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

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

Summary

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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
all
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Genomic context

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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

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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. The lipid-binding SEC14 domain. Saito K, et al. Biochim Biophys Acta, 2007 Jun. PMID 17428729
  2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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

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

General gene information

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Homology

Gene Ontology Provided by GOA

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
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_001193336.4 → NP_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: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

  2. NM_001353441.2 → NP_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:29 → 190
    CRAL_TRIO; CRAL/TRIO domain

  3. NM_001353443.2 → NP_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:29 → 190
    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_017028933.2 → XP_016884422.1  putative SEC14-like protein 6 isoform X9

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

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

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

    Related
    ENSP00000510727.1, ENST00000691669.1

  5. XM_011530360.3 → XP_011528662.1  putative SEC14-like protein 6 isoform X7

    Conserved Domains (2) summary
    pfam00650
    Location:100 → 198
    CRAL_TRIO; CRAL/TRIO domain
    pfam13897
    Location:238 → 335
    GOLD_2; Golgi-dynamics membrane-trafficking

  6. XM_011530358.3 → XP_011528660.1  putative SEC14-like protein 6 isoform X5

    Conserved Domains (2) summary
    pfam00650
    Location:100 → 229
    CRAL_TRIO; CRAL/TRIO domain
    pfam13897
    Location:269 → 366
    GOLD_2; Golgi-dynamics membrane-trafficking

  7. XM_024452267.2 → XP_024308035.1  putative SEC14-like protein 6 isoform X8

    Conserved Domains (1) summary
    pfam00650
    Location:100 → 261
    CRAL_TRIO; CRAL/TRIO domain

  8. XM_011530357.3 → XP_011528659.1  putative SEC14-like protein 6 isoform X3

    Conserved Domains (2) summary
    pfam00650
    Location:100 → 261
    CRAL_TRIO; CRAL/TRIO domain
    pfam13897
    Location:301 → 398
    GOLD_2; Golgi-dynamics membrane-trafficking

  9. XM_047441481.1 → XP_047297437.1  putative SEC14-like protein 6 isoform X1

  10. XM_047441484.1 → XP_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_054325898.1 → XP_054181873.1  putative SEC14-like protein 6 isoform X9

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

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

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

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

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

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B5MCN3.1 GenPept UniProtKB/Swiss-Prot:B5MCN3

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