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

Gene ID: 388649, updated on 23-Nov-2023

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 located in chromosome. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92217915..92245813)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92062827..92090715)
105.20220307 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. 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
  2. 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
  3. 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
  4. Finishing the euchromatic sequence of the human genome. International Human Genome Sequencing Consortium. Nature, 2004 Oct 21. PMID 15496913
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) 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)

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 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_2023_10

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

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