SYT14_HUMAN
ID SYT14_HUMAN Reviewed; 555 AA.
AC Q8NB59; B1AJU0; B1AJU1; F5H426; Q5THX7; Q707N3; Q707N4; Q707N5; Q707N6;
AC Q707N7;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Synaptotagmin-14;
DE AltName: Full=Synaptotagmin XIV;
DE Short=SytXIV;
GN Name=SYT14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=12801916; DOI=10.1093/jb/mvg082;
RA Fukuda M.;
RT "Molecular cloning, expression, and characterization of a novel class of
RT synaptotagmin (Syt XIV) conserved from Drosophila to humans.";
RL J. Biochem. 133:641-649(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5 AND 6).
RX PubMed=15238157; DOI=10.1186/1471-2164-5-43;
RA Craxton M.A.;
RT "Synaptotagmin gene content of the sequenced genomes.";
RL BMC Genomics 5:43-43(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
RC TISSUE=Cerebellum;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT SCAR11 ASP-439, VARIANT
RP GLU-138, AND CHARACTERIZATION OF VARIANT SCAR11 ASP-439.
RX PubMed=21835308; DOI=10.1016/j.ajhg.2011.07.012;
RA Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H., Ikeda S.,
RA Kato R., Tsurusaki Y., Miyake N., Saitsu H., Sakai H., Miyatake S.,
RA Shiina M., Nukina N., Koyano S., Tsuji S., Kuroiwa Y., Matsumoto N.;
RT "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset,
RT autosomal-recessive spinocerebellar ataxia with psychomotor retardation.";
RL Am. J. Hum. Genet. 89:320-327(2011).
CC -!- FUNCTION: May be involved in the trafficking and exocytosis of
CC secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
CC -!- SUBUNIT: Homodimer. Can also form heterodimers (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q8NB59; Q93009: USP7; NbExp=2; IntAct=EBI-30843486, EBI-302474;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:21835308}; Single-
CC pass type III membrane protein {ECO:0000269|PubMed:21835308}.
CC Note=Localized in perinuclear and submembranous regions.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1;
CC IsoId=Q8NB59-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NB59-2; Sequence=VSP_011605, VSP_011606;
CC Name=3;
CC IsoId=Q8NB59-3; Sequence=VSP_011602;
CC Name=4;
CC IsoId=Q8NB59-4; Sequence=VSP_011602, VSP_011603, VSP_011604;
CC Name=5;
CC IsoId=Q8NB59-5; Sequence=VSP_011607;
CC Name=6;
CC IsoId=Q8NB59-6; Sequence=VSP_011608;
CC Name=7;
CC IsoId=Q8NB59-7; Sequence=VSP_046124, VSP_011608;
CC -!- TISSUE SPECIFICITY: Highly expressed in fetal and adult brain tissue.
CC {ECO:0000269|PubMed:21835308}.
CC -!- DISEASE: Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11)
CC [MIM:614229]: A form of spinocerebellar ataxia, a clinically and
CC genetically heterogeneous group of cerebellar disorders. Patients show
CC progressive incoordination of gait and often poor coordination of
CC hands, speech and eye movements, due to degeneration of the cerebellum
CC with variable involvement of the brainstem and spinal cord. SCAR11 is
CC associated with psychomotor retardation. {ECO:0000269|PubMed:21835308}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the synaptotagmin family. {ECO:0000305}.
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DR EMBL; AB102948; BAC76809.1; -; mRNA.
DR EMBL; AJ617623; CAE85109.1; -; mRNA.
DR EMBL; AJ617624; CAE85110.1; -; mRNA.
DR EMBL; AJ617625; CAE85111.1; -; mRNA.
DR EMBL; AJ617626; CAE85112.1; -; mRNA.
DR EMBL; AJ617627; CAE85113.1; -; mRNA.
DR EMBL; AK091517; BAC03682.1; -; mRNA.
DR EMBL; AL513263; CAI17884.1; -; Genomic_DNA.
DR EMBL; AL022397; CAI17884.1; JOINED; Genomic_DNA.
DR EMBL; AL022399; CAI17884.1; JOINED; Genomic_DNA.
DR EMBL; AL022397; CAI17887.1; -; Genomic_DNA.
DR EMBL; AL022399; CAI17887.1; JOINED; Genomic_DNA.
DR EMBL; AL513263; CAI17887.1; JOINED; Genomic_DNA.
DR EMBL; AL022397; CAI17888.1; -; Genomic_DNA.
DR EMBL; AL513263; CAI17888.1; JOINED; Genomic_DNA.
DR EMBL; AL022399; CAI17888.1; JOINED; Genomic_DNA.
DR EMBL; AL022397; CAI17889.1; -; Genomic_DNA.
DR EMBL; AL513263; CAI17889.1; JOINED; Genomic_DNA.
DR EMBL; AL022399; CAI22770.1; -; Genomic_DNA.
DR EMBL; AL513263; CAI22770.1; JOINED; Genomic_DNA.
DR EMBL; AL022397; CAI22770.1; JOINED; Genomic_DNA.
DR EMBL; AL513263; CAI17885.1; -; Genomic_DNA.
DR EMBL; AL022399; CAI17885.1; JOINED; Genomic_DNA.
DR EMBL; AL022397; CAI17885.1; JOINED; Genomic_DNA.
DR EMBL; AL513263; CAI17886.1; -; Genomic_DNA.
DR EMBL; AL022397; CAI17886.1; JOINED; Genomic_DNA.
DR EMBL; AL022399; CAI22771.1; -; Genomic_DNA.
DR EMBL; AL022397; CAI22771.1; JOINED; Genomic_DNA.
DR EMBL; AL513263; CAI22771.1; JOINED; Genomic_DNA.
DR EMBL; BC144157; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS31014.1; -. [Q8NB59-1]
DR CCDS; CCDS53469.1; -. [Q8NB59-7]
DR CCDS; CCDS53470.1; -. [Q8NB59-6]
DR CCDS; CCDS58058.1; -. [Q8NB59-3]
DR RefSeq; NP_001139734.1; NM_001146262.2. [Q8NB59-6]
DR RefSeq; NP_001242935.1; NM_001256006.1. [Q8NB59-3]
DR RefSeq; NP_694994.2; NM_153262.3. [Q8NB59-1]
DR AlphaFoldDB; Q8NB59; -.
DR SMR; Q8NB59; -.
DR BioGRID; 129128; 3.
DR IntAct; Q8NB59; 1.
DR STRING; 9606.ENSP00000355986; -.
DR iPTMnet; Q8NB59; -.
DR PhosphoSitePlus; Q8NB59; -.
DR BioMuta; SYT14; -.
DR DMDM; 116242810; -.
DR jPOST; Q8NB59; -.
DR MassIVE; Q8NB59; -.
DR MaxQB; Q8NB59; -.
DR PaxDb; Q8NB59; -.
DR PeptideAtlas; Q8NB59; -.
DR PRIDE; Q8NB59; -.
DR Antibodypedia; 51697; 32 antibodies from 15 providers.
DR DNASU; 255928; -.
DR Ensembl; ENST00000367015.5; ENSP00000355982.1; ENSG00000143469.20. [Q8NB59-3]
DR Ensembl; ENST00000367019.5; ENSP00000355986.1; ENSG00000143469.20. [Q8NB59-6]
DR Ensembl; ENST00000399639.6; ENSP00000445837.2; ENSG00000143469.20. [Q8NB59-4]
DR Ensembl; ENST00000472886.5; ENSP00000418901.1; ENSG00000143469.20. [Q8NB59-1]
DR Ensembl; ENST00000537238.5; ENSP00000437423.1; ENSG00000143469.20. [Q8NB59-3]
DR GeneID; 255928; -.
DR KEGG; hsa:255928; -.
DR MANE-Select; ENST00000367019.6; ENSP00000355986.1; NM_001146262.4; NP_001139734.1. [Q8NB59-6]
DR UCSC; uc001hht.6; human. [Q8NB59-1]
DR CTD; 255928; -.
DR DisGeNET; 255928; -.
DR GeneCards; SYT14; -.
DR HGNC; HGNC:23143; SYT14.
DR HPA; ENSG00000143469; Group enriched (brain, retina, testis, thyroid gland).
DR MalaCards; SYT14; -.
DR MIM; 610949; gene.
DR MIM; 614229; phenotype.
DR neXtProt; NX_Q8NB59; -.
DR OpenTargets; ENSG00000143469; -.
DR Orphanet; 284271; Autosomal recessive cerebellar ataxia-psychomotor delay syndrome.
DR PharmGKB; PA134887689; -.
DR VEuPathDB; HostDB:ENSG00000143469; -.
DR eggNOG; KOG1028; Eukaryota.
DR GeneTree; ENSGT00940000159420; -.
DR HOGENOM; CLU_1049555_0_0_1; -.
DR InParanoid; Q8NB59; -.
DR OMA; MTFLFWY; -.
DR PhylomeDB; Q8NB59; -.
DR TreeFam; TF351132; -.
DR PathwayCommons; Q8NB59; -.
DR BioGRID-ORCS; 255928; 14 hits in 1069 CRISPR screens.
DR ChiTaRS; SYT14; human.
DR GeneWiki; SYT14; -.
DR GenomeRNAi; 255928; -.
DR Pharos; Q8NB59; Tbio.
DR PRO; PR:Q8NB59; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NB59; protein.
DR Bgee; ENSG00000143469; Expressed in cortical plate and 65 other tissues.
DR ExpressionAtlas; Q8NB59; baseline and differential.
DR Genevisible; Q8NB59; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005543; F:phospholipid binding; IBA:GO_Central.
DR Gene3D; 2.60.40.150; -; 2.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR028696; SYT14.
DR InterPro; IPR043541; SYT14/14L/16.
DR PANTHER; PTHR46129; PTHR46129; 1.
DR PANTHER; PTHR46129:SF3; PTHR46129:SF3; 1.
DR Pfam; PF00168; C2; 2.
DR SMART; SM00239; C2; 2.
DR SUPFAM; SSF49562; SSF49562; 2.
DR PROSITE; PS50004; C2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Membrane; Neurodegeneration;
KW Reference proteome; Repeat; Signal-anchor; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..555
FT /note="Synaptotagmin-14"
FT /id="PRO_0000183978"
FT TOPO_DOM 1..24
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 25..47
FT /note="Helical; Signal-anchor for type III membrane
FT protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 48..555
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 260..379
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 415..550
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 157..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 222..257
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 234..250
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..38
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011602"
FT VAR_SEQ 1..20
FT /note="MAIEGGERTCGVHELICIRK -> MASASWRLKVEREPVEYMNLSVLEKIGY
FT FSVARLEYSGTILAHCNFRLLGSNDSSASASQVTGTT (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046124"
FT VAR_SEQ 299..303
FT /note="QVHLV -> AVTPK (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011603"
FT VAR_SEQ 304..555
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011604"
FT VAR_SEQ 450..457
FT /note="PPNTYVKL -> HPMDCSVV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011605"
FT VAR_SEQ 452
FT /note="N -> TFHPLLSDGLFCCLKHLIGGQVYIIRD (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011607"
FT VAR_SEQ 452
FT /note="N -> NGLFCCLKHLIGGQVYIIRD (in isoform 6 and isoform
FT 7)"
FT /evidence="ECO:0000303|PubMed:15238157,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_011608"
FT VAR_SEQ 458..555
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15238157"
FT /id="VSP_011606"
FT VARIANT 138
FT /note="G -> E (in dbSNP:rs759296305)"
FT /evidence="ECO:0000269|PubMed:21835308"
FT /id="VAR_066663"
FT VARIANT 439
FT /note="G -> D (in SCAR11; shows intracellular localization
FT different from that of the wild-type protein; forms a
FT reticular pattern in the cytoplasm; does not show
FT submembranous distribution; is abnormally retained in the
FT endoplasmic reticulum consistent to improper folding;
FT dbSNP:rs387907033)"
FT /evidence="ECO:0000269|PubMed:21835308"
FT /id="VAR_066664"
FT CONFLICT 195
FT /note="S -> N (in Ref. 2; CAE85112)"
FT /evidence="ECO:0000305"
FT CONFLICT 323
FT /note="V -> A (in Ref. 2; CAE85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 514
FT /note="K -> E (in Ref. 1; BAC76809 and 3; BAC03682)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 555 AA; 62287 MW; A7E7359DC3DEF5B9 CRC64;
MAIEGGERTC GVHELICIRK VSPEAVGFLS AVGVFIILML LLFLYINKKF CFENVGGFPD
LGSEYSTRKN SQDKIYNSYM DKDEHGSSSE SEDEALGKYH EALSRTHNSR LPLADSRQRN
YAWETRQKYS PLSAEYDGYS SEASIDEGNC IQRMRRTPPL DELQPPPYQD DSGSPHLSCT
PSEIGDSKCE FSHCSNSPRC SYNKCPSEGS TGHEIESFHN KGYEEDVPSD STAVLSPEDM
SAQGSSSQLP KPFDPEPEAK YGTLDVTFDY DSQEQKLLVT VTAVTDIPTY NRTGGNSWQV
HLVLLPIKKQ RAKTSIQRGP CPVFTETFKF NHVESEMIGN YAVRFRLYGV HRMKKEKIVG
EKIFYLTKLN LQGKMSLPVI LEPSYNHSGC DSQMSVSEMS CSESTSSCQS LEHGSVPEIL
IGLLYNATTG RLSAEVIKGS HFKNLAANRP PNTYVKLTLL NSMGQEMSKC KTSIRRGQPN
PVYKETFVFQ VALFQLSDVT LILSVYNKRS MKRKEMIGWI SLGLNSSGEE ELNHWTEMKE
SKGQQVCRWH ALLES
