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Q8WU76

- SCFD2_HUMAN

UniProt

Q8WU76 - SCFD2_HUMAN

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Protein

Sec1 family domain-containing protein 2

Gene
SCFD2, STXBP1L1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

May be involved in protein transport.

GO - Biological processi

  1. protein transport Source: UniProtKB-KW
  2. vesicle docking involved in exocytosis Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Sec1 family domain-containing protein 2
Alternative name(s):
Syntaxin-binding protein 1-like 1
Gene namesi
Name:SCFD2
Synonyms:STXBP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:30676. SCFD2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134953686.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 684684Sec1 family domain-containing protein 2PRO_0000206290Add
BLAST

Proteomic databases

MaxQBiQ8WU76.
PaxDbiQ8WU76.
PRIDEiQ8WU76.

PTM databases

PhosphoSiteiQ8WU76.

Expressioni

Gene expression databases

ArrayExpressiQ8WU76.
BgeeiQ8WU76.
CleanExiHS_SCFD2.
GenevestigatoriQ8WU76.

Organism-specific databases

HPAiHPA036526.

Interactioni

Protein-protein interaction databases

BioGridi127454. 4 interactions.
IntActiQ8WU76. 1 interaction.
STRINGi9606.ENSP00000384182.

Structurei

3D structure databases

ProteinModelPortaliQ8WU76.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi120 – 1245Poly-Ala

Sequence similaritiesi

Belongs to the STXBP/unc-18/SEC1 family.

Phylogenomic databases

eggNOGiNOG75473.
HOGENOMiHOG000234008.
HOVERGENiHBG055096.
InParanoidiQ8WU76.
OMAiLQKITGC.
OrthoDBiEOG7WX07R.
PhylomeDBiQ8WU76.
TreeFamiTF329842.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
SUPFAMiSSF56815. SSF56815. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WU76-1) [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

MSASGVLSFT QQGWEQVLAK VKRAVVYLDA ACAESLHWGC GSTRLLEAVG    50
GPDCHLREFE PDAIGGGAKQ PKAVFVLSCL LKGRTVEILR DIICRSHFQY 100
CVVVTTVSHA VHLTANHVPA AAAAEMEGQQ PVFEQLEEKL CEWMGNMNYT 150
AEVFHVPLLL APVAPHFALT PAFASLFPLL PQDVHLLNSA RPDKRKLGSL 200
GDVDSTTLTP ELLLQIRCLV SGLSSLCEHL GVREECFAVG SLSQVIAADL 250
ANYAPAKNRK KTAAGRASVV FVDRTLDLTG AVGHHGDNLV EKIISALPQL 300
PGHTNDVMVN MIALTALHTE EENYNVVAPG CLSQSSDTTA KALWEALLNT 350
KHKEAVMEVR RHLVEAASRE NLPIKMSMGR VTPGQLMSYI QLFKNNLKAL 400
MNHCGLLQLG LATAQTLKHP QTAKWDNFLA FERLLLQSIG ESAMSVVLNQ 450
LLPMIKPVTQ RTNEDYSPEE LLILLIYIYS VTGELTVDKD LCEAEEKVKK 500
ALAQVFCEES GLSPLLQKIT DWDSSINLTF HKSKIAVDEL FTSLRDIAGA 550
RSLLKQFKSV YVPGNHTHQA SYKPLLKQVV EEIFHPERPD SVDIEHMSSG 600
LTDLLKTGFS MFMKVSRPHP SDYPLLILFV VGGVTVSEVK MVKDLVASLK 650
PGTQVIVLST RLLKPLNIPE LLFATDRLHP DLGF 684
Length:684
Mass (Da):75,127
Last modified:March 1, 2004 - v2
Checksum:i8CD37FAF22801CB8
GO
Isoform 2 (identifier: Q8WU76-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     570-614: Missing.

Note: No experimental confirmation available.

Show »
Length:639
Mass (Da):69,992
Checksum:i7997FAD29ABB1BD0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti512 – 5121L → S.
Corresponds to variant rs7675987 [ dbSNP | Ensembl ].
VAR_024687

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei570 – 61445Missing in isoform 2. VSP_010710Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY299407 mRNA. Translation: AAP57259.1.
AK096833 mRNA. Translation: BAC04872.1.
BC012458 mRNA. Translation: AAH12458.1.
BC021137 mRNA. Translation: AAH21137.2.
BC032453 mRNA. Translation: AAH32453.1.
CCDSiCCDS33984.1. [Q8WU76-1]
RefSeqiNP_689753.2. NM_152540.3. [Q8WU76-1]
UniGeneiHs.302287.

Genome annotation databases

EnsembliENST00000388940; ENSP00000373592; ENSG00000184178. [Q8WU76-2]
ENST00000401642; ENSP00000384182; ENSG00000184178. [Q8WU76-1]
GeneIDi152579.
KEGGihsa:152579.
UCSCiuc003gzu.3. human. [Q8WU76-1]
uc010igm.3. human. [Q8WU76-2]

Polymorphism databases

DMDMi51338675.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY299407 mRNA. Translation: AAP57259.1 .
AK096833 mRNA. Translation: BAC04872.1 .
BC012458 mRNA. Translation: AAH12458.1 .
BC021137 mRNA. Translation: AAH21137.2 .
BC032453 mRNA. Translation: AAH32453.1 .
CCDSi CCDS33984.1. [Q8WU76-1 ]
RefSeqi NP_689753.2. NM_152540.3. [Q8WU76-1 ]
UniGenei Hs.302287.

3D structure databases

ProteinModelPortali Q8WU76.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127454. 4 interactions.
IntActi Q8WU76. 1 interaction.
STRINGi 9606.ENSP00000384182.

PTM databases

PhosphoSitei Q8WU76.

Polymorphism databases

DMDMi 51338675.

Proteomic databases

MaxQBi Q8WU76.
PaxDbi Q8WU76.
PRIDEi Q8WU76.

Protocols and materials databases

DNASUi 152579.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000388940 ; ENSP00000373592 ; ENSG00000184178 . [Q8WU76-2 ]
ENST00000401642 ; ENSP00000384182 ; ENSG00000184178 . [Q8WU76-1 ]
GeneIDi 152579.
KEGGi hsa:152579.
UCSCi uc003gzu.3. human. [Q8WU76-1 ]
uc010igm.3. human. [Q8WU76-2 ]

Organism-specific databases

CTDi 152579.
GeneCardsi GC04M053739.
HGNCi HGNC:30676. SCFD2.
HPAi HPA036526.
neXtProti NX_Q8WU76.
PharmGKBi PA134953686.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG75473.
HOGENOMi HOG000234008.
HOVERGENi HBG055096.
InParanoidi Q8WU76.
OMAi LQKITGC.
OrthoDBi EOG7WX07R.
PhylomeDBi Q8WU76.
TreeFami TF329842.

Miscellaneous databases

GenomeRNAii 152579.
NextBioi 86992.
PROi Q8WU76.

Gene expression databases

ArrayExpressi Q8WU76.
Bgeei Q8WU76.
CleanExi HS_SCFD2.
Genevestigatori Q8WU76.

Family and domain databases

Gene3Di 3.40.50.1910. 2 hits.
InterProi IPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view ]
PANTHERi PTHR11679. PTHR11679. 1 hit.
Pfami PF00995. Sec1. 1 hit.
[Graphical view ]
SUPFAMi SSF56815. SSF56815. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of a syntaxin binding protein 1-like gene in human neuroblastoma."
    Weber A., Glaum A., Klinkhammer B., Bergmann E., Berwanger B., Eilers M., Christiansen H.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. "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 2).
    Tissue: Endothelial cell.
  3. "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 1).
    Tissue: Brain, Colon, Lung and Ovary.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSCFD2_HUMAN
AccessioniPrimary (citable) accession number: Q8WU76
Secondary accession number(s): Q8N5F3, Q8N8H0, Q96ED3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: March 1, 2004
Last modified: September 3, 2014
This is version 93 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 4
    Human chromosome 4: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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