SCFD1 Gene
protein-coding GIFtS: 52
GCID: GC14P031091
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sec1 family domain containing 1(Previous name: chromosome 14 open reading frame 163 ) (Previous symbol: C14orf163)
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Aliases for SCFD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Sec1 Family Domain Containing 11 2 | | SLY1 Homolog2 3 | | C14orf1631 2 3 | | Chromosome 14 Open Reading Frame 1631 | | STXBP1L21 2 3 | | SLY1P2 | | RA4101 2 | | Sec1 Family Domain-Containing Protein 12 | | SLY11 2 | | Vesicle Transport-Related Protein2 | | KIAA09171 3 | | Sly1p3 | | Syntaxin-Binding Protein 1-Like 22 3 | | |
Export aliases for SCFD1 gene to outside databasesPrevious GC identifers: GC14P029082 GC14P029083 GC14P030161 GC14P011209 |
Summaries for SCFD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: SCFD1_HUMAN, Q8WVM8Function: 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) Gene Wiki entry for SCFD1
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Genomic Views for SCFD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SCFD1 gene promoter: USF1 LCR-F1 C/EBPalpha MEF-2A AREB6 POU2F1 USF-1 POU2F1a aMEF-2 RSRFC4 Other transcription factors
Search SABiosciences Chromatin IP Primers for SCFD1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCFD1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q12 Ensembl cytogenetic band: 14q12 HGNC cytogenetic band: 14q12SCFD1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P031091: view genomic region
(about GC identifiers)
Start:
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31,091,318 bp from pter |
End:
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31,205,018 bp from pter |
Size:
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113,701 bases |
Orientation:
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plus strand |
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Proteins for SCFD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SCFD1_HUMAN, Q8WVM8 (See
protein sequence)Recommended Name: Sec1 family domain-containing protein 1 Size: 642 amino acids; 72380 Da
Subunit: Binds STX5A. Interacts with the COG complex via COG4 (By similarity)
Subcellular location: Cytoplasm (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein (Bysimilarity). Golgi apparatus, Golgi stack membrane; Peripheral membrane protein (By similarity)
Sequence caution: Sequence=AAD40381.1; Type=Frameshift; Positions=Several; Sequence=AAD48586.1; Type=Frameshift;Positions=Several; Sequence=AAP97146.1; Type=Frameshift; Positions=5; Sequence=BAA74940.2; Type=Erroneous initiation;
Secondary accessions: A8K2Z5 O60754 O94990 Q7Z529 Q9BZI3 Q9UNL3 Q9Y6A8Explore the universe of human proteins at neXtProt for SCFD1: NX_Q8WVM8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8WVM8 SCFD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001244305.1 NP_057190.2 NP_878255.1 ENSEMBL proteins: ENSP00000390783 ENSP00000452323 ENSP00000451298 ENSP00000443010 ENSP00000451811 ENSP00000452178 ENSP00000451064 ENSP00000309417 ENSP00000450755 ENSP00000452308 ENSP00000379870 ENSP00000452046 ENSP00000452448 ENSP00000450546 ENSP00000388078 ENSP00000443537 Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
SCFD1 for ontologies About GeneDecksing
SCFD1 Antibody Products: Assay Products for SCFD1: |
Protein
Domains / Families for SCFD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SCFD1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8WVM8ProtoNet protein and cluster: Q8WVM8 1 Blocks protein family: IPB001619 Sec1-like protein
UniProtKB/Swiss-Prot: SCFD1_HUMAN, Q8WVM8Similarity: Belongs to the STXBP/unc-18/SEC1 family |
Function for SCFD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SCFD1_HUMAN, Q8WVM8Function: 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)
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SCFD1 (NM_182835) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCFD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCFD1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCFD1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
SCFD1 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for SCFD1:
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Pathways & Interactions for SCFD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCFD1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/105 Interacting proteins for SCFD1 (Q8WVM82, 3 ENSP000003907834) via UniProtKB, MINT, STRING, and/or I2D (see all 105)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
SCFD1 for ontologies About GeneDecksing
|
Drugs & Compounds for SCFD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for SCFD1 Search CenterWatch for drugs/clinical trials and news about SCFD1 
|
Transcripts for SCFD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for SCFD1 gene (3 alternative transcripts): NM_001257376.1 NM_016106.3 NM_182835.2 Unigene Cluster for SCFD1: Sec1 family domain containing 1 Hs.369168 [show with all ESTs]Unigene Representative Sequence: NM_01610618/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27): ENST00000458591(uc001wqm.1 uc001wqn.1 uc010tpg.1 uc010tph.1 uc010amf.1) ENST00000555259(uc010amd.1) ENST00000463622 ENST00000544052 ENST00000556768 ENST00000484733 ENST00000557713 ENST00000311943 ENST00000557076 ENST00000553693 ENST00000396629(uc010tpi.1) ENST00000554524 ENST00000556413 ENST00000554776 ENST00000556534 ENST00000469043 ENST00000554819 ENST00000553278
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SCFD1 (NM_182835) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCFD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCFD1  |
Additional cDNA sequence: AB020724.2 AF067205.1 AF086916.1 AF092139.1 AF110646.1 AF319958.1 AK222820.1 AK290410.1 AK297873.1 AK298622.1 AK299222.1 AK301406.1 AK307960.1 AK308587.1 AK316212.1 BC017734.1 NR_047546.1 NR_047547.1 NR_047548.1 23 DOTS entries: DT.455143 DT.101983316 DT.100879677 DT.92442089 DT.100879668 DT.120759707 DT.120759728 DT.40110612 DT.100037068 DT.100697854 DT.100879674 DT.211621 DT.100668750 DT.100879648 DT.101975979 DT.100652537 DT.100879672 DT.100879679 DT.120759745 DT.120759765 DT.91668778 DT.100879671 DT.99945462 24/305 AceView cDNA sequences (see all 305): BQ183200 BX493539 CA848182 CR617066 CN483619 BI793174 BQ000104 BM457930 CA454055 CA424929 AW102840 BF436897 BX367916 CA431007 AB020724 AA040582 BU521154 BQ424823 AW181894 BM699968 AA385690 BM310604 CR602903 AI884447 GeneLoc Exon Structure
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Expression for SCFD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SCFD1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AATACAGGAT
About this image See SCFD1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SCFD1
SOURCE GeneReport for Unigene cluster: Hs.369168 SABiosciences Custom PCR Arrays for SCFD1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCFD1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SCFD1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCFD1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCFD1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCFD1 |
Orthologs for SCFD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SCFD1 gene from 9/35 species (see all 35) About this table
ENSEMBL Gene Tree for SCFD1 (if available) TreeFam Gene Tree for SCFD1 (if available)  |
Paralogs for SCFD1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for SCFD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 14 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for SCFD1 (31091318 - 31205018 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for SCFD1 2 CNVs: 7031 35247  | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases for SCFD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SCFD1 for disorders About GeneDecksing
2 diseases for SCFD1: About MalaCardshypoxia malaria Human Genome Epidemiology (HuGE) Navigator: SCFD1 (2 documents) Export disorders for SCFD1 gene to outside databases
|
Publications for SCFD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SCFD1 gene, integrated from 9 sources (see all 36): (articles sorted by number of sources associating them with SCFD1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
- Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
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External Searches for SCFD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing SCFD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SCFD1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SCFD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for SCFD1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for SCFD1 gene: Search GeneIP for patents involving SCFD1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for SCFD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for SCFD1 | | OriGene shRNA RFP for SCFD1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCFD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCFD1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SCFD1 | | OriGene 3'-UTR Clone for SCFD1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCFD1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for SCFD1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for SCFD1 | | OriGene Custom Protein Services for SCFD1 | | OriGene Custom Immunoassay Development | | |
| |  |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SCFD1 | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCFD1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCFD1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCFD1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCFD1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCFD1 |
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 | | SCFD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCFD1 |
|  |  |  | | | ThermoFisher Antibodies for SCFD1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCFD1 |
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