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

    Gene ID: 9717, updated on 27-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
    mouse all
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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
    • 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)

    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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