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    SYT14P1 synaptotagmin 14 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 401135, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SYT14P1provided by HGNC
    Official Full Name
    synaptotagmin 14 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:33429
    See related
    MIM:610892; AllianceGenome:HGNC:33429
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SYT14L; SYTDEP; CHR415SYT
    Summary
    Predicted to enable phospholipid binding activity. Involved in positive regulation of CREB transcription factor activity; positive regulation of ERK1 and ERK2 cascade; and positive regulation of dendrite extension. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See SYT14P1 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68060610..68063297, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71503796..71506479, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68926328..68929015, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene POLR2M pseudogene 1 Neighboring gene MT-ND2 pseudogene 41 Neighboring gene transmembrane serine protease 11F Neighboring gene uncharacterized LOC550113 Neighboring gene solute carrier family 47 member 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr4:68979095-68979596 Neighboring gene TMPRSS11B N-terminal like (pseudogene) Neighboring gene ferritin light chain pseudogene 10

    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. Cloning and genomic characterization of sytdep, a new synaptotagmin XIV-related gene. Herrero-Turrión MJ, et al. Biochem Biophys Res Commun, 2006 Feb 10. PMID 16376304
    2. Genomic analysis of synaptotagmin genes. Craxton M. Genomics, 2001 Sep. PMID 11543631
    3. Synaptotagmin gene content of the sequenced genomes. Craxton M. BMC Genomics, 2004 Jul 6. PMID 15238157, Free PMC Article
    4. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. Yoo JC, et al. J Dermatol Sci, 2013 Dec. PMID 23999003
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SYT14L, especially its C2 domain, may play an important role in the regulation of dendricity in melanocytes.
      Title: SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.
    2. Genomic analyses suggest that human sytdep could derive from a retrotranslocation of a synaptotagmin XIV transcript into chromosome 4.
      Title: Cloning and genomic characterization of sytdep, a new synaptotagmin XIV-related gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • chr415 synaptotagmin
    • synaptotagmin XIV pseudogene 1
    • synaptotagmin XIV-derived
    • synaptotagmin XIV-like

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of CREB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of dendrite extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    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.

    RNA

    1. NR_027094.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY954513, BC132697, CR740599

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      68060610..68063297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71503796..71506479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001014372.3: Suppressed sequence

      Description
      NM_001014372.3: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q58G82.2 GenPept UniProtKB/Swiss-Prot:Q58G82

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.