S6OS1_HUMAN
ID S6OS1_HUMAN Reviewed; 587 AA.
AC Q8N1H7; Q08AQ4;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Protein SIX6OS1;
DE AltName: Full=Six6 opposite strand transcript 1 {ECO:0000312|HGNC:HGNC:19849};
GN Name=SIX6OS1 {ECO:0000312|HGNC:HGNC:19849}; Synonyms=C14orf39;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-404.
RC TISSUE=Stomach cancer;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-404.
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-404.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=15703187; DOI=10.1093/hmg/ddi084;
RA Alfano G., Vitiello C., Caccioppoli C., Caramico T., Carola A., Szego M.J.,
RA McInnes R.R., Auricchio A., Banfi S.;
RT "Natural antisense transcripts associated with genes involved in eye
RT development.";
RL Hum. Mol. Genet. 14:913-923(2005).
RN [6]
RP INVOLVEMENT IN SPGF52 AND POF18, VARIANT SPGF52 320-GLU--PHE-587 DEL,
RP CHARACTERIZATION OF VARIANT SPGF52 320-GLU--PHE-587 DEL, AND TISSUE
RP SPECIFICITY.
RX PubMed=33508233; DOI=10.1016/j.ajhg.2021.01.010;
RA Fan S., Jiao Y., Khan R., Jiang X., Javed A.R., Ali A., Zhang H., Zhou J.,
RA Naeem M., Murtaza G., Li Y., Yang G., Zaman Q., Zubair M., Guan H.,
RA Zhang X., Ma H., Jiang H., Ali H., Dil S., Shah W., Ahmad N., Zhang Y.,
RA Shi Q.;
RT "Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia
RT and premature ovarian insufficiency in humans.";
RL Am. J. Hum. Genet. 108:324-336(2021).
CC -!- FUNCTION: Meiotic protein that localizes to the central element of the
CC synaptonemal complex and is required for chromosome synapsis during
CC meiotic recombination. Required for the appropriate processing of
CC intermediate recombination nodules before crossover formation.
CC {ECO:0000250|UniProtKB:Q9CTN5}.
CC -!- SUBUNIT: Interacts with SYCE1 (By similarity). Interacts with
CC proteasome subunit PSMA8; to participate in meiosis progression during
CC spermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q9CTN5}.
CC -!- INTERACTION:
CC Q8N1H7; O60760: HPGDS; NbExp=3; IntAct=EBI-12182077, EBI-10187349;
CC Q8N1H7; P80297: MT1X; NbExp=3; IntAct=EBI-12182077, EBI-11308402;
CC Q8N1H7; Q15562-2: TEAD2; NbExp=3; IntAct=EBI-12182077, EBI-9370956;
CC Q8N1H7; O76024: WFS1; NbExp=3; IntAct=EBI-12182077, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q9CTN5}.
CC Note=Component of the central element of the synaptonemal complex. In
CC spermatocytes, detected from zygonema to pachynema and localizes along
CC synapsed lateral elements. Loading to the central element of the
CC synaptonemal complex is dependent on the assembly of the tripartite
CC synaptonemal complex structure that occurs upon synapsis between
CC homologous chromosomes. {ECO:0000250|UniProtKB:Q9CTN5}.
CC -!- TISSUE SPECIFICITY: Highest expression in retina, skeletal muscle,
CC testis and colon. {ECO:0000269|PubMed:15703187,
CC ECO:0000269|PubMed:33508233}.
CC -!- DISEASE: Spermatogenic failure 52 (SPGF52) [MIM:619202]: An autosomal
CC recessive infertility disorder characterized by azoospermia due to
CC meiotic arrest at the spermatocyte stage.
CC {ECO:0000269|PubMed:33508233}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Premature ovarian failure 18 (POF18) [MIM:619203]: A form of
CC premature ovarian failure, an ovarian disorder defined as the cessation
CC of ovarian function under the age of 40 years. It is characterized by
CC oligomenorrhea or amenorrhea, in the presence of elevated levels of
CC serum gonadotropins and low estradiol. POF18 is an autosomal recessive
CC form characterized by irregular menstrual cycles and cessation of
CC menstruation in the third decade of life. The uterus is small, ovaries
CC may be small or rudimentary, and do not show follicular activity.
CC {ECO:0000269|PubMed:33508233}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AK098187; BAC05253.1; -; mRNA.
DR EMBL; AL132778; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW80781.1; -; Genomic_DNA.
DR EMBL; BC125070; AAI25071.1; -; mRNA.
DR CCDS; CCDS9746.1; -.
DR RefSeq; NP_777638.2; NM_174978.2.
DR AlphaFoldDB; Q8N1H7; -.
DR SMR; Q8N1H7; -.
DR BioGRID; 130462; 6.
DR IntAct; Q8N1H7; 5.
DR STRING; 9606.ENSP00000324920; -.
DR iPTMnet; Q8N1H7; -.
DR PhosphoSitePlus; Q8N1H7; -.
DR BioMuta; C14orf39; -.
DR DMDM; 296452892; -.
DR MassIVE; Q8N1H7; -.
DR PaxDb; Q8N1H7; -.
DR PeptideAtlas; Q8N1H7; -.
DR PRIDE; Q8N1H7; -.
DR ProteomicsDB; 71602; -.
DR Antibodypedia; 66081; 13 antibodies from 10 providers.
DR DNASU; 317761; -.
DR Ensembl; ENST00000321731.8; ENSP00000324920.3; ENSG00000179008.9.
DR GeneID; 317761; -.
DR KEGG; hsa:317761; -.
DR MANE-Select; ENST00000321731.8; ENSP00000324920.3; NM_174978.3; NP_777638.3.
DR UCSC; uc001xez.5; human.
DR CTD; 317761; -.
DR DisGeNET; 317761; -.
DR GeneCards; C14orf39; -.
DR HGNC; HGNC:19849; C14orf39.
DR HPA; ENSG00000179008; Tissue enhanced (pituitary gland, salivary gland, testis).
DR MalaCards; C14orf39; -.
DR MIM; 617307; gene.
DR MIM; 619202; phenotype.
DR MIM; 619203; phenotype.
DR neXtProt; NX_Q8N1H7; -.
DR OpenTargets; ENSG00000179008; -.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR PharmGKB; PA134950036; -.
DR VEuPathDB; HostDB:ENSG00000179008; -.
DR eggNOG; ENOG502QQ3A; Eukaryota.
DR GeneTree; ENSGT00390000010439; -.
DR HOGENOM; CLU_466138_0_0_1; -.
DR InParanoid; Q8N1H7; -.
DR OMA; SSQNFMQ; -.
DR OrthoDB; 561779at2759; -.
DR PhylomeDB; Q8N1H7; -.
DR TreeFam; TF337593; -.
DR PathwayCommons; Q8N1H7; -.
DR SignaLink; Q8N1H7; -.
DR BioGRID-ORCS; 317761; 21 hits in 1036 CRISPR screens.
DR ChiTaRS; C14orf39; human.
DR GenomeRNAi; 317761; -.
DR Pharos; Q8N1H7; Tdark.
DR PRO; PR:Q8N1H7; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8N1H7; protein.
DR Bgee; ENSG00000179008; Expressed in adenohypophysis and 88 other tissues.
DR ExpressionAtlas; Q8N1H7; baseline and differential.
DR Genevisible; Q8N1H7; HS.
DR GO; GO:0000801; C:central element; ISS:UniProtKB.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IMP:UniProtKB.
DR GO; GO:0010705; P:meiotic DNA double-strand break processing involved in reciprocal meiotic recombination; ISS:UniProtKB.
DR GO; GO:0048477; P:oogenesis; ISS:UniProtKB.
DR GO; GO:0051090; P:regulation of DNA-binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR031380; SIX6OS1.
DR PANTHER; PTHR35449; PTHR35449; 1.
DR Pfam; PF15676; S6OS1; 1.
PE 1: Evidence at protein level;
KW Chromosome; Developmental protein; Differentiation; Disease variant;
KW DNA recombination; Meiosis; Phosphoprotein; Premature ovarian failure;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..587
FT /note="Protein SIX6OS1"
FT /id="PRO_0000089888"
FT REGION 356..378
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 568..587
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 439
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9CTN5"
FT VARIANT 125
FT /note="Y -> C (in dbSNP:rs1956551)"
FT /id="VAR_056983"
FT VARIANT 309
FT /note="S -> L (in dbSNP:rs1033734)"
FT /id="VAR_056984"
FT VARIANT 320..587
FT /note="Missing (in SPGF52; does not affect protein
FT expression; impairs polycomplex formation between SIX6OS1
FT and SYCE1)"
FT /evidence="ECO:0000269|PubMed:33508233"
FT /id="VAR_085225"
FT VARIANT 404
FT /note="V -> I (in dbSNP:rs11625921)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_059715"
FT CONFLICT 306
FT /note="A -> V (in Ref. 1; BAC05253)"
FT /evidence="ECO:0000305"
FT CONFLICT 524
FT /note="L -> F (in Ref. 1; BAC05253)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 587 AA; 68166 MW; A9EBB4EA5D689FC8 CRC64;
MNDSLFVSLD RLLLEFVFQY EQDISTKEEM IQRINKCCED IKENKVTICR IHETINATDE
EIDHYCKHSE EIKDNCRNWK PTCDVFRKHE DYMQDQFTVY QGTVEKDKEM YHDYICQYKE
VLKQYQLKYS ETPFSREYYE KKREHEEIQS RVLACTEQLK MNETIFMKFR VPAPFPSLTK
WTLNIVNLRC ETQDILKHAS NLTKSSSELK KEVDEMEIEI NYLNQQISRH NETKALSETL
EEKNKNTENR KELKERIFGK DEHVLTLNKT QSSQLFLPYE SQKLVRPIKM HSSEPRVADI
KEESSAKQSK LANIDFRQKE NDTQIFNDSA VDNHSKCSHI TTITSSQKFM QVRLLTPQKQ
SNSNQWSEKG DKDAEYGDKG TVRQVRESKC TSQAIYTEHF GKSVENDSDE VEERAENFPR
TSEIPIFLGT PKAVKAPESL EKIKFPKTPP FEINRNRNAV PEVQTEKESP GLSFLMSYTS
RSPGLNLFDS SVFDTEISSD QFNEHYSARN LNPLSSEQEI GNLLEKPEGE DGFTFSFPSD
TSTHTFGAGK DDFSFPFSFG QGQNSIPSSS LKGFSSSSQN TTQFTFF
