SYT14

Protein identityUniProt · HPA

UniProt accession

Q8NB59

Gene

SYT14

Ensembl

ENSG00000143469

Chromosome

1

Canonical length

555 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

555 residues, UniProt reviewed canonical sequence.

>Q8NB59|SYT14
     1  MAIEGGERTC GVHELICIRK VSPEAVGFLS AVGVFIILML LLFLYINKKF CFENVGGFPD
    61  LGSEYSTRKN SQDKIYNSYM DKDEHGSSSE SEDEALGKYH EALSRTHNSR LPLADSRQRN
   121  YAWETRQKYS PLSAEYDGYS SEASIDEGNC IQRMRRTPPL DELQPPPYQD DSGSPHLSCT
   181  PSEIGDSKCE FSHCSNSPRC SYNKCPSEGS TGHEIESFHN KGYEEDVPSD STAVLSPEDM
   241  SAQGSSSQLP KPFDPEPEAK YGTLDVTFDY DSQEQKLLVT VTAVTDIPTY NRTGGNSWQV
   301  HLVLLPIKKQ RAKTSIQRGP CPVFTETFKF NHVESEMIGN YAVRFRLYGV HRMKKEKIVG
   361  EKIFYLTKLN LQGKMSLPVI LEPSYNHSGC DSQMSVSEMS CSESTSSCQS LEHGSVPEIL
   421  IGLLYNATTG RLSAEVIKGS HFKNLAANRP PNTYVKLTLL NSMGQEMSKC KTSIRRGQPN
   481  PVYKETFVFQ VALFQLSDVT LILSVYNKRS MKRKEMIGWI SLGLNSSGEE ELNHWTEMKE
   541  SKGQQVCRWH ALLES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SYT14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

5.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SYT14.

Disease | AllUniProt

Conditions SYT14 is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) MIM:614229

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 137 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive spinocerebellar ataxia 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.34

gnomAD pLI

0.94

gnomAD missense Z

1.33

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

• identical protein binding
• phospholipid binding

Cellular components

• membrane

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• C2 domain superfamily
• Synaptotagmin-14/14L/16
• C2 domain

KeywordsUniProt

• Membrane
• Neurodegeneration
• Repeat
• Signal-anchor
• Transmembrane
• Transmembrane helix