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Aliases for SCFD1 Gene

Aliases for SCFD1 Gene

  • Sec1 Family Domain Containing 1 2 3 5
  • Syntaxin-Binding Protein 1-Like 2 3 4
  • C14orf163 3 4
  • STXBP1L2 3 4
  • SLY1P 3 4
  • Sec1 Family Domain-Containing Protein 1 3
  • Chromosome 14 Open Reading Frame 163 2
  • Vesicle Transport-Related Protein 3
  • SLY1 Homolog 4
  • KIAA0917 4
  • RA410 3
  • SLY1 3

External Ids for SCFD1 Gene

Previous HGNC Symbols for SCFD1 Gene

  • C14orf163

Previous GeneCards Identifiers for SCFD1 Gene

  • GC14P029082
  • GC14P029083
  • GC14P030161
  • GC14P031091
  • GC14P011209

Summaries for SCFD1 Gene

GeneCards Summary for SCFD1 Gene

SCFD1 (Sec1 Family Domain Containing 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. GO annotations related to this gene include protein N-terminus binding and syntaxin binding.

UniProtKB/Swiss-Prot for SCFD1 Gene

  • 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 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCFD1 Gene

Genomics for SCFD1 Gene

Regulatory Elements for SCFD1 Gene

Enhancers for SCFD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G030621 1.2 ENCODE 22.6 -0.1 -125 3.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SCFD1 RPL21P5 G2E3
GH14G030610 1.1 Ensembl ENCODE 22.4 -11.1 -11110 0.8 HDAC1 NFIB FEZF1 RAD21 YY1 ZNF366 SCRT2 CEBPB OVOL3 ZEB2 SCFD1 G2E3
GH14G030558 1.1 ENCODE 22.1 -62.6 -62574 2.7 HNRNPUL1 FOXA2 MLX AGO1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SCFD1 G2E3
GH14G030608 0.7 ENCODE 22.5 -13.3 -13250 0.6 CTCF PKNOX1 INSM2 FEZF1 ZNF2 ZNF664 ZNF366 SCRT2 ZNF600 SCRT1 SCFD1 G2E3
GH14G030632 0.4 FANTOM5 12.4 +10.1 10111 0.4 RBFOX2 SCFD1 GC14M030683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCFD1 on UCSC Golden Path with GeneCards custom track

Promoters for SCFD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000067155 488 2801 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 MLX AGO1 ZFP64 SIN3A ARID4B DMAP1

Genomic Location for SCFD1 Gene

Chromosome:
14
Start:
30,622,112 bp from pter
End:
30,735,828 bp from pter
Size:
113,717 bases
Orientation:
Plus strand

Genomic View for SCFD1 Gene

Genes around SCFD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCFD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCFD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCFD1 Gene

Proteins for SCFD1 Gene

  • Protein details for SCFD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVM8-SCFD1_HUMAN
    Recommended name:
    Sec1 family domain-containing protein 1
    Protein Accession:
    Q8WVM8
    Secondary Accessions:
    • A8K2Z5
    • B7Z4U7
    • B7Z594
    • O60754
    • O94990
    • Q7Z529
    • Q9BZI3
    • Q9UNL3
    • Q9Y6A8

    Protein attributes for SCFD1 Gene

    Size:
    642 amino acids
    Molecular mass:
    72380 Da
    Quaternary structure:
    • Interacts with STX17. Interacts with STX5A. Interacts with the COG complex via COG4 (By similarity).
    SequenceCaution:
    • Sequence=AAD40381.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAD48586.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAP97146.1; Type=Frameshift; Positions=5; Evidence={ECO:0000305}; Sequence=BAA74940.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SCFD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCFD1 Gene

Post-translational modifications for SCFD1 Gene

  • Ubiquitination at isoforms=63, Lys324, Lys494, and Lys501
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCFD1 Gene

Domains & Families for SCFD1 Gene

Protein Domains for SCFD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WVM8

UniProtKB/Swiss-Prot:

SCFD1_HUMAN :
  • Belongs to the STXBP/unc-18/SEC1 family.
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with SCFD1: view

No data available for Gene Families for SCFD1 Gene

Function for SCFD1 Gene

Molecular function for SCFD1 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SCFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19536132
GO:0019905 syntaxin binding ISS --
GO:0047485 protein N-terminus binding IEA --
genes like me logo Genes that share ontologies with SCFD1: view
genes like me logo Genes that share phenotypes with SCFD1: view

Animal Model Products

CRISPR Products

miRNA for SCFD1 Gene

miRTarBase miRNAs that target SCFD1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCFD1 Gene

Localization for SCFD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCFD1 Gene

Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCFD1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
nucleus 2
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SCFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005798 Golgi-associated vesicle ISS --
genes like me logo Genes that share ontologies with SCFD1: view

Pathways & Interactions for SCFD1 Gene

genes like me logo Genes that share pathways with SCFD1: view

Gene Ontology (GO) - Biological Process for SCFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis ISS --
GO:0001666 response to hypoxia IEA --
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER ISS --
GO:0006892 post-Golgi vesicle-mediated transport ISS --
genes like me logo Genes that share ontologies with SCFD1: view

No data available for SIGNOR curated interactions for SCFD1 Gene

Transcripts for SCFD1 Gene

Unigene Clusters for SCFD1 Gene

Sec1 family domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCFD1 Gene

No ASD Table

Relevant External Links for SCFD1 Gene

GeneLoc Exon Structure for
SCFD1
ECgene alternative splicing isoforms for
SCFD1

Expression for SCFD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCFD1 Gene

Protein differential expression in normal tissues from HIPED for SCFD1 Gene

This gene is overexpressed in Salivary gland (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCFD1 Gene



Protein tissue co-expression partners for SCFD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCFD1 Gene:

SCFD1

SOURCE GeneReport for Unigene cluster for SCFD1 Gene:

Hs.369168

Evidence on tissue expression from TISSUES for SCFD1 Gene

  • Nervous system(4.8)
  • Heart(4.3)
  • Liver(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with SCFD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCFD1 Gene

Orthologs for SCFD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCFD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCFD1 34 35
  • 99.95 (n)
oppossum
(Monodelphis domestica)
Mammalia SCFD1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCFD1 34 35
  • 94.85 (n)
cow
(Bos Taurus)
Mammalia SCFD1 34 35
  • 93.9 (n)
mouse
(Mus musculus)
Mammalia Scfd1 34 16 35
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia Scfd1 34
  • 90.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCFD1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCFD1 34 35
  • 84.87 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 90 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia scfd1 34
  • 77.11 (n)
Str.11932 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8397 34
zebrafish
(Danio rerio)
Actinopterygii sly1 35 34
  • 74.83 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Slh 34 35
  • 56.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011358 34
  • 51.27 (n)
worm
(Caenorhabditis elegans)
Secernentea F43D9.3 34 35
  • 56.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL120W 34
  • 48.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLY1 34 35 37
  • 47.69 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18480g 34
  • 46.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATSLY1 34
  • 49.34 (n)
rice
(Oryza sativa)
Liliopsida Os03g0620800 34
  • 47.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7199 35
  • 58 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sly1 34
  • 51.34 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04252 34
  • 48.94 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14654 34
Species where no ortholog for SCFD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCFD1 Gene

ENSEMBL:
Gene Tree for SCFD1 (if available)
TreeFam:
Gene Tree for SCFD1 (if available)

Paralogs for SCFD1 Gene

genes like me logo Genes that share paralogs with SCFD1: view

No data available for Paralogs for SCFD1 Gene

Variants for SCFD1 Gene

Sequence variations from dbSNP and Humsavar for SCFD1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000002913 -- 30,652,118(+) CCCCG(A/C)GTCAA intron-variant
rs1000018690 -- 30,712,977(+) TTGTT(A/G)AGCAA intron-variant
rs1000070975 -- 30,713,356(+) GTTGT(-/A)AAAAA intron-variant
rs1000072306 -- 30,734,472(+) ATGTT(G/T)TTCTA intron-variant
rs1000123477 -- 30,637,476(+) ATCAG(A/G/T)TGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCFD1 Gene

Variant ID Type Subtype PubMed ID
esv1928439 CNV deletion 18987734
esv3305404 CNV mobile element insertion 20981092
esv33189 CNV loss 17666407
esv3327410 CNV insertion 20981092
esv3413675 CNV insertion 20981092
esv3581098 CNV loss 25503493
nsv1230 CNV insertion 18451855
nsv472436 CNV novel sequence insertion 20440878
nsv509529 CNV insertion 20534489
nsv526536 CNV gain 19592680
nsv564169 CNV gain 21841781
nsv564171 CNV loss 21841781
nsv564172 CNV loss 21841781
nsv84475 CNV insertion 16902084
nsv84774 CNV insertion 16902084

Variation tolerance for SCFD1 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCFD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCFD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCFD1 Gene

Disorders for SCFD1 Gene

Relevant External Links for SCFD1

Genetic Association Database (GAD)
SCFD1
Human Genome Epidemiology (HuGE) Navigator
SCFD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCFD1

No disorders were found for SCFD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCFD1 Gene

Publications for SCFD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4 64
  5. 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. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4 64

Products for SCFD1 Gene

Sources for SCFD1 Gene

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