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 24-JAN-2024, entry version 162. 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 -!- 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 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; 4. DR IntAct; Q8NB59; 1. DR STRING; 9606.ENSP00000486230; -. DR iPTMnet; Q8NB59; -. DR PhosphoSitePlus; Q8NB59; -. DR BioMuta; SYT14; -. DR DMDM; 116242810; -. DR jPOST; Q8NB59; -. DR MassIVE; Q8NB59; -. DR MaxQB; Q8NB59; -. DR PaxDb; 9606-ENSP00000355986; -. DR PeptideAtlas; Q8NB59; -. DR Antibodypedia; 51697; 33 antibodies from 15 providers. DR DNASU; 255928; -. DR Ensembl; ENST00000367015.5; ENSP00000355982.1; ENSG00000143469.21. [Q8NB59-3] DR Ensembl; ENST00000367019.6; ENSP00000355986.1; ENSG00000143469.21. [Q8NB59-6] DR Ensembl; ENST00000399639.6; ENSP00000445837.2; ENSG00000143469.21. [Q8NB59-4] DR Ensembl; ENST00000472886.5; ENSP00000418901.1; ENSG00000143469.21. [Q8NB59-1] DR Ensembl; ENST00000537238.5; ENSP00000437423.1; ENSG00000143469.21. [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 AGR; HGNC:23143; -. DR CTD; 255928; -. DR DisGeNET; 255928; -. DR GeneCards; SYT14; -. DR HGNC; HGNC:23143; SYT14. DR HPA; ENSG00000143469; Tissue enhanced (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 OrthoDB; 2875354at2759; -. DR PhylomeDB; Q8NB59; -. DR TreeFam; TF351132; -. DR PathwayCommons; Q8NB59; -. DR BioGRID-ORCS; 255928; 15 hits in 1146 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 male germ line stem cell (sensu Vertebrata) in testis and 66 other cell types or tissues. DR ExpressionAtlas; Q8NB59; baseline and differential. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005543; F:phospholipid binding; IBA:GO_Central. DR CDD; cd08389; C2A_Synaptotagmin-14_16; 1. DR CDD; cd08408; C2B_Synaptotagmin-14_16; 1. DR Gene3D; 2.60.40.150; C2 domain; 2. DR InterPro; IPR000008; C2_dom. DR InterPro; IPR035892; C2_domain_sf. DR InterPro; IPR043541; SYT14/14L/16. DR PANTHER; PTHR46129; SYNAPTOTAGMIN 14, ISOFORM D; 1. DR PANTHER; PTHR46129:SF3; SYNAPTOTAGMIN-14-RELATED; 1. DR Pfam; PF00168; C2; 2. DR SMART; SM00239; C2; 2. DR SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 2. DR PROSITE; PS50004; C2; 2. DR Genevisible; Q8NB59; HS. 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 //