Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	23256
Gene name	Sec1 family domain containing 1
Gene symbol	SCFD1
Synonyms (NCBI Gene)	C14orf163RA410SLY1SLY1PSTXBP1L2
Chromosome	14
Chromosome location	14q12

15 Show/Hide all (15)

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

25 Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0005515	Function	Protein binding	IPI	19536132, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005798	Component	Golgi-associated vesicle	ISS
GO:0005801	Component	Cis-Golgi network	IDA	15649705
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISS
GO:0006892	Process	Post-Golgi vesicle-mediated transport	ISS
GO:0009636	Process	Response to toxic substance	IEP	15649705
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0019905	Function	Syntaxin binding	IBA
GO:0019905	Function	Syntaxin binding	ISS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0051223	Process	Regulation of protein transport	IMP	21242315
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	ISS
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	21242315

MIM	HGNC	e!Ensembl
618207	20726	ENSG00000092108

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

Interactions

View interactions

Reactome Pathway
COPII-mediated vesicle transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Amyotrophic lateral sclerosis	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	27455348, 29566793	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCFD1-related disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	27455348, 29566793		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	27455348		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27455348, 33414559, 33523907, 33541344, 36759259, 37639066	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29260601, 31267315		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	27455348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	27455348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37979250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17088907		★★★★★ ★☆☆☆☆ Found in Text Mining only

SCFD1 (sec1 family domain containing 1)

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