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

Gene ID: 6397, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000177311
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

Genomic context

See SEC14L1 in Genome Data Viewer
Location:
17q25.2-q25.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (77088643..77217101)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (75084725..75213183)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Neighboring gene uncharacterized LOC105371899 Neighboring gene uncharacterized LOC105371900 Neighboring gene small Cajal body-specific RNA 16 Neighboring gene uncharacterized LOC105371901 Neighboring gene microRNA 6516 Neighboring gene small nucleolar RNA host gene 20 Neighboring gene RNA, U4 small nuclear 47, pseudogene Neighboring gene cytochrome c, somatic pseudogene 40 Neighboring gene uncharacterized LOC105371907 Neighboring gene lung adenocarcinoma-associated transcript 1 Neighboring gene HNF4 motif-containing MPRA enhancer 212 Neighboring gene septin 9

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686C06176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RIG-I binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular function regulator IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
choline transport IDA
Inferred from Direct Assay
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
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 
cytoplasm IC
Inferred by Curator
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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_050640.1 RefSeqGene

    Range
    5001..133459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039573.2NP_001034662.2  SEC14-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001034662.2

    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)
    AK290913, BC142979, DB040556, U79284
    Consensus CDS
    CCDS42385.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    A5PLM6
    Related
    ENSP00000406030.3, OTTHUMP00000256331, ENST00000443798.8, OTTHUMT00000436203
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family
  2. NM_001143998.1NP_001137470.1  SEC14-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_001137470.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is the longest transcript but encodes the shortest isoform (a).
    Source sequence(s)
    AC068594, AK290913, BX537448, DB040556
    Consensus CDS
    CCDS11752.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    A0A024R8V1, Q7Z3R7
    Related
    ENSP00000390392.3, OTTHUMP00000256330, ENST00000436233.8, OTTHUMT00000436202
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family
  3. NM_001143999.1NP_001137471.1  SEC14-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_001137471.1

    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)
    AB208811, AC068594, DB040556
    Consensus CDS
    CCDS11752.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    A0A024R8V1, Q59HE8
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family
  4. NM_001144001.1NP_001137473.1  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)
    AB208811, AC068594, AK293206, DB040580
    Consensus CDS
    CCDS45789.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    Q59HE8
    Related
    ENSP00000389838.1, OTTHUMP00000256332, ENST00000431431.6, OTTHUMT00000436204
    Conserved Domains (3) summary
    smart01100
    Location:222267
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:292456
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:1139
    PRELI; PRELI-like family
  5. NM_001204408.1NP_001191337.1  SEC14-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001191337.1

    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, FM995495
    Consensus CDS
    CCDS42385.1
    UniProtKB/Swiss-Prot
    Q92503
    Related
    ENSP00000376268.2, OTTHUMP00000256348, ENST00000392476.6, OTTHUMT00000436239
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family
  6. NM_001204410.1NP_001191339.1  SEC14-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_001191339.1

    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
    Consensus CDS
    CCDS11752.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    A0A024R8V1
    Related
    ENSP00000408169.3, OTTHUMP00000256349, ENST00000430767.8, OTTHUMT00000436240
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family
  7. NM_003003.3NP_002994.3  SEC14-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_002994.3

    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)
    AB208811, AC068594, DA024354, DB040556
    Consensus CDS
    CCDS11752.1
    UniProtKB/Swiss-Prot
    Q92503
    UniProtKB/TrEMBL
    A0A024R8V1, Q59HE8
    Related
    ENSP00000466581.1, OTTHUMP00000256329, ENST00000585618.5, OTTHUMT00000436201
    Conserved Domains (3) summary
    smart01100
    Location:256301
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:326490
    CRAL_TRIO; CRAL/TRIO domain
    pfam04707
    Location:17173
    PRELI; PRELI-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    77088643..77217101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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