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SEC14L5 SEC14 like lipid binding 5 [ Homo sapiens (human) ]

Gene ID: 9717, updated on 2-Nov-2024

Summary

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Official Symbol
SEC14L5provided by HGNC
Official Full Name
SEC14 like lipid binding 5provided by HGNC
Primary source
HGNC:HGNC:29032
See related
Ensembl:ENSG00000103184 MIM:619412; AllianceGenome:HGNC:29032
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRELID4B
Summary
Predicted to be located in mitochondrial intermembrane space. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 6.8), heart (RPKM 1.4) and 3 other tissues See more
Orthologs
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Genomic context

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See SEC14L5 in Genome Data Viewer
Location:
16p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4958330..5019157)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4987819..5048658)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5008331..5069158)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4945259-4946104 Neighboring gene uncharacterized LOC124903637 Neighboring gene periplakin Neighboring gene uncharacterized LOC105371064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4968443-4968998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4978324-4978894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4992871-4993384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4993385-4993898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4993899-4994412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4997813-4998570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5008323-5008858 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5019509-5020008 Neighboring gene Sharpr-MPRA regulatory region 439 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:5051228-5051419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5060637-5061160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5061161-5061684 Neighboring gene Sharpr-MPRA regulatory region 11332 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:5078448-5079647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5083173-5083674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10347 Neighboring gene NAGPA antisense RNA 1 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Neighboring gene chromosome 16 open reading frame 89 Neighboring gene Sharpr-MPRA regulatory region 9075

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 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. Prediction of Possible Biomarkers and Novel Pathways Conferring Risk to Post-Traumatic Stress Disorder. Chitrala KN, et al. PLoS One, 2016. PMID 27997584, Free PMC Article
  2. The lipid-binding SEC14 domain. Saito K, et al. Biochim Biophys Acta, 2007 Jun. PMID 17428729
  3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1997 Oct 31. PMID 9455477
  4. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
  5. FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3. Jozwik KM, et al. Cell Rep, 2016 Dec 6. PMID 27926873, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
SEC14-like protein 5
Names
SEC14-like 5

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.

mRNA and Protein(s)

  1. NM_014692.2 → NP_055507.1  SEC14-like protein 5

    See identical proteins and their annotated locations for NP_055507.1

    Status: VALIDATED

    Source sequence(s)
    AB007880, AC007011, AC026458
    Consensus CDS
    CCDS45403.1
    UniProtKB/Swiss-Prot
    O43304
    Related
    ENSP00000251170.6, ENST00000251170.12
    Conserved Domains (3) summary
    smart00516
    Location:306 → 479
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:243 → 288
    CRAL_TRIO_N; CRAL/TRIO, N-terminal 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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    4958330..5019157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450497.2 → XP_024306265.1  SEC14-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    O43304
    Conserved Domains (3) summary
    smart00516
    Location:306 → 479
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:243 → 288
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam04707
    Location:17 → 173
    PRELI; PRELI-like family

  2. XM_024450498.2 → XP_024306266.1  SEC14-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    O43304
    Conserved Domains (3) summary
    smart00516
    Location:306 → 479
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:243 → 288
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam04707
    Location:17 → 173
    PRELI; PRELI-like family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    4987819..5048658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314487.1 → XP_054170462.1  SEC14-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    O43304

  2. XM_054314486.1 → XP_054170461.1  SEC14-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    O43304
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43304.3 GenPept UniProtKB/Swiss-Prot:O43304

Gene LinkOut

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