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    SEC14L6 SEC14 like lipid binding 6 [ Homo sapiens (human) ]

    Gene ID: 730005, updated on 3-Apr-2024

    Summary

    Official Symbol
    SEC14L6provided by HGNC
    Official Full Name
    SEC14 like lipid binding 6provided by HGNC
    Primary source
    HGNC:HGNC:40047
    See related
    Ensembl:ENSG00000214491 AllianceGenome:HGNC:40047
    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
    Expression
    Biased expression in lung (RPKM 3.6), kidney (RPKM 2.7) and 10 other tissues See more
    Orthologs
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    Genomic context

    See SEC14L6 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30522799..30546741, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30986201..31010146, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30918786..30942728, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985579 Neighboring gene SEC14 like lipid binding 4 Neighboring gene Sharpr-MPRA regulatory region 10283 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 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 Neighboring gene pescadillo ribosomal biogenesis factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30987725-30988440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526

    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

    General protein information

    Preferred Names
    putative SEC14-like protein 6
    Names
    SEC14-like 6

    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_001193336.4NP_001180265.2  putative SEC14-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001180265.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC004832
      Consensus CDS
      CCDS54518.1
      UniProtKB/Swiss-Prot
      B5MCN3
      Related
      ENSP00000385695.1, ENST00000402034.7
      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
    2. NM_001353441.2NP_001340370.1  putative SEC14-like protein 6 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC004832
      Consensus CDS
      CCDS93147.1
      UniProtKB/TrEMBL
      A0A8I5KSJ2, A0A8I5QKM7
      Related
      ENSP00000509726.1, ENST00000687338.1
      Conserved Domains (1) summary
      pfam00650
      Location:29190
      CRAL_TRIO; CRAL/TRIO domain
    3. NM_001353443.2NP_001340372.1  putative SEC14-like protein 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate 3' exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC004832
      Consensus CDS
      CCDS93146.1
      UniProtKB/TrEMBL
      A0A8I5KVX3, H7C077
      Related
      ENSP00000510258.1, ENST00000687231.1
      Conserved Domains (1) summary
      pfam00650
      Location:29190
      CRAL_TRIO; CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      30522799..30546741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028933.2XP_016884422.1  putative SEC14-like protein 6 isoform X9

    2. XM_047441483.1XP_047297439.1  putative SEC14-like protein 6 isoform X2

    3. XM_047441482.1XP_047297438.1  putative SEC14-like protein 6 isoform X1

    4. XM_047441485.1XP_047297441.1  putative SEC14-like protein 6 isoform X6

      Related
      ENSP00000510727.1, ENST00000691669.1
    5. XM_011530360.3XP_011528662.1  putative SEC14-like protein 6 isoform X7

      Conserved Domains (2) summary
      pfam00650
      Location:100198
      CRAL_TRIO; CRAL/TRIO domain
      pfam13897
      Location:238335
      GOLD_2; Golgi-dynamics membrane-trafficking
    6. XM_011530358.3XP_011528660.1  putative SEC14-like protein 6 isoform X5

      Conserved Domains (2) summary
      pfam00650
      Location:100229
      CRAL_TRIO; CRAL/TRIO domain
      pfam13897
      Location:269366
      GOLD_2; Golgi-dynamics membrane-trafficking
    7. XM_024452267.2XP_024308035.1  putative SEC14-like protein 6 isoform X8

      Conserved Domains (1) summary
      pfam00650
      Location:100261
      CRAL_TRIO; CRAL/TRIO domain
    8. XM_011530357.3XP_011528659.1  putative SEC14-like protein 6 isoform X3

      Conserved Domains (2) summary
      pfam00650
      Location:100261
      CRAL_TRIO; CRAL/TRIO domain
      pfam13897
      Location:301398
      GOLD_2; Golgi-dynamics membrane-trafficking
    9. XM_047441481.1XP_047297437.1  putative SEC14-like protein 6 isoform X1

    10. XM_047441484.1XP_047297440.1  putative SEC14-like protein 6 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30986201..31010146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325898.1XP_054181873.1  putative SEC14-like protein 6 isoform X9

    2. XM_054325891.1XP_054181866.1  putative SEC14-like protein 6 isoform X2

    3. XM_054325895.1XP_054181870.1  putative SEC14-like protein 6 isoform X6

    4. XM_054325896.1XP_054181871.1  putative SEC14-like protein 6 isoform X7

    5. XM_054325894.1XP_054181869.1  putative SEC14-like protein 6 isoform X5

    6. XM_054325897.1XP_054181872.1  putative SEC14-like protein 6 isoform X8

    7. XM_054325892.1XP_054181867.1  putative SEC14-like protein 6 isoform X3

    8. XM_054325889.1XP_054181864.1  putative SEC14-like protein 6 isoform X1

    9. XM_054325890.1XP_054181865.1  putative SEC14-like protein 6 isoform X1

    10. XM_054325893.1XP_054181868.1  putative SEC14-like protein 6 isoform X4