SCFD1 (sec1 family domain containing 1)

Gene

• Entrez ID: 23256
• Gene name: Sec1 family domain containing 1
• Gene symbol: SCFD1
• Synonyms (NCBI Gene): C14orf163, RA410, SLY1, SLY1P, STXBP1L2
• Chromosome: 14
• Chromosome location: 14q12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044947	hsa-miR-186-5p	CLASH	23622248
MIRT439700	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439700	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT2097660	hsa-miR-4659a-3p	CLIP-seq
MIRT2097661	hsa-miR-4659b-3p	CLIP-seq
MIRT2097662	hsa-miR-487a	CLIP-seq
MIRT2321878	hsa-miR-1197	CLIP-seq
MIRT2321879	hsa-miR-1208	CLIP-seq
MIRT2321880	hsa-miR-1258	CLIP-seq
MIRT2321881	hsa-miR-3117-3p	CLIP-seq
MIRT2321882	hsa-miR-3691-3p	CLIP-seq
MIRT2321883	hsa-miR-4420	CLIP-seq
MIRT2321884	hsa-miR-4729	CLIP-seq
MIRT2097662	hsa-miR-487a	CLIP-seq
MIRT2321885	hsa-miR-5096	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0000902	Process	Cell morphogenesis	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0005515	Function	Protein binding	IPI	19536132, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005798	Component	Golgi-associated vesicle	ISS
GO:0005801	Component	Cis-Golgi network	IDA	15649705
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISS
GO:0006892	Process	Post-Golgi vesicle-mediated transport	ISS
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0009636	Process	Response to toxic substance	IEP	15649705
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0019905	Function	Syntaxin binding	IBA	21873635
GO:0019905	Function	Syntaxin binding	ISS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0047485	Function	Protein N-terminus binding	IEA
GO:0048208	Process	COPII vesicle coating	TAS
GO:0051223	Process	Regulation of protein transport	IMP	21242315
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	ISS
GO:1901998	Process	Toxin transport	IEA
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	21242315

Other IDs

• MIM: 618207
• HGNC: 20726
• e!Ensembl: ENSG00000092108

Protein

• UniProt ID: Q8WVM8
• Protein name: Sec1 family domain-containing protein 1 (SLY1 homolog) (Sly1p) (Syntaxin-binding protein 1-like 2)
• Protein function: Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00995	Sec1	44 → 635	Sec1 family	Family

• Sequence:

  MAAAAAATAAAAASIRERQTVALKRMLNFNVPHIKNSTGEPVWKVLIYDRFGQDIISPLL
  SVKELRDMGITLHLLLHSDRDPIPDVPAVYFVMPTEENIDRMCQDLRNQLYESYYLNFIS
  AISRSKLEDIANAALAASAVTQVAKVFDQYLNFITLEDDMFVLCNQNKELVSYRAINRPD
  ITDTEMETVMDTIVDSLFCFFVTLGAVPIIRCSRGTAAEMVAVKLDKKLRENLRDARNSL
  FTGDTLGAGQFSFQRPLLVLVDRNIDLATPLHHTWTYQALVHDVLDFHLNRVNLEESSGV
  ENSPAGARPKRKNKKSYDLTPVDKFWQKHKGSPFPEVAESVQQELESYRAQEDEVKRLKS
  IMGLEGEDEGAISMLSDNTAKLTSAVSSLPELLEKKRLIDLHTNVATAVLEHIKARKLDV
  YFEYEEKIMSKTTLDKSLLDIISDPDAGTPEDKMRLFLIYYISTQQAPSEADLEQYKKAL
  TDAGCNLNPLQYIKQWKAFTKMASAPASYGSTTTKPMGLLSRVMNTGSQFVMEGVKNLVL
  KQQNLPVTRILDNLMEMKSNPETDDYRYFDPKMLRGNDSSVPRNKNPFQEAIVFVVGGGN
  YIEYQNLVDYIKGKQGKHILYGCSELFNATQFIKQLSQLGQK

• Sequence length: 642

Pathways

Reactome:

COPII-mediated vesicle transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	27455348, 29566793

Unknown
Disease term	Disease name	Evidence	References	Source
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	27455348, 33414559, 33523907, 33541344, 36759259, 37639066
Frontotemporal Dementia	Associate	37979250