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SYCP3 synaptonemal complex protein 3 [ Homo sapiens (human) ]

Gene ID: 50511, updated on 2-Nov-2024

Summary

Official Symbol
SYCP3provided by HGNC
Official Full Name
synaptonemal complex protein 3provided by HGNC
Primary source
HGNC:HGNC:18130
See related
Ensembl:ENSG00000139351 MIM:604759; AllianceGenome:HGNC:18130
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COR1; SCP3; SPGF4; RPRGL4
Summary
This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]
Expression
Broad expression in testis (RPKM 35.2), duodenum (RPKM 4.0) and 14 other tissues See more
Orthologs
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Genomic context

See SYCP3 in Genome Data Viewer
Location:
12q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101728648..101739462, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101689875..101700721, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102122426..102133240, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin binding protein C1 Neighboring gene uncharacterized LOC124902996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4770 Neighboring gene choline phosphotransferase 1 Neighboring gene RNY1 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6866 Neighboring gene uncharacterized LOC124902997 Neighboring gene N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Neighboring gene RNA, U6 small nuclear 101, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC71888

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in male meiosis I NAS
Non-traceable Author Statement
more info
PubMed 
involved_in meiotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sperm DNA condensation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatid development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in chromosome, centromeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lateral element ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synaptonemal complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in synaptonemal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
synaptonemal complex protein 3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_021181.1 RefSeqGene

    Range
    5008..15822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177948.2NP_001171419.1  synaptonemal complex protein 3

    See identical proteins and their annotated locations for NP_001171419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC063950, AF517774
    Consensus CDS
    CCDS9087.1
    UniProtKB/Swiss-Prot
    Q8IZU3
    Related
    ENSP00000266743.2, ENST00000266743.6
    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region
  2. NM_001177949.2NP_001171420.1  synaptonemal complex protein 3

    See identical proteins and their annotated locations for NP_001171420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC063950, AF492003, BG201028
    Consensus CDS
    CCDS9087.1
    UniProtKB/Swiss-Prot
    Q8IZU3
    Related
    ENSP00000376655.1, ENST00000392924.2
    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region
  3. NM_153694.5NP_710161.1  synaptonemal complex protein 3

    See identical proteins and their annotated locations for NP_710161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC062662, BG202454
    Consensus CDS
    CCDS9087.1
    UniProtKB/Swiss-Prot
    Q8IZU3
    Related
    ENSP00000376658.3, ENST00000392927.7
    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    101728648..101739462 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538421.4XP_011536723.3  synaptonemal complex protein 3 isoform X1

  2. XM_005268927.3XP_005268984.1  synaptonemal complex protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005268984.1

    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region
  3. XM_005268922.6XP_005268979.4  synaptonemal complex protein 3 isoform X1

  4. XM_005268924.2XP_005268981.1  synaptonemal complex protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005268981.1

    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region
  5. XM_047428913.1XP_047284869.1  synaptonemal complex protein 3 isoform X1

  6. XM_005268926.5XP_005268983.1  synaptonemal complex protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005268983.1

    Conserved Domains (1) summary
    pfam04803
    Location:83214
    Cor1; Cor1/Xlr/Xmr conserved region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    101689875..101700721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372144.1XP_054228119.1  synaptonemal complex protein 3 isoform X1

  2. XM_054372147.1XP_054228122.1  synaptonemal complex protein 3 isoform X1

  3. XM_054372143.1XP_054228118.1  synaptonemal complex protein 3 isoform X1

  4. XM_054372145.1XP_054228120.1  synaptonemal complex protein 3 isoform X1

  5. XM_054372146.1XP_054228121.1  synaptonemal complex protein 3 isoform X1