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    SEC14L2 SEC14 like lipid binding 2 [ Homo sapiens (human) ]

    Gene ID: 23541, updated on 12-Mar-2017
    Official Symbol
    SEC14L2provided by HGNC
    Official Full Name
    SEC14 like lipid binding 2provided by HGNC
    Primary source
    HGNC:HGNC:10699
    See related
    Ensembl:ENSG00000100003 MIM:607558; Vega:OTTHUMG00000151024
    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
    SPF; TAP; TAP1; C22orf6
    Summary
    This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
    Orthologs
    Location:
    22q12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (30396941..30425303)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30792930..30821291)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 157 Neighboring gene KIAA1656 protein Neighboring gene ring finger protein 215 Neighboring gene uncharacterized LOC105372989 Neighboring gene RNA, U6 small nuclear 564, pseudogene Neighboring gene uncharacterized LOC105372990 Neighboring gene mitochondrial fission process 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: MTFP1

    Homology

    Clone Names

    • KIAA1186, KIAA1658, MGC65053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phospholipid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin E binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of cholesterol biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    SEC14-like protein 2
    Names
    alpha-tocopherol-associated protein
    squalene transfer protein
    supernatant protein factor
    tocopherol-associated protein 1

    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_001204204.2NP_001191133.1  SEC14-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AA610131, AC004832, AK303751, DC375707, KF511442
      Consensus CDS
      CCDS56228.1
      UniProtKB/Swiss-Prot
      O76054
      Related
      ENSP00000383882, OTTHUMP00000276295, ENST00000402592, OTTHUMT00000476909
      Conserved Domains (1) summary
      pfam00650
      Location:32161
      CRAL_TRIO; CRAL/TRIO domain
    2. NM_001291932.1NP_001278861.1  SEC14-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001278861.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon and begins translation at a downstream start codon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA610131, AC004832, AK296540, DC375707, KF511442
      UniProtKB/TrEMBL
      B7Z3Z8
      Related
      ENSP00000482467, OTTHUMP00000276294, ENST00000617837, OTTHUMT00000321020
      Conserved Domains (1) summary
      smart00516
      Location:22190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    3. NM_012429.4NP_036561.1  SEC14-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_036561.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA610131, AC004832, AL096881, DC375707
      Consensus CDS
      CCDS13876.1
      UniProtKB/Swiss-Prot
      O76054
      UniProtKB/TrEMBL
      A0A024R1I5
      Related
      ENSP00000478755, OTTHUMP00000276293, ENST00000615189, OTTHUMT00000321018
      Conserved Domains (2) 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
    4. NM_033382.2NP_203740.1  SEC14-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_203740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC004832, BC058915, BM680990, DC375707
      Consensus CDS
      CCDS46685.1
      UniProtKB/Swiss-Prot
      O76054
      Related
      ENSP00000385186, OTTHUMP00000198974, ENST00000405717, OTTHUMT00000321021
      Conserved Domains (2) 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      30396941..30425303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      30752095..30780850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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