ID   SCFD2_HUMAN             Reviewed;         684 AA.
AC   Q8WU76; Q8N5F3; Q8N8H0; Q96ED3;
DT   05-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2004, sequence version 2.
DT   03-AUG-2022, entry version 143.
DE   RecName: Full=Sec1 family domain-containing protein 2;
DE   AltName: Full=Syntaxin-binding protein 1-like 1;
GN   Name=SCFD2; Synonyms=STXBP1L1;
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).
RC   TISSUE=Fetal brain;
RA   Weber A., Glaum A., Klinkhammer B., Bergmann E., Berwanger B., Eilers M.,
RA   Christiansen H.;
RT   "Expression of a syntaxin binding protein 1-like gene in human
RT   neuroblastoma.";
RL   Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Endothelial cell;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain, Colon, Lung, and Ovary;
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   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
CC   -!- FUNCTION: May be involved in protein transport.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8WU76-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8WU76-2; Sequence=VSP_010710;
CC   -!- SIMILARITY: Belongs to the STXBP/unc-18/SEC1 family. {ECO:0000305}.
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DR   EMBL; AY299407; AAP57259.1; -; mRNA.
DR   EMBL; AK096833; BAC04872.1; -; mRNA.
DR   EMBL; BC012458; AAH12458.1; -; mRNA.
DR   EMBL; BC021137; AAH21137.2; -; mRNA.
DR   EMBL; BC032453; AAH32453.1; -; mRNA.
DR   CCDS; CCDS33984.1; -. [Q8WU76-1]
DR   RefSeq; NP_689753.2; NM_152540.3. [Q8WU76-1]
DR   AlphaFoldDB; Q8WU76; -.
DR   BioGRID; 127454; 43.
DR   IntAct; Q8WU76; 16.
DR   STRING; 9606.ENSP00000384182; -.
DR   iPTMnet; Q8WU76; -.
DR   PhosphoSitePlus; Q8WU76; -.
DR   BioMuta; SCFD2; -.
DR   DMDM; 51338675; -.
DR   EPD; Q8WU76; -.
DR   jPOST; Q8WU76; -.
DR   MassIVE; Q8WU76; -.
DR   MaxQB; Q8WU76; -.
DR   PaxDb; Q8WU76; -.
DR   PeptideAtlas; Q8WU76; -.
DR   PRIDE; Q8WU76; -.
DR   ProteomicsDB; 74640; -. [Q8WU76-1]
DR   ProteomicsDB; 74641; -. [Q8WU76-2]
DR   Antibodypedia; 23902; 81 antibodies from 20 providers.
DR   DNASU; 152579; -.
DR   Ensembl; ENST00000388940.8; ENSP00000373592.4; ENSG00000184178.17. [Q8WU76-2]
DR   Ensembl; ENST00000401642.8; ENSP00000384182.3; ENSG00000184178.17. [Q8WU76-1]
DR   GeneID; 152579; -.
DR   KEGG; hsa:152579; -.
DR   MANE-Select; ENST00000401642.8; ENSP00000384182.3; NM_152540.4; NP_689753.2.
DR   UCSC; uc003gzu.4; human. [Q8WU76-1]
DR   CTD; 152579; -.
DR   DisGeNET; 152579; -.
DR   GeneCards; SCFD2; -.
DR   HGNC; HGNC:30676; SCFD2.
DR   HPA; ENSG00000184178; Low tissue specificity.
DR   neXtProt; NX_Q8WU76; -.
DR   OpenTargets; ENSG00000184178; -.
DR   PharmGKB; PA134953686; -.
DR   VEuPathDB; HostDB:ENSG00000184178; -.
DR   eggNOG; ENOG502QQIB; Eukaryota.
DR   GeneTree; ENSGT00390000011192; -.
DR   HOGENOM; CLU_027230_1_0_1; -.
DR   InParanoid; Q8WU76; -.
DR   OMA; CPFSPRV; -.
DR   OrthoDB; 277043at2759; -.
DR   PhylomeDB; Q8WU76; -.
DR   TreeFam; TF329842; -.
DR   PathwayCommons; Q8WU76; -.
DR   SignaLink; Q8WU76; -.
DR   BioGRID-ORCS; 152579; 16 hits in 1075 CRISPR screens.
DR   ChiTaRS; SCFD2; human.
DR   GenomeRNAi; 152579; -.
DR   Pharos; Q8WU76; Tdark.
DR   PRO; PR:Q8WU76; -.
DR   Proteomes; UP000005640; Chromosome 4.
DR   RNAct; Q8WU76; protein.
DR   Bgee; ENSG00000184178; Expressed in pancreatic ductal cell and 192 other tissues.
DR   ExpressionAtlas; Q8WU76; baseline and differential.
DR   Genevisible; Q8WU76; HS.
DR   GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR   GO; GO:0030141; C:secretory granule; IBA:GO_Central.
DR   GO; GO:0019905; F:syntaxin binding; IBA:GO_Central.
DR   GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR   GO; GO:0006904; P:vesicle docking involved in exocytosis; IBA:GO_Central.
DR   GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR   Gene3D; 3.40.50.1910; -; 1.
DR   InterPro; IPR001619; Sec1-like.
DR   InterPro; IPR027482; Sec1-like_dom2.
DR   InterPro; IPR036045; Sec1-like_sf.
DR   PANTHER; PTHR11679; PTHR11679; 1.
DR   Pfam; PF00995; Sec1; 1.
DR   SUPFAM; SSF56815; SSF56815; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Protein transport; Reference proteome; Transport.
FT   CHAIN           1..684
FT                   /note="Sec1 family domain-containing protein 2"
FT                   /id="PRO_0000206290"
FT   VAR_SEQ         570..614
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010710"
FT   VARIANT         512
FT                   /note="L -> S (in dbSNP:rs7675987)"
FT                   /id="VAR_024687"
SQ   SEQUENCE   684 AA;  75127 MW;  8CD37FAF22801CB8 CRC64;
     MSASGVLSFT QQGWEQVLAK VKRAVVYLDA ACAESLHWGC GSTRLLEAVG GPDCHLREFE
     PDAIGGGAKQ PKAVFVLSCL LKGRTVEILR DIICRSHFQY CVVVTTVSHA VHLTANHVPA
     AAAAEMEGQQ PVFEQLEEKL CEWMGNMNYT AEVFHVPLLL APVAPHFALT PAFASLFPLL
     PQDVHLLNSA RPDKRKLGSL GDVDSTTLTP ELLLQIRCLV SGLSSLCEHL GVREECFAVG
     SLSQVIAADL ANYAPAKNRK KTAAGRASVV FVDRTLDLTG AVGHHGDNLV EKIISALPQL
     PGHTNDVMVN MIALTALHTE EENYNVVAPG CLSQSSDTTA KALWEALLNT KHKEAVMEVR
     RHLVEAASRE NLPIKMSMGR VTPGQLMSYI QLFKNNLKAL MNHCGLLQLG LATAQTLKHP
     QTAKWDNFLA FERLLLQSIG ESAMSVVLNQ LLPMIKPVTQ RTNEDYSPEE LLILLIYIYS
     VTGELTVDKD LCEAEEKVKK ALAQVFCEES GLSPLLQKIT DWDSSINLTF HKSKIAVDEL
     FTSLRDIAGA RSLLKQFKSV YVPGNHTHQA SYKPLLKQVV EEIFHPERPD SVDIEHMSSG
     LTDLLKTGFS MFMKVSRPHP SDYPLLILFV VGGVTVSEVK MVKDLVASLK PGTQVIVLST
     RLLKPLNIPE LLFATDRLHP DLGF