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    C1orf146 chromosome 1 open reading frame 146 [ Homo sapiens (human) ]

    Gene ID: 388649, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1orf146provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 146provided by HGNC
    Primary source
    HGNC:HGNC:24032
    See related
    Ensembl:ENSG00000203910 MIM:618968; AllianceGenome:HGNC:24032
    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
    SCRE; SPO16
    Summary
    Predicted to be involved in reciprocal meiotic recombination and synaptonemal complex assembly. Predicted to be active in chromosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 3.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf146 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92217915..92245813)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92062827..92090715)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92683472..92711370)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BTB domain containing 8 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha pseudogene 1 Neighboring gene zinc finger protein 510 pseudogene Neighboring gene ACTB pseudogene 12 Neighboring gene MPRA-validated peak316 silencer Neighboring gene glomulin, FKBP associated protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:92763642-92764538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1312 Neighboring gene Sharpr-MPRA regulatory region 6980 Neighboring gene RNA polymerase II associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1313 Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene

    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. Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency. Qi Y, et al. Clin Genet, 2023 Oct. PMID 37270785
    2. LOC689986, a unique gene showing specific expression in restricted areas of the rodent neocortex. Ersland KM, et al. BMC Neurosci, 2013 Jul 11. PMID 23844656, Free PMC Article
    3. SPO16 binds SHOC1 to promote homologous recombination and crossing-over in meiotic prophase I. Zhang Q, et al. Sci Adv, 2019 Jan. PMID 30746471, Free PMC Article
    4. SCRE serves as a unique synaptonemal complex fastener and is essential for progression of meiosis prophase I in mice. Liu H, et al. Nucleic Acids Res, 2019 Jun 20. PMID 30949703, Free PMC Article
    5. Finishing the euchromatic sequence of the human genome. International Human Genome Sequencing Consortium. Nature, 2004 Oct 21. PMID 15496913

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency.
      Title: Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency.
    Submit: New GeneRIF Correction

    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)

    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 reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptonemal complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptonemal complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein SPO16 homolog
    Names
    synaptonemal complex reinforcing element
    uncharacterized protein C1orf146

    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_001012425.2 → NP_001012425.1  protein SPO16 homolog

      See identical proteins and their annotated locations for NP_001012425.1

      Status: VALIDATED

      Source sequence(s)
      AA861282, AL451010, BU567193
      Consensus CDS
      CCDS30772.1
      UniProtKB/Swiss-Prot
      Q5VVC0, Q5VVC4
      Related
      ENSP00000359401.3, ENST00000370375.8
      Conserved Domains (1) summary
      pfam15162
      Location:9 → 170
      DUF4580; Domain of unknown function (DUF4580)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      92217915..92245813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541447.3 → XP_011539749.1  protein SPO16 homolog isoform X1

      See identical proteins and their annotated locations for XP_011539749.1

      UniProtKB/Swiss-Prot
      Q5VVC0, Q5VVC4
      Conserved Domains (1) summary
      pfam15162
      Location:9 → 170
      DUF4580; Domain of unknown function (DUF4580)

    2. XM_047420086.1 → XP_047276042.1  protein SPO16 homolog isoform X2

      UniProtKB/TrEMBL
      X6R7K4

    3. XM_047420085.1 → XP_047276041.1  protein SPO16 homolog isoform X2

      UniProtKB/TrEMBL
      X6R7K4
      Related
      ENSP00000359399.2, ENST00000370373.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92062827..92090715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336522.1 → XP_054192497.1  protein SPO16 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q5VVC0, Q5VVC4

    2. XM_054336524.1 → XP_054192499.1  protein SPO16 homolog isoform X2

      UniProtKB/TrEMBL
      X6R7K4

    3. XM_054336523.1 → XP_054192498.1  protein SPO16 homolog isoform X2

      UniProtKB/TrEMBL
      X6R7K4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VVC0.1 GenPept UniProtKB/Swiss-Prot:Q5VVC0

    Gene LinkOut

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

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    Research Materials