SEC14L1 Gene (Protein Coding)

SEC14 Like Lipid Binding 1

GC17P077086
GIFtS:
39
The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include ... See more...

Aliases for SEC14L1 Gene

Aliases for SEC14L1 Gene

  • SEC14 Like Lipid Binding 1 2 3 5
  • SEC14-Like Protein 1 3 4
  • PRELID4A 2 3
  • SEC14L 3 4
  • SEC14 (S. Cerevisiae)-Like 1 2
  • SEC14-Like 1 (S. Cerevisiae) 2
  • SEC14-Like Lipid Binding 1 2
  • SEC14L1 5

External Ids for SEC14L1 Gene

Previous HGNC Symbols for SEC14L1 Gene

  • SEC14L

Previous GeneCards Identifiers for SEC14L1 Gene

  • GC17P074969
  • GC17P078129
  • GC17P075601
  • GC17P075734
  • GC17P072648
  • GC17P075137
  • GC17P070565
  • GC17P075089
  • GC17P075090
  • GC17P075092
  • GC17P075093
  • GC17P075096
  • GC17P075101

Summaries for SEC14L1 Gene

Entrez Gene Summary for SEC14L1 Gene

  • The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]

GeneCards Summary for SEC14L1 Gene

SEC14L1 (SEC14 Like Lipid Binding 1) is a Protein Coding gene. Diseases associated with SEC14L1 include Complement Component 7 Deficiency and Amyotrophic Neuralgia. An important paralog of this gene is SEC14L5.

UniProtKB/Swiss-Prot Summary for SEC14L1 Gene

  • May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation (PubMed:23843640). May also regulate the SLC18A3 and SLC5A7 cholinergic transporters (PubMed:17092608).

Gene Wiki entry for SEC14L1 Gene

Additional gene information for SEC14L1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC14L1 Gene

Genomics for SEC14L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SEC14L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC14L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC14L1

Top Transcription factor binding sites by QIAGEN in the SEC14L1 gene promoter:
  • AML1a
  • Egr-3
  • FOXI1
  • FOXO1
  • FOXO1a
  • GATA-2
  • HFH-3
  • Sp1

Genomic Locations for SEC14L1 Gene

Latest Assembly
chr17:77,088,685-77,217,101
(GRCh38/hg38)
Size:
128,417 bases
Orientation:
Plus strand

Previous Assembly
chr17:75,084,767-75,213,183
(GRCh37/hg19 by Entrez Gene)
Size:
128,417 bases
Orientation:
Plus strand

chr17:75,082,798-75,213,179
(GRCh37/hg19 by Ensembl)
Size:
130,382 bases
Orientation:
Plus strand

Genomic View for SEC14L1 Gene

Genes around SEC14L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC14L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC14L1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SEC14L1 Gene

Proteins for SEC14L1 Gene

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  • Protein details for SEC14L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92503-S14L1_HUMAN
    Recommended name:
    SEC14-like protein 1
    Protein Accession:
    Q92503
    Secondary Accessions:
    • A8K4E8
    • B4DDI5
    • D5G3K1
    • Q99780

    Protein attributes for SEC14L1 Gene

    Size:
    715 amino acids
    Molecular mass:
    81250 Da
    Quaternary structure:
    • Interacts with DDX58 (via tandem CARD domain); the interaction is direct (PubMed:23843640). Interacts (via GOLD domain) with SLC18A3; the interaction is direct (PubMed:17092608). Interacts with SLC5A7 (via GOLD domain); the interaction is direct (PubMed:17092608).

    Alternative splice isoforms for SEC14L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC14L1 Gene

Protein Expression for SEC14L1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SEC14L1 Gene

  • Ubiquitination at Lys160 and Lys597
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC14L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEC14L1 Gene

Domains & Families for SEC14L1 Gene

Gene Families for SEC14L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEC14L1 Gene

InterPro:
Blocks:
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
  • Cellular retinaldehyde-binding protein signature
  • Cellular retinaldehyde-binding/triple function, N-terminal
  • MSF1-like conserved region
ProtoNet:

Suggested Antigen Peptide Sequences for SEC14L1 Gene

GenScript: Design optimal peptide antigens:
  • SEC14L1 protein (A5PLM6_HUMAN)
  • cDNA FLJ76794, highly similar to Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), mRNA (A8K4E8_HUMAN)
  • SEC14L1 protein (D5G3K3_HUMAN)
  • SEC14L1 protein (D5G3K4_HUMAN)
  • SEC14-like protein 1 (S14L1_HUMAN)
genes like me logo Genes that share domains with SEC14L1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SEC14L1 Gene

Function for SEC14L1 Gene

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Molecular function for SEC14L1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation (PubMed:23843640). May also regulate the SLC18A3 and SLC5A7 cholinergic transporters (PubMed:17092608).
GENATLAS Biochemistry:
yeast (S cerevisiae) SEC14-like 1,putatively involved in intracellulair transport system,ubiquitously expressed

Phenotypes From GWAS Catalog for SEC14L1 Gene

Gene Ontology (GO) - Molecular Function for SEC14L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17092608
GO:0039552 RIG-I binding IPI 23843640
genes like me logo Genes that share ontologies with SEC14L1: view
genes like me logo Genes that share phenotypes with SEC14L1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC14L1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC14L1 Gene

Localization for SEC14L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC14L1 Gene

Cytoplasm. Golgi apparatus.

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 SEC14L1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC14L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 17092608
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005794 colocalizes_with Golgi apparatus IEA,IDA 17092608
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SEC14L1: view

Pathways & Interactions for SEC14L1 Gene

PathCards logo

SuperPathways for SEC14L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEC14L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0009968 negative regulation of signal transduction IEA --
GO:0015871 choline transport IDA 17092608
GO:0039536 negative regulation of RIG-I signaling pathway IMP 23843640
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with SEC14L1: view

No data available for Pathways by source and SIGNOR curated interactions for SEC14L1 Gene

Drugs & Compounds for SEC14L1 Gene

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No Compound Related Data Available

Transcripts for SEC14L1 Gene

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mRNA/cDNA for SEC14L1 Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC14L1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEC14L1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20
SP1: - - -
SP2: - - -
SP3: - - - -
SP4:
SP5: -
SP6:

Relevant External Links for SEC14L1 Gene

GeneLoc Exon Structure for
SEC14L1

Expression for SEC14L1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC14L1 Gene

mRNA expression in normal human tissues for SEC14L1 Gene
mRNA expression by BioGPS for SEC14L1 GenemRNA expression by GTEx for SEC14L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEC14L1 Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for SEC14L1 Gene

This gene is overexpressed in Bone (40.0) and Adrenal (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC14L1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC14L1

SOURCE GeneReport for Unigene cluster for SEC14L1 Gene:

Hs.464184

mRNA Expression by UniProt/SwissProt for SEC14L1 Gene:

Q92503-S14L1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SEC14L1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Liver(4.3)
  • Adrenal gland(4.3)
  • Blood(2.4)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with SEC14L1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC14L1 Gene

Orthologs for SEC14L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC14L1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SEC14L1 30 31
  • 99.58 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SEC14L1 31
  • 92 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SEC14L1 30 31
  • 88.89 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SEC14L1 30 31
  • 88.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sec14l1 30
  • 87.2 (n)
Mouse
(Mus musculus)
 Mammalia Sec14l1 30 17 31
  • 86.42 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SEC14L1 31
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SEC14L1 30 31
  • 80.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SEC14L1 31
  • 91 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sec14l5 30
  • 74.39 (n)
Str.7219 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6996 30
Zebrafish
(Danio rerio)
 Actinopterygii SEC14L1 (2 of 2) 31
  • 88 (a)
 OneToMany
sec14l1 30 31
  • 71.87 (n)
 OneToMany
zgc55783 30
Fruit Fly
(Drosophila melanogaster)
 Insecta retm 31
  • 49 (a)
 OneToMany
CG9528 32
  • 44 (a)
Worm
(Caenorhabditis elegans)
 Secernentea T23G5.2 30 31 32
  • 54.26 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 31
  • 27 (a)
 ManyToMany
SEC14 31
  • 27 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10399 31
  • 54 (a)
 OneToMany
Species where no ortholog for SEC14L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC14L1 Gene

ENSEMBL:
Gene Tree for SEC14L1 (if available)
TreeFam:
Gene Tree for SEC14L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC14L1: view image

Paralogs for SEC14L1 Gene

Paralogs for SEC14L1 Gene

(7) SIMAP similar genes for SEC14L1 Gene using alignment to 13 proteins:

  • S14L1_HUMAN
  • A5PLM6_HUMAN
  • D5G3K3_HUMAN
  • D5G3K4_HUMAN
  • K7EIJ7_HUMAN
  • K7EJ08_HUMAN
  • K7EJJ2_HUMAN
  • K7ELM0_HUMAN
  • K7ELU0_HUMAN
  • K7EPE4_HUMAN
  • K7EQK4_HUMAN
  • K7ERB3_HUMAN
  • K7ESI4_HUMAN

Pseudogenes.org Pseudogenes for SEC14L1 Gene

genes like me logo Genes that share paralogs with SEC14L1: view

Variants for SEC14L1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC14L1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs114161301 Benign: not provided 77,213,398(+) C/T
NM_001143998.2(SEC14L1):c.1948C>T (p.Pro650Ser) 		MISSENSE
rs140813836 Benign: not provided 77,203,586(+) C/T
NM_001143998.2(SEC14L1):c.1026C>T (p.Tyr342=) 		SYNONYMOUS
rs143199360 Likely Benign: not provided 77,213,409(+) C/T
NM_001143998.2(SEC14L1):c.1959C>T (p.Asp653=) 		SYNONYMOUS
rs143320926 Benign: not provided 77,209,465(+) G/T
NM_001143998.2(SEC14L1):c.1600G>T (p.Ala534Ser) 		MISSENSE
rs144815495 Likely Benign: not provided 77,190,913(+) C/G
NM_001143998.2(SEC14L1):c.174C>G (p.Arg58=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC14L1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEC14L1 Gene

Variant ID Type Subtype PubMed ID
dgv3284n100 CNV gain 25217958
dgv5784n54 CNV gain 21841781
esv2050948 CNV deletion 18987734
esv2635212 CNV insertion 19546169
esv2675918 CNV deletion 23128226
esv2716266 CNV deletion 23290073
esv2716267 CNV deletion 23290073
esv2758704 CNV gain 17122850
esv3210300 CNV deletion 24192839
esv34174 CNV loss 18971310
esv3554806 CNV deletion 23714750
esv3554810 CNV deletion 23714750
esv3582914 CNV loss 25503493
esv3641304 CNV gain 21293372
esv6153 CNV loss 19470904
nsv1063597 CNV gain 25217958
nsv2147 CNV insertion 18451855
nsv2148 CNV insertion 18451855
nsv513482 CNV insertion 21212237
nsv833551 CNV gain 17160897
nsv960534 CNV duplication 23825009

Variation tolerance for SEC14L1 Gene

Residual Variation Intolerance Score: 7.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC14L1 Gene

Human Gene Mutation Database (HGMD)
SEC14L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC14L1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC14L1 Gene

Disorders for SEC14L1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SEC14L1 Gene - From: COP

Disorder Aliases PubMed IDs
complement component 7 deficiency
  • c7d
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
tylosis with esophageal cancer
  • toc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC14L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEC14L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC14L1 Gene

Publications for SEC14L1 Gene

  1. SEC14-like protein 1 interacts with cholinergic transporters. (PMID: 17092608) Ribeiro FM … Prado VF (Neurochemistry international 2007) 2 3 4 23
  2. Isolation and mapping of a human gene (SEC14L), partially homologous to yeast SEC14, that contains a variable number of tandem repeats (VNTR) site in its 3' untranslated region. (PMID: 8697811) Chinen K … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 23
  3. Negative regulation of RIG-I-mediated innate antiviral signaling by SEC14L1. (PMID: 23843640) Li MT … Chen DY (Journal of virology 2013) 2 3 4
  4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 41
  5. The lipid-binding SEC14 domain. (PMID: 17428729) Saito K … Mustelin T (Biochimica et biophysica acta 2007) 2 3

ExternalLinks

View latest publications for SEC14L1 gene in Mastermind

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