LOCUS       NM_016106               2190 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens sec1 family domain containing 1 (SCFD1), transcript
            variant 1, mRNA.
ACCESSION   NM_016106 NM_016163
VERSION     NM_016106.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2190)
  AUTHORS   Siokas,V., Aloizou,A.M., Liampas,I., Bakirtzis,C., Nasios,G.,
            Paterakis,K., Sgantzos,M., Bogdanos,D.P., Spandidos,D.A.,
            Tsatsakis,A., Mitsias,P.D. and Dardiotis,E.
  TITLE     Lack of an association between SCFD1 rs10139154 polymorphism and
            amyotrophic lateral sclerosis
  JOURNAL   Mol Med Rep 25 (4) (2022)
   PUBMED   35234271
  REMARK    GeneRIF: Lack of an association between SCFD1 rs10139154
            polymorphism and amyotrophic lateral sclerosis.
REFERENCE   2  (bases 1 to 2190)
  AUTHORS   Huang,H., Ouyang,Q., Zhu,M., Yu,H., Mei,K. and Liu,R.
  TITLE     mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates
            autophagosome maturation
  JOURNAL   Nat Commun 12 (1), 6622 (2021)
   PUBMED   34785650
  REMARK    GeneRIF: mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates
            autophagosome maturation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2190)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2190)
  AUTHORS   Stamati,P., Siokas,V., Aloizou,A.M., Karampinis,E., Arseniou,S.,
            Rakitskii,V.N., Tsatsakis,A., Spandidos,D.A., Gozes,I.,
            Mitsias,P.D., Bogdanos,D.P., Hadjigeorgiou,G.M. and Dardiotis,E.
  TITLE     Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease
            Risk?
  JOURNAL   J Mol Neurosci 69 (2), 343-350 (2019)
   PUBMED   31267315
  REMARK    GeneRIF: SCFD1 rs10139154 is associated with a decreased risk of
            developing Alzheimer disease.
REFERENCE   5  (bases 1 to 2190)
  AUTHORS   Chen,Y., Zhou,Q., Gu,X., Wei,Q., Cao,B., Liu,H., Hou,Y. and
            Shang,H.
  TITLE     An association study between SCFD1 rs10139154 variant and
            amyotrophic lateral sclerosis in a Chinese cohort
  JOURNAL   Amyotroph Lateral Scler Frontotemporal Degener 19 (5-6), 413-418
            (2018)
   PUBMED   29260601
  REMARK    GeneRIF: The found of this study confirmed the lack of association
            of SCFD1 rs10139154 with the risk for ALS in a large Chinese
            population.
REFERENCE   6  (bases 1 to 2190)
  AUTHORS   Bando,Y., Katayama,T., Taniguchi,M., Ishibashi,T., Matsuo,N.,
            Ogawa,S. and Tohyama,M.
  TITLE     RA410/Sly1 suppresses MPP+ and 6-hydroxydopamine-induced cell death
            in SH-SY5Y cells
  JOURNAL   Neurobiol Dis 18 (1), 143-151 (2005)
   PUBMED   15649705
REFERENCE   7  (bases 1 to 2190)
  AUTHORS   Williams,A.L., Ehm,S., Jacobson,N.C., Xu,D. and Hay,J.C.
  TITLE     rsly1 binding to syntaxin 5 is required for endoplasmic
            reticulum-to-Golgi transport but does not promote SNARE motif
            accessibility
  JOURNAL   Mol Biol Cell 15 (1), 162-175 (2004)
   PUBMED   14565970
REFERENCE   8  (bases 1 to 2190)
  AUTHORS   Dulubova,I., Yamaguchi,T., Arac,D., Li,H., Huryeva,I., Min,S.W.,
            Rizo,J. and Sudhof,T.C.
  TITLE     Convergence and divergence in the mechanism of SNARE binding by
            Sec1/Munc18-like proteins
  JOURNAL   Proc Natl Acad Sci U S A 100 (1), 32-37 (2003)
   PUBMED   12506202
REFERENCE   9  (bases 1 to 2190)
  AUTHORS   Matsuo,N., Ogawa,S., Takagi,T., Wanaka,A., Mori,T., Matsuyama,T.,
            Pinsky,D.J., Stern,D.M. and Tohyama,M.
  TITLE     Cloning of a putative vesicle transport-related protein, RA410,
            from cultured rat astrocytes and its expression in ischemic rat
            brain
  JOURNAL   J Biol Chem 272 (26), 16438-16444 (1997)
   PUBMED   9195952
REFERENCE   10 (bases 1 to 2190)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB020724.2, BG212062.1 and AL121852.3.
            
            On May 17, 2019 this sequence version replaced NM_016106.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB020724.2, AK290410.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000458591.7/ ENSP00000390783.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2135              AB020724.2         1-2135
            2136-2168           BG212062.1         296-328
            2169-2190           AL121852.3         50520-50541         c
FEATURES             Location/Qualifiers
     source          1..2190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2190
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /note="sec1 family domain containing 1"
                     /db_xref="GeneID:23256"
                     /db_xref="HGNC:HGNC:20726"
                     /db_xref="MIM:618207"
     exon            1..81
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1949
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /note="isoform a is encoded by transcript variant 1;
                     vesicle transport-related protein; sec1 family
                     domain-containing protein 1; syntaxin-binding protein
                     1-like 2"
                     /codon_start=1
                     /product="sec1 family domain-containing protein 1 isoform
                     a"
                     /protein_id="NP_057190.2"
                     /db_xref="CCDS:CCDS9639.1"
                     /db_xref="GeneID:23256"
                     /db_xref="HGNC:HGNC:20726"
                     /db_xref="MIM:618207"
                     /translation="MAAAAAATAAAAASIRERQTVALKRMLNFNVPHIKNSTGEPVWK
                     VLIYDRFGQDIISPLLSVKELRDMGITLHLLLHSDRDPIPDVPAVYFVMPTEENIDRM
                     CQDLRNQLYESYYLNFISAISRSKLEDIANAALAASAVTQVAKVFDQYLNFITLEDDM
                     FVLCNQNKELVSYRAINRPDITDTEMETVMDTIVDSLFCFFVTLGAVPIIRCSRGTAA
                     EMVAVKLDKKLRENLRDARNSLFTGDTLGAGQFSFQRPLLVLVDRNIDLATPLHHTWT
                     YQALVHDVLDFHLNRVNLEESSGVENSPAGARPKRKNKKSYDLTPVDKFWQKHKGSPF
                     PEVAESVQQELESYRAQEDEVKRLKSIMGLEGEDEGAISMLSDNTAKLTSAVSSLPEL
                     LEKKRLIDLHTNVATAVLEHIKARKLDVYFEYEEKIMSKTTLDKSLLDIISDPDAGTP
                     EDKMRLFLIYYISTQQAPSEADLEQYKKALTDAGCNLNPLQYIKQWKAFTKMASAPAS
                     YGSTTTKPMGLLSRVMNTGSQFVMEGVKNLVLKQQNLPVTRILDNLMEMKSNPETDDY
                     RYFDPKMLRGNDSSVPRNKNPFQEAIVFVVGGGNYIEYQNLVDYIKGKQGKHILYGCS
                     ELFNATQFIKQLSQLGQK"
     exon            82..152
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            153..241
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            242..332
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            333..455
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            456..543
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            544..633
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            634..689
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            690..775
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            776..875
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1015
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1106
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1180
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1262
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1359
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1430
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1510
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1573
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1649
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1703
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1756
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1790
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..1856
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1857..1925
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2190
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /note="hexamer: AATAAA"
     polyA_site      2139
                     /gene="SCFD1"
                     /gene_synonym="C14orf163; RA410; SLY1; SLY1P; STXBP1L2"
                     /note="major polyA site"
ORIGIN      
        1 agtggctcgt gggagccaag atggcggcgg cggcggcagc gacagcagca gcagcagcca
       61 gtattcggga aaggcagaca gtggctttga agcgtatgtt gaatttcaat gtgcctcata
      121 ttaaaaacag cacaggagaa ccagtatgga aggtactcat ttatgacaga tttggccaag
      181 atataatctc tcctctgcta tctgtgaagg agctaagaga catgggaatc actctgcatc
      241 tgcttttaca ctctgatcga gatcctattc cagatgttcc tgcagtatac tttgtaatgc
      301 caactgaaga aaatattgac agaatgtgcc aggatcttcg aaatcaacta tatgaatcat
      361 attatttaaa ttttatttct gctatttcaa gaagtaaact ggaagatatt gcaaatgcag
      421 cgttagcagc tagtgcagta acacaagtag ccaaggtttt tgaccaatat ctcaatttta
      481 ttactttgga agatgatatg tttgtattat gtaatcaaaa taaggagctt gtttcatatc
      541 gtgccattaa caggccagat atcacagaca cggaaatgga aactgttatg gacactatag
      601 ttgacagcct cttctgcttt tttgttactc tgggtgctgt tcctataatc agatgttcaa
      661 gaggaacagc agcagaaatg gtagcagtga aactagacaa gaaacttcga gaaaatctaa
      721 gagatgcaag aaacagtctt tttacaggtg atacacttgg agctggccaa ttcagcttcc
      781 agaggccctt attagtcctt gttgacagaa acatagattt ggcaactcct ttacatcata
      841 cttggacata tcaagcattg gtgcacgatg tactggattt ccatttaaac agggttaatt
      901 tggaagaatc ttcaggagtg gaaaactctc cagctggtgc tagaccaaag agaaaaaaca
      961 agaagtctta tgatttaact ccggttgata aattttggca aaaacataaa ggaagtccat
     1021 tcccagaagt tgcagaatca gttcagcaag aactagaatc ttacagagca caggaagatg
     1081 aggtcaaacg acttaaaagc attatgggac tagaagggga agatgaagga gccataagta
     1141 tgctttctga caataccgct aagctaacat cagctgttag ttctttgcca gaactccttg
     1201 agaaaaaaag acttattgat ctccatacaa atgttgccac tgctgtttta gaacatataa
     1261 aggcaagaaa attggatgta tattttgaat atgaagaaaa aataatgagc aaaactactc
     1321 tggataaatc tcttctagat ataatatcag accctgatgc aggaactcca gaagataaaa
     1381 tgaggttgtt tcttatctat tatataagca cacagcaagc accttctgag gctgatttgg
     1441 agcaatataa aaaagcttta actgatgcag gatgcaacct taatccttta caatatatca
     1501 aacagtggaa ggcttttacc aagatggcct cagctccggc cagctatggc agcactacca
     1561 ctaaaccaat gggtctttta tcacgagtca tgaatacagg atcacagttt gtgatggaag
     1621 gagtgaagaa cctggttttg aaacagcaaa atctacctgt tactcgtatt ttggacaatc
     1681 ttatggagat gaagtcaaac cccgaaactg atgactatag atattttgat cccaaaatgc
     1741 tgcggggcaa tgacagctca gttcccagaa ataaaaatcc attccaagag gccattgttt
     1801 ttgtggtggg aggaggcaac tacattgaat atcagaatct tgttgactac ataaagggga
     1861 aacaaggcaa acacatttta tatggctgca gtgagctttt taatgctaca cagttcataa
     1921 aacagttgtc acaacttgga caaaagtaac acagaagaac cttactatga taatctactt
     1981 ggaatgtgga taaatgtaaa aagaagaaaa gttagaagag caatatgttt ccttctctgt
     2041 aacagtgtcc taacagtgaa aatcagagtt atttgttaat ttttaaggaa attatatact
     2101 taatatgtat tgattaaaag aaacatttca gaaataaaat ttcaacattg ttcattttct
     2161 ctgataaatc agaaagtact aatataataa
//
