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    SYCE1L synaptonemal complex central element protein 1 like [ Homo sapiens (human) ]

    Gene ID: 100130958, updated on 17-Jun-2024

    Summary

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    Official Symbol
    SYCE1Lprovided by HGNC
    Official Full Name
    synaptonemal complex central element protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:37236
    See related
    Ensembl:ENSG00000205078 MIM:619954; AllianceGenome:HGNC:37236
    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
    Also known as
    MRP2
    Summary
    Predicted to be involved in synaptonemal complex assembly. Located in intermediate filament cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 20.9), urinary bladder (RPKM 20.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SYCE1L in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (77199408..77213215)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (83255583..83269389)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (77233305..77247112)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44883 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:77098253-77098456 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:77113401-77113619 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44931 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45056 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45133 Neighboring gene MPRA-validated peak2646 silencer Neighboring gene uncharacterized LOC124903725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:77224805-77225753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45171 Neighboring gene uncharacterized LOC124903726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:77246135-77247108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11151 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45200 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45205 Neighboring gene MON1 homolog B, secretory trafficking associated Neighboring gene vomeronasal 2 receptor 10, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:77322970-77324169 Neighboring gene uncharacterized LOC124903727 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 18

    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. Identification of a new transcript specifically expressed in mouse spermatocytes: mmrp2. Gu S, et al. Mol Biol Rep, 2005 Dec. PMID 16328886
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in synaptonemal complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in synaptonemal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    synaptonemal complex central element protein 1-like
    Names
    meiosis-related protein

    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_001129979.3 → NP_001123451.1  synaptonemal complex central element protein 1-like isoform 1

      See identical proteins and their annotated locations for NP_001123451.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009139
      Consensus CDS
      CCDS45533.1
      UniProtKB/Swiss-Prot
      A6NF23, A8MT33
      Related
      ENSP00000367911.4, ENST00000378644.5
      Conserved Domains (1) summary
      pfam15233
      Location:47 → 164
      SYCE1; Synaptonemal complex central element protein 1

    2. NM_001348924.2 → NP_001335853.1  synaptonemal complex central element protein 1-like isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC009139
      Conserved Domains (1) summary
      pfam15233
      Location:47 → 123
      SYCE1; Synaptonemal complex central element protein 1

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      77199408..77213215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      83255583..83269389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MT33.3 GenPept UniProtKB/Swiss-Prot:A8MT33

    Gene LinkOut

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

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