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

Gene ID: 284904, updated on 2-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 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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

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