Q8NB59 (SYT14_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 92.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Synaptotagmin-14 Alternative name(s): Synaptotagmin XIV Short name=SytXIV | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 555 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
| Sequence similarities | Belongs to the synaptotagmin family. Contains 2 C2 domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Neurodegeneration |
| Domain | Repeat Signal-anchor Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell death Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 555 | 555 | Synaptotagmin-14 | PRO_0000183978 | |||||
Regions | |||||||||
| Topological domain | 1 – 24 | 24 | Extracellular Potential | ||||||
| Transmembrane | 25 – 47 | 23 | Helical; Signal-anchor for type III membrane protein; Potential | ||||||
| Topological domain | 48 – 555 | 508 | Cytoplasmic Potential | ||||||
| Domain | 276 – 378 | 103 | C2 1 | ||||||
| Domain | 417 – 521 | 105 | C2 2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 38 | 38 | Missing in isoform 3 and isoform 4. | VSP_011602 | |||||
| Alternative sequence | 1 – 20 | 20 | MAIEG…ICIRK → MASASWRLKVEREPVEYMNL SVLEKIGYFSVARLEYSGTI LAHCNFRLLGSNDSSASASQ VTGTT in isoform 7. | VSP_046124 | |||||
| Alternative sequence | 299 – 303 | 5 | QVHLV → AVTPK in isoform 4. | VSP_011603 | |||||
| Alternative sequence | 304 – 555 | 252 | Missing in isoform 4. | VSP_011604 | |||||
| Alternative sequence | 450 – 457 | 8 | PPNTYVKL → HPMDCSVV in isoform 2. | VSP_011605 | |||||
| Alternative sequence | 452 | 1 | N → TFHPLLSDGLFCCLKHLIGG QVYIIRD in isoform 5. | VSP_011607 | |||||
| Alternative sequence | 452 | 1 | N → NGLFCCLKHLIGGQVYIIRD in isoform 6 and isoform 7. | VSP_011608 | |||||
| Alternative sequence | 458 – 555 | 98 | Missing in isoform 2. | VSP_011606 | |||||
| Natural variant | 138 | 1 | G → E. Ref.6 | VAR_066663 | |||||
| Natural variant | 439 | 1 | G → 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 conflict | 195 | 1 | S → N in CAE85112. Ref.2 | ||||||
| Sequence conflict | 323 | 1 | V → A in CAE85113. Ref.2 | ||||||
| Sequence conflict | 514 | 1 | K → E in BAC76809. Ref.1 | ||||||
| Sequence conflict | 514 | 1 | K → E in BAC03682. Ref.3 | ||||||
Sequences
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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. 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. 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. |
| IPI | IPI00168143. IPI00470677. IPI00470678. IPI00470679. IPI00470681. IPI00844485. IPI01010442. |
| RefSeq | NP_001139734.1. NM_001146262.2. NP_001242935.1. NM_001256006.1. NP_694994.2. NM_153262.3. |
| UniGene | Hs.658866. |
3D structure databases | |
| ProteinModelPortal | Q8NB59. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000418901. |
PTM databases | |
| PhosphoSite | Q8NB59. |
Polymorphism databases | |
| DMDM | 116242810. |
Proteomic databases | |
| PaxDb | Q8NB59. |
| PRIDE | Q8NB59. |
Protocols and materials databases | |
| DNASU | 255928. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367015; ENSP00000355982; ENSG00000143469. ENST00000367019; ENSP00000355986; ENSG00000143469. ENST00000422431; ENSP00000389039; ENSG00000143469. ENST00000472886; ENSP00000418901; ENSG00000143469. ENST00000534859; ENSP00000442891; ENSG00000143469. ENST00000537238; ENSP00000437423; ENSG00000143469. |
| GeneID | 255928. |
| KEGG | hsa:255928. |
| UCSC | uc001hht.4. human. uc009xcv.3. human. |
Organism-specific databases | |
| CTD | 255928. |
| GeneCards | GC01P210112. |
| HGNC | HGNC:23143. SYT14. |
| HPA | HPA036963. |
| MIM | 610949. gene. 614229. phenotype. |
| neXtProt | NX_Q8NB59. |
| Orphanet | 284271. Autosomal recessive cerebellar ataxia - psychomotor retardation. |
| PharmGKB | PA134887689. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG305739. |
| HOVERGEN | HBG062897. |
Gene expression databases | |
| ArrayExpress | Q8NB59. |
| Bgee | Q8NB59. |
| CleanEx | HS_SYT14. |
| Genevestigator | Q8NB59. |
| GermOnline | ENSG00000143469. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. [Graphical view] |
| Pfam | PF00168. C2. 2 hits. [Graphical view] |
| SMART | SM00239. C2. 2 hits. [Graphical view] |
| SUPFAM | SSF49562. C2_CaLB. 2 hits. |
| PROSITE | PS50004. C2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 255928. |
| NextBio | 92685. |
| SOURCE | Search... |
Entry information
| Entry name | SYT14_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NB59 Secondary accession number(s): B1AJU0 Q707N7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
