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Q8NB59

- SYT14_HUMAN

UniProt

Q8NB59 - SYT14_HUMAN

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Protein

Synaptotagmin-14

Gene

SYT14

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. phospholipid binding Source: Ensembl

GO - Biological processi

  1. cell death Source: UniProtKB-KW
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:23143. SYT14.

Subcellular locationi

Membrane 1 Publication; Single-pass type III membrane protein 1 Publication
Note: Localized in perinuclear and submembranous regions.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424ExtracellularSequence AnalysisAdd
BLAST
Transmembranei25 – 4723Helical; Signal-anchor for type III membrane proteinSequence AnalysisAdd
BLAST
Topological domaini48 – 555508CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti439 – 4391G → 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 Publication
VAR_066664

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi614229. phenotype.
Orphaneti284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
PharmGKBiPA134887689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 555555Synaptotagmin-14PRO_0000183978Add
BLAST

Proteomic databases

MaxQBiQ8NB59.
PaxDbiQ8NB59.
PRIDEiQ8NB59.

PTM databases

PhosphoSiteiQ8NB59.

Expressioni

Tissue specificityi

Highly expressed in fetal and adult brain tissue.1 Publication

Gene expression databases

BgeeiQ8NB59.
CleanExiHS_SYT14.
GenevestigatoriQ8NB59.

Organism-specific databases

HPAiHPA036963.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi129128. 1 interaction.
STRINGi9606.ENSP00000418901.

Structurei

3D structure databases

ProteinModelPortaliQ8NB59.
SMRiQ8NB59. Positions 260-552.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini276 – 378103C2 1PROSITE-ProRule annotationAdd
BLAST
Domaini417 – 521105C2 2PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG305739.
GeneTreeiENSGT00560000077240.
HOVERGENiHBG062897.
InParanoidiQ8NB59.
OMAiGDSKCEF.
OrthoDBiEOG7DRJ31.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1951S → N in CAE85112. (PubMed:15238157)Curated
Sequence conflicti323 – 3231V → A in CAE85113. (PubMed:15238157)Curated
Sequence conflicti514 – 5141K → E in BAC76809. (PubMed:12801916)Curated
Sequence conflicti514 – 5141K → E in BAC03682. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381G → E.1 Publication
VAR_066663
Natural varianti439 – 4391G → 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 Publication
VAR_066664

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3838Missing in isoform 3 and isoform 4. 1 PublicationVSP_011602Add
BLAST
Alternative sequencei1 – 2020MAIEG…ICIRK → MASASWRLKVEREPVEYMNL SVLEKIGYFSVARLEYSGTI LAHCNFRLLGSNDSSASASQ VTGTT in isoform 7. 1 PublicationVSP_046124Add
BLAST
Alternative sequencei299 – 3035QVHLV → AVTPK in isoform 4. 1 PublicationVSP_011603
Alternative sequencei304 – 555252Missing in isoform 4. 1 PublicationVSP_011604Add
BLAST
Alternative sequencei450 – 4578PPNTYVKL → HPMDCSVV in isoform 2. 1 PublicationVSP_011605
Alternative sequencei452 – 4521N → TFHPLLSDGLFCCLKHLIGG QVYIIRD in isoform 5. 1 PublicationVSP_011607
Alternative sequencei452 – 4521N → NGLFCCLKHLIGGQVYIIRD in isoform 6 and isoform 7. 2 PublicationsVSP_011608
Alternative sequencei458 – 55598Missing in isoform 2. 1 PublicationVSP_011606Add
BLAST

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]
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.5. human. [Q8NB59-6]
uc009xcv.4. human. [Q8NB59-1]

Polymorphism databases

DMDMi116242810.

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.
CCDSi CCDS31014.1. [Q8NB59-1 ]
CCDS53470.1. [Q8NB59-6 ]
CCDS58058.1. [Q8NB59-3 ]
RefSeqi NP_001139734.1. NM_001146262.2. [Q8NB59-6 ]
NP_001242935.1. NM_001256006.1. [Q8NB59-3 ]
NP_694994.2. NM_153262.3. [Q8NB59-1 ]
UniGenei Hs.658866.

3D structure databases

ProteinModelPortali Q8NB59.
SMRi Q8NB59. Positions 260-552.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129128. 1 interaction.
STRINGi 9606.ENSP00000418901.

PTM databases

PhosphoSitei Q8NB59.

Polymorphism databases

DMDMi 116242810.

Proteomic databases

MaxQBi Q8NB59.
PaxDbi Q8NB59.
PRIDEi Q8NB59.

Protocols and materials databases

DNASUi 255928.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367015 ; ENSP00000355982 ; ENSG00000143469 . [Q8NB59-3 ]
ENST00000367019 ; ENSP00000355986 ; ENSG00000143469 . [Q8NB59-6 ]
ENST00000399639 ; ENSP00000445837 ; ENSG00000143469 . [Q8NB59-4 ]
ENST00000472886 ; ENSP00000418901 ; ENSG00000143469 . [Q8NB59-1 ]
ENST00000537238 ; ENSP00000437423 ; ENSG00000143469 . [Q8NB59-3 ]
GeneIDi 255928.
KEGGi hsa:255928.
UCSCi uc001hht.5. human. [Q8NB59-6 ]
uc009xcv.4. human. [Q8NB59-1 ]

Organism-specific databases

CTDi 255928.
GeneCardsi GC01P210112.
HGNCi HGNC:23143. SYT14.
HPAi HPA036963.
MIMi 610949. gene.
614229. phenotype.
neXtProti NX_Q8NB59.
Orphaneti 284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
PharmGKBi PA134887689.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305739.
GeneTreei ENSGT00560000077240.
HOVERGENi HBG062897.
InParanoidi Q8NB59.
OMAi GDSKCEF.
OrthoDBi EOG7DRJ31.
PhylomeDBi Q8NB59.
TreeFami TF351132.

Miscellaneous databases

ChiTaRSi SYT14. human.
GeneWikii SYT14.
GenomeRNAii 255928.
NextBioi 92685.
PROi Q8NB59.
SOURCEi Search...

Gene expression databases

Bgeei Q8NB59.
CleanExi HS_SYT14.
Genevestigatori Q8NB59.

Family and domain databases

Gene3Di 2.60.40.150. 2 hits.
InterProi IPR000008. C2_dom.
IPR028696. SYT14.
[Graphical view ]
PANTHERi PTHR10024:SF209. PTHR10024:SF209. 1 hit.
Pfami PF00168. C2. 2 hits.
[Graphical view ]
SMARTi SM00239. C2. 2 hits.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 2 hits.
PROSITEi PS50004. C2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., 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.

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 26, 2014
This is version 107 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

External Data

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