: N → NGLFCCLKHLIGGQVYIIRD

Show »
Length:574
Mass (Da):64,418
Checksum:i0DA3491777CA1FF4
GO
Isoform 7 (identifier: Q8NB59-7) [UniParc]FASTAAdd to basket

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.
Show »
Length:619
Mass (Da):69,346
Checksum:iBD9AAB3F9D5F0AE4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti195S → N in CAE85112 (PubMed:15238157).Curated1
Sequence conflicti323V → A in CAE85113 (PubMed:15238157).Curated1
Sequence conflicti514K → E in BAC76809 (PubMed:12801916).Curated1
Sequence conflicti514K → E in BAC03682 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066663138G → E.1 PublicationCorresponds to variant rs759296305dbSNPEnsembl.1
Natural variantiVAR_066664439G → 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. 1 PublicationCorresponds to variant rs387907033dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0116021 – 38Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0461241 – 20MAIEG…ICIRK → MASASWRLKVEREPVEYMNL SVLEKIGYFSVARLEYSGTI LAHCNFRLLGSNDSSASASQ VTGTT in isoform 7. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_011603299 – 303QVHLV → AVTPK in isoform 4. 1 Publication5
Alternative sequenceiVSP_011604304 – 555Missing in isoform 4. 1 PublicationAdd BLAST252
Alternative sequenceiVSP_011605450 – 457PPNTYVKL → HPMDCSVV in isoform 2. 1 Publication8
Alternative sequenceiVSP_011607452N → TFHPLLSDGLFCCLKHLIGG QVYIIRD in isoform 5. 1 Publication1
Alternative sequenceiVSP_011608452N → NGLFCCLKHLIGGQVYIIRD in isoform 6 and isoform 7. 2 Publications1
Alternative sequenceiVSP_011606458 – 555Missing in isoform 2. 1 PublicationAdd BLAST98

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31014.1. [Q8NB59-1]
CCDS53469.1. [Q8NB59-7]
CCDS53470.1. [Q8NB59-6]
CCDS58058.1. [Q8NB59-3]
RefSeqiNP_001139734.1. NM_001146262.2. [Q8NB59-6]
NP_001242935.1. NM_001256006.1. [Q8NB59-3]
NP_694994.2. NM_153262.3. [Q8NB59-1]
UniGeneiHs.658866.

Genome annotation databases

EnsembliENST00000367015; ENSP00000355982; ENSG00000143469. [Q8NB59-3]
ENST00000367019; ENSP00000355986; ENSG00000143469. [Q8NB59-6]
ENST00000399639; ENSP00000445837; ENSG00000143469. [Q8NB59-4]
ENST00000472886; ENSP00000418901; ENSG00000143469. [Q8NB59-1]
ENST00000537238; ENSP00000437423; ENSG00000143469. [Q8NB59-3]
GeneIDi255928.
KEGGihsa:255928.
UCSCiuc001hht.6. human. [Q8NB59-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31014.1. [Q8NB59-1]
CCDS53469.1. [Q8NB59-7]
CCDS53470.1. [Q8NB59-6]
CCDS58058.1. [Q8NB59-3]
RefSeqiNP_001139734.1. NM_001146262.2. [Q8NB59-6]
NP_001242935.1. NM_001256006.1. [Q8NB59-3]
NP_694994.2. NM_153262.3. [Q8NB59-1]
UniGeneiHs.658866.

3D structure databases

ProteinModelPortaliQ8NB59.
SMRiQ8NB59.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129128. 1 interactor.
STRINGi9606.ENSP00000389039.

PTM databases

iPTMnetiQ8NB59.
PhosphoSitePlusiQ8NB59.

Polymorphism and mutation databases

BioMutaiSYT14.
DMDMi116242810.

Proteomic databases

MaxQBiQ8NB59.
PaxDbiQ8NB59.
PeptideAtlasiQ8NB59.
PRIDEiQ8NB59.

Protocols and materials databases

DNASUi255928.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367015; ENSP00000355982; ENSG00000143469. [Q8NB59-3]
ENST00000367019; ENSP00000355986; ENSG00000143469. [Q8NB59-6]
ENST00000399639; ENSP00000445837; ENSG00000143469. [Q8NB59-4]
ENST00000472886; ENSP00000418901; ENSG00000143469. [Q8NB59-1]
ENST00000537238; ENSP00000437423; ENSG00000143469. [Q8NB59-3]
GeneIDi255928.
KEGGihsa:255928.
UCSCiuc001hht.6. human. [Q8NB59-1]

Organism-specific databases

CTDi255928.
DisGeNETi255928.
GeneCardsiSYT14.
HGNCiHGNC:23143. SYT14.
HPAiHPA036963.
MalaCardsiSYT14.
MIMi610949. gene.
614229. phenotype.
neXtProtiNX_Q8NB59.
OpenTargetsiENSG00000143469.
ENSG00000283619.
Orphaneti284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
PharmGKBiPA134887689.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IT3J. Eukaryota.
ENOG41117JG. LUCA.
GeneTreeiENSGT00560000077240.
HOVERGENiHBG062897.
InParanoidiQ8NB59.
KOiK19328.
OMAiANCIQRM.
OrthoDBiEOG091G099X.
PhylomeDBiQ8NB59.
TreeFamiTF351132.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143469-MONOMER.

Miscellaneous databases

ChiTaRSiSYT14. human.
GeneWikiiSYT14.
GenomeRNAii255928.
PROiQ8NB59.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143469.
CleanExiHS_SYT14.
ExpressionAtlasiQ8NB59. baseline and differential.
GenevisibleiQ8NB59. HS.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR028696. SYT14.
[Graphical view]
PANTHERiPTHR10024:SF209. PTHR10024:SF209. 1 hit.
PfamiPF00168. C2. 2 hits.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYT14_HUMAN
AccessioniPrimary (citable) accession number: Q8NB59
Secondary accession number(s): B1AJU0
, B1AJU1, F5H426, Q5THX7, Q707N3, Q707N4, Q707N5, Q707N6, Q707N7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.