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    SEC14L4 SEC14 like lipid binding 4 [ Homo sapiens (human) ]

    Gene ID: 284904, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SEC14L4provided by HGNC
    Official Full Name
    SEC14 like lipid binding 4provided by HGNC
    Primary source
    HGNC:HGNC:20627
    See related
    Ensembl:ENSG00000133488 MIM:612825; AllianceGenome:HGNC:20627
    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
    TAP3
    Summary
    The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
    Expression
    Biased expression in liver (RPKM 6.0), lung (RPKM 3.5) and 4 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SEC14L4 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30488902..30505695, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30952312..30969100, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30884889..30901682, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985579 Neighboring gene syndecan 4 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10283 Neighboring gene SEC14 like lipid binding 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30938591-30939583 Neighboring gene signal regulatory protein alpha pseudogene 1 Neighboring gene galactose-3-O-sulfotransferase 1 Neighboring gene MPRA-validated peak4480 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30967053-30967554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969210-30969891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969892-30970572

    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. Alternative splicing and gene polymorphism of the human TAP3/SEC14L4 gene. Kempna P, et al. Mol Biol Rep, 2010 Oct. PMID 20012369
    2. Cloning of novel human SEC14p-like proteins: ligand binding and functional properties. Kempná P, et al. Free Radic Biol Med, 2003 Jun 1. PMID 12757856
    3. Rat supernatant protein factor-like protein stimulates squalene monooxygenase and is activated by protein kinase A. Mokashi V, et al. Biochem Biophys Res Commun, 2004 Apr 9. PMID 15033454
    4. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Discusses cloning of rat SEC14-like protein 3 and mentions three human SPF-related genes, known as SEC14-like protein 1, 2 and 3.
      Title: Rat supernatant protein factor-like protein stimulates squalene monooxygenase and is activated by protein kinase A.
    2. The isolation of an alternatively spliced hTAP3 cDNA and a polymorphism within the coding region of the hTAP3/SEC14L4 gene, is reported.
      Title: Alternative splicing and gene polymorphism of the human TAP3/SEC14L4 gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 4
    Names
    SEC14-like 4
    SEC14p-like protein TAP3
    tocopherol-associated protein 3

    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_001161368.3 → NP_001154840.1  SEC14-like protein 4 isoform b

      See identical proteins and their annotated locations for NP_001154840.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1, that results in a frameshift. It encodes isoform b, which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC004832, AK092002, AK093448, BC139912
      Consensus CDS
      CCDS54517.1
      UniProtKB/TrEMBL
      Q6ICM2
      Related
      ENSP00000371412.3, ENST00000381982.3
      Conserved Domains (3) summary
      smart00516
      Location:76 → 244
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:13 → 59
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam13897
      Location:284 → 319
      GOLD_2; Golgi-dynamics membrane-trafficking

    2. NM_174977.4 → NP_777637.1  SEC14-like protein 4 isoform a

      See identical proteins and their annotated locations for NP_777637.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (a).
      Source sequence(s)
      AC004832, AK093448, T72380
      Consensus CDS
      CCDS13878.1
      UniProtKB/Swiss-Prot
      A5D6W7, A6NCV4, Q9UDX3
      UniProtKB/TrEMBL
      B2RMR2, Q6ICM2
      Related
      ENSP00000255858.7, ENST00000255858.12
      Conserved Domains (3) summary
      smart00516
      Location:76 → 244
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:13 → 59
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam13897
      Location:284 → 381
      GOLD_2; Golgi-dynamics membrane-trafficking

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30488902..30505695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30952312..30969100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UDX3.1 GenPept UniProtKB/Swiss-Prot:Q9UDX3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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