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    SEC14L1 SEC14 like lipid binding 1 [ Homo sapiens (human) ]

    Gene ID: 6397, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SEC14L1provided by HGNC
    Official Full Name
    SEC14 like lipid binding 1provided by HGNC
    Primary source
    HGNC:HGNC:10698
    See related
    Ensembl:ENSG00000129657 MIM:601504; AllianceGenome:HGNC:10698
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEC14L; PRELID4A
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 29.8), testis (RPKM 26.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEC14L1 in Genome Data Viewer
    Location:
    17q25.2-q25.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (77088685..77217101)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77981537..78110663)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (75084767..75213183)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74881066-74881940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74901567-74902178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74902179-74902790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74912167-74912666 Neighboring gene alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74933764-74934306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74936614-74937172 Neighboring gene uncharacterized LOC105371899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74953917-74954830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9030 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74965460-74966084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74979338-74979875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74978799-74979337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74991281-74991822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74993993-74994533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75048917-75049660 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:75052409-75052622 Neighboring gene Sharpr-MPRA regulatory region 11385 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:75084131-75085330 Neighboring gene NANOG hESC enhancer GRCh37_chr17:75102846-75103510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75120061-75120834 Neighboring gene uncharacterized LOC105371901 Neighboring gene small Cajal body-specific RNA 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75129013-75129514 Neighboring gene microRNA 6516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9031 Neighboring gene small nucleolar RNA host gene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9033 Neighboring gene Sharpr-MPRA regulatory region 40 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75159437-75159938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75181881-75182382 Neighboring gene RNA, U4 small nuclear 47, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75182383-75182882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75213877-75214400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:75217127-75217628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:75217629-75218128 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:75229305-75230504 Neighboring gene Sharpr-MPRA regulatory region 14112 Neighboring gene CYCS pseudogene 40 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75243257-75244107 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:75250208-75251407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75253655-75254312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75254313-75254968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75262063-75262564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75262565-75263064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75275663-75276310 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:75277912-75278075 Neighboring gene SEPTIN9 divergent transcript Neighboring gene lung adenocarcinoma-associated transcript 1 Neighboring gene septin 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of Saccharomyces cerevisiae -like 1 (SEC14L1) in Gynecologic Malignancies Shows Overexpression in Endometrial Serous Carcinoma. Banet N, et al. Int J Gynecol Pathol, 2023 Mar 1. PMID 35283446
    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. Chinen K, et al. Cytogenet Cell Genet, 1996. PMID 8697811
    3. Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an unrelated embedded expressed sequence tag. Kalikin LM, et al. Mamm Genome, 2001 Dec. PMID 11707779
    4. Saccharomyces cerevisiae-like 1 (SEC14L1) is a prognostic factor in breast cancer associated with lymphovascular invasion. Sonbul SN, et al. Mod Pathol, 2018 Nov. PMID 29955149
    5. Saccharomyces cerevisiae-like 1 overexpression is frequent in prostate cancer and has markedly different effects in Ets-related gene fusion-positive and fusion-negative cancers. Burdelski C, et al. Hum Pathol, 2015 Apr. PMID 25701228

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of Saccharomyces cerevisiae -like 1 (SEC14L1) in Gynecologic Malignancies Shows Overexpression in Endometrial Serous Carcinoma.
      Title: Evaluation of Saccharomyces cerevisiae -like 1 (SEC14L1) in Gynecologic Malignancies Shows Overexpression in Endometrial Serous Carcinoma.
    2. Our findings specify SEC14L1 as an independent prognostic factor in breast cancer.
      Title: Saccharomyces cerevisiae-like 1 (SEC14L1) is a prognostic factor in breast cancer associated with lymphovascular invasion.
    3. we present genetic evidence that NGx04 inhibits fungal Sec14p and initial data supporting NGx04 as a novel antifungal starting point.
      Title: High-Resolution Genetics Identifies the Lipid Transfer Protein Sec14p as Target for Antifungal Ergolines.
    4. a markedly different role of SEC14L1 in TMPSSR2:ERG-negative and TMPSSR2:ERG-positive prostate cancers
      Title: Saccharomyces cerevisiae-like 1 overexpression is frequent in prostate cancer and has markedly different effects in Ets-related gene fusion-positive and fusion-negative cancers.
    5. Sec14 and Sec14 like proteins form central conduits to integrate multiple aspects of lipid metabolism with productive phosphoinositide signaling. (Review)
      Title: Sec14 like PITPs couple lipid metabolism with phosphoinositide synthesis to regulate Golgi functionality.
    6. These findings suggest that SEC14L1 functions as a novel negative regulator of RIG-I-mediated antiviral signaling by preventing RIG-I interaction with the downstream effector.
      Title: Negative regulation of RIG-I-mediated innate antiviral signaling by SEC14L1.
    7. TCEB1 and SELC14L1 are good candidate markers for predicting prognosis and progression of prostate cancer.
      Title: A 12-gene expression signature is associated with aggressive histological in prostate cancer: SEC14L1 and TCEB1 genes are potential markers of progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of SEC14-like 1 (SEC14L1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686C06176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RIG-I binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RIG-I binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein sequestering activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in choline transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of RIG-I signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of RIG-I signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    SEC14-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050640.2 RefSeqGene

      Range
      57327..133459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039573.3 → NP_001034662.3  SEC14-like protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is alternatively spliced in the 3' coding region, compared to variant 3. Variants 2 and 6 encode isoform b, which is longer than isoform a.
      Source sequence(s)
      AC068594
      UniProtKB/TrEMBL
      A5PLM6
      Related
      ENSP00000406030.3, ENST00000443798.8
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    2. NM_001143998.2 → NP_001137470.2  SEC14-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is the longest transcript but encodes the shortest isoform (a).
      Source sequence(s)
      AC068594
      UniProtKB/Swiss-Prot
      A8K4E8, B4DDI5, D5G3K1, Q92503, Q99780
      UniProtKB/TrEMBL
      Q7Z3R7
      Related
      ENSP00000390392.3, ENST00000436233.9
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    3. NM_001143999.2 → NP_001137471.2  SEC14-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 3. Variants 1, 3, 4 and 7 encode isoform a.
      Source sequence(s)
      AC068594
      UniProtKB/Swiss-Prot
      A8K4E8, B4DDI5, D5G3K1, Q92503, Q99780
      UniProtKB/TrEMBL
      Q7Z3R7
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    4. NM_001144001.2 → NP_001137473.2  SEC14-like protein 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three 5' exons, has an alternate 5' UTR exon, and initiates translation at a downstream start codon, compared to variant 3. It encodes isoform c which has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC068594
      Consensus CDS
      CCDS45789.1
      UniProtKB/TrEMBL
      Q7Z3R7
      Related
      ENSP00000389838.1, ENST00000431431.6
      Conserved Domains (3) summary
      smart01100
      Location:222 → 267
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:292 → 456
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:1 → 139
      PRELI; PRELI-like family

    5. NM_001204408.2 → NP_001191337.2  SEC14-like protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and is alternatively spliced in the 3' coding region, compared to variant 1. It encodes isoform b, which is longer than isoform a. This variant is a read-through transcript between the upstream non-coding C17orf86 locus (GeneID:654434) and the downstream SEC14L1 locus (GeneID:6397).
      Source sequence(s)
      AC015815, AC068594
      UniProtKB/TrEMBL
      A5PLM6
      Related
      ENSP00000376268.2, ENST00000392476.6
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    6. NM_001204410.2 → NP_001191339.2  SEC14-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 4 and 7 encode isoform a. This variant is a read-through transcript between the upstream non-coding C17orf86 locus (GeneID:654434) and the downstream SEC14L1 locus (GeneID:6397).
      Source sequence(s)
      AC015815, AC068594, FM995496
      UniProtKB/Swiss-Prot
      A8K4E8, B4DDI5, D5G3K1, Q92503, Q99780
      UniProtKB/TrEMBL
      Q7Z3R7
      Related
      ENSP00000408169.3, ENST00000430767.8
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    7. NM_003003.4 → NP_002994.4  SEC14-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 3, 4 and 7 encode isoform a.
      Source sequence(s)
      AC068594
      UniProtKB/Swiss-Prot
      A8K4E8, B4DDI5, D5G3K1, Q92503, Q99780
      UniProtKB/TrEMBL
      Q7Z3R7
      Related
      ENSP00000466581.1, ENST00000585618.5
      Conserved Domains (3) summary
      smart01100
      Location:256 → 301
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:326 → 490
      CRAL_TRIO; CRAL/TRIO domain
      pfam04707
      Location:17 → 173
      PRELI; PRELI-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      77088685..77217101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77981537..78110663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92503.2 GenPept UniProtKB/Swiss-Prot:Q92503

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