UniProt functional annotation for Q8IZU3



	UniProt functional annotation for Q8IZU3

UniProt code: Q8IZU3.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity). {ECO:0000250|UniProtKB:P70281, ECO:0000269|PubMed:14643120}.

Subunit: Component of the lateral elements of synaptonemal complexes (By similarity). Homotetramer; the tetrameric helix bundles assemble end to end into long homopolimeric fibers that exhibit a transversal striation with a periodicity of about 20 nm (in vitro) (PubMed:24950965). Interacts with SYCP2 (By similarity). Forms a complex with EWSR1, PRDM9, REC8 and SYCP1; complex formation is dependent of phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA; EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By similarity). {ECO:0000250|UniProtKB:P70281, ECO:0000250|UniProtKB:Q63520, ECO:0000269|PubMed:24950965}.

Subcellular location: Nucleus {ECO:0000250|UniProtKB:Q60547}. Chromosome {ECO:0000250|UniProtKB:Q60547}. Chromosome, centromere {ECO:0000250|UniProtKB:Q60547}. Note=It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres. {ECO:0000250|UniProtKB:Q60547}.

Tissue specificity: Testis-specific. {ECO:0000269|PubMed:12213195, ECO:0000269|PubMed:14643120}.

Domain: Composed of a long central coiled coil domain. The N-terminal and C-terminal regions interact with DNA. {ECO:0000269|PubMed:24950965}.

Ptm: Phosphorylated. {ECO:0000250|UniProtKB:P70281}.

Disease: Spermatogenic failure 4 (SPGF4) [MIM:270960]: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes. {ECO:0000269|PubMed:14643120}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Pregnancy loss, recurrent, 4 (RPRGL4) [MIM:270960]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269|PubMed:19110213}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity: Belongs to the XLR/SYCP3 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity). {ECO:0000250\|UniProtKB:P70281, ECO:0000269\|PubMed:14643120}.


Subunit:		Component of the lateral elements of synaptonemal complexes (By similarity). Homotetramer; the tetrameric helix bundles assemble end to end into long homopolimeric fibers that exhibit a transversal striation with a periodicity of about 20 nm (in vitro) (PubMed:24950965). Interacts with SYCP2 (By similarity). Forms a complex with EWSR1, PRDM9, REC8 and SYCP1; complex formation is dependent of phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA; EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By similarity). {ECO:0000250\|UniProtKB:P70281, ECO:0000250\|UniProtKB:Q63520, ECO:0000269\|PubMed:24950965}.
Subcellular location:		Nucleus {ECO:0000250\|UniProtKB:Q60547}. Chromosome {ECO:0000250\|UniProtKB:Q60547}. Chromosome, centromere {ECO:0000250\|UniProtKB:Q60547}. Note=It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres. {ECO:0000250\|UniProtKB:Q60547}.
Tissue specificity:		Testis-specific. {ECO:0000269\|PubMed:12213195, ECO:0000269\|PubMed:14643120}.
Domain:		Composed of a long central coiled coil domain. The N-terminal and C-terminal regions interact with DNA. {ECO:0000269\|PubMed:24950965}.
Ptm:		Phosphorylated. {ECO:0000250\|UniProtKB:P70281}.
Disease:		Spermatogenic failure 4 (SPGF4) [MIM:270960]: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes. {ECO:0000269\|PubMed:14643120}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Pregnancy loss, recurrent, 4 (RPRGL4) [MIM:270960]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269\|PubMed:19110213}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Similarity:		Belongs to the XLR/SYCP3 family. {ECO:0000305}.