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

Gene ID: 284904, updated on 5-Aug-2022

Summary

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
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Genomic context

See SEC14L4 in Genome Data Viewer
Location:
22q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30488902..30505695, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30952312..30969100, complement)
105.20220307 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 SEC14 like lipid binding 6 Neighboring gene signal regulatory protein alpha pseudogene 1 Neighboring gene galactose-3-O-sulfotransferase 1

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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 

General protein information

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_001161368.3NP_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/Swiss-Prot
    Q9UDX3
    UniProtKB/TrEMBL
    B2RMR2, B3KRP9
    Related
    ENSP00000371412.3, ENST00000381982.3
    Conserved Domains (3) summary
    smart00516
    Location:76244
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:1359
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam13897
    Location:284319
    GOLD_2; Golgi-dynamics membrane-trafficking
  2. NM_174977.4NP_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
    A6NCV4, Q9UDX3
    UniProtKB/TrEMBL
    B2RMR2, B3KRP9
    Related
    ENSP00000255858.7, ENST00000255858.12
    Conserved Domains (3) summary
    smart00516
    Location:76244
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:1359
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam13897
    Location:284381
    GOLD_2; Golgi-dynamics membrane-trafficking

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

mRNA and Protein(s)

  1. XM_017028791.2XP_016884280.1  SEC14-like protein 4 isoform X5

    UniProtKB/TrEMBL
    Q6ICM2
    Conserved Domains (2) summary
    smart00516
    Location:22190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    pfam13897
    Location:230327
    GOLD_2; Golgi-dynamics membrane-trafficking
  2. XM_047441348.1XP_047297304.1  SEC14-like protein 4 isoform X3

  3. XM_047441347.1XP_047297303.1  SEC14-like protein 4 isoform X1

  4. XM_017028788.2XP_016884277.1  SEC14-like protein 4 isoform X4

  5. XM_011530164.3XP_011528466.1  SEC14-like protein 4 isoform X7

    See identical proteins and their annotated locations for XP_011528466.1

    Conserved Domains (2) summary
    smart00516
    Location:61229
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    pfam13897
    Location:269366
    GOLD_2; Golgi-dynamics membrane-trafficking
  6. XM_017028787.2XP_016884276.1  SEC14-like protein 4 isoform X2

  7. XM_017028790.2XP_016884279.1  SEC14-like protein 4 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    30952312..30969100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)