SYC2L_HUMAN
ID SYC2L_HUMAN Reviewed; 812 AA.
AC Q5T4T6; A6NDS5; Q08GK5; Q6ZRM2; Q96EJ2;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Synaptonemal complex protein 2-like {ECO:0000305};
DE Short=SCP-2-like;
DE AltName: Full=145 kDa nucleolar protein homolog {ECO:0000303|PubMed:17374641};
DE Short=hsNO145 {ECO:0000303|PubMed:17374641};
GN Name=SYCP2L {ECO:0000312|HGNC:HGNC:21537};
GN Synonyms=C6orf177 {ECO:0000312|HGNC:HGNC:21537},
GN NO145 {ECO:0000303|PubMed:17374641};
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 [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANT SER-672.
RX PubMed=17374641; DOI=10.1242/jcs.000166;
RA Voltmer-Irsch S., Kneissel S., Adenot P.G., Schmidt-Zachmann M.S.;
RT "Regulatory mechanisms governing the oocyte-specific synthesis of the
RT karyoskeletal protein NO145.";
RL J. Cell Sci. 120:1412-1422(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 270-812 (ISOFORM 1), AND VARIANT
RP SER-672.
RC TISSUE=Placenta;
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 SUBCELLULAR LOCATION, VARIANTS ILE-94; 626-LYS--SER-812 DEL;
RP 642-LYS--SER-812 DEL; ASP-647 AND SER-672, AND CHARACTERIZATION OF VARIANTS
RP ILE-94; 626-LYS--SER-812 DEL; 642-LYS--SER-812 DEL; ASP-647 AND SER-672.
RX PubMed=26362258; DOI=10.1093/hmg/ddv359;
RA Zhou J., Stein P., Leu N.A., Chmatal L., Xue J., Ma J., Huang X.,
RA Lampson M.A., Schultz R.M., Wang P.J.;
RT "Accelerated reproductive aging in females lacking a novel centromere
RT protein SYCP2L.";
RL Hum. Mol. Genet. 24:6505-6514(2015).
RN [6]
RP VARIANT TRP-291.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: Oocyte-specific protein that localizes to centromeres at the
CC dictyate stage and regulates the survival of primordial oocytes.
CC {ECO:0000250|UniProtKB:A0A0M3U1B0}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17374641}.
CC Chromosome, centromere {ECO:0000269|PubMed:26362258}. Note=Localized to
CC the synaptonemal complex lateral elements in late diplotene oocytes,
CC while it is absent on the synaptonemal complex of leptotene, zygotene,
CC pachytene and early diplotene oocytes (By similarity). Localizes to
CC centromeres in dictyate oocytes (By similarity). Detected in nuclear
CC granules and sizable aggregates (PubMed:17374641).
CC {ECO:0000250|UniProtKB:A0A0M3U1B0, ECO:0000269|PubMed:17374641}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5T4T6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T4T6-2; Sequence=VSP_033545;
CC -!- TISSUE SPECIFICITY: Expressed in the ovary (at protein level).
CC {ECO:0000269|PubMed:17374641}.
CC -!- SIMILARITY: Belongs to the SYCP2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAI16226.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAI22075.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AM293674; CAL25570.1; -; mRNA.
DR EMBL; AK128130; BAC87288.1; -; mRNA.
DR EMBL; AL357497; CAI16226.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL121955; CAI16226.1; JOINED; Genomic_DNA.
DR EMBL; AL121955; CAI22075.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL357497; CAI22075.1; JOINED; Genomic_DNA.
DR EMBL; BC012225; AAH12225.1; -; mRNA.
DR CCDS; CCDS43423.1; -. [Q5T4T6-1]
DR RefSeq; NP_001035364.2; NM_001040274.2. [Q5T4T6-1]
DR AlphaFoldDB; Q5T4T6; -.
DR SMR; Q5T4T6; -.
DR BioGRID; 128748; 6.
DR IntAct; Q5T4T6; 4.
DR STRING; 9606.ENSP00000283141; -.
DR iPTMnet; Q5T4T6; -.
DR PhosphoSitePlus; Q5T4T6; -.
DR BioMuta; SYCP2L; -.
DR DMDM; 189082117; -.
DR MassIVE; Q5T4T6; -.
DR PaxDb; Q5T4T6; -.
DR PeptideAtlas; Q5T4T6; -.
DR PRIDE; Q5T4T6; -.
DR ProteomicsDB; 64487; -. [Q5T4T6-1]
DR ProteomicsDB; 64488; -. [Q5T4T6-2]
DR TopDownProteomics; Q5T4T6-2; -. [Q5T4T6-2]
DR Antibodypedia; 48559; 20 antibodies from 9 providers.
DR DNASU; 221711; -.
DR Ensembl; ENST00000283141.11; ENSP00000283141.6; ENSG00000153157.13. [Q5T4T6-1]
DR Ensembl; ENST00000341041.8; ENSP00000340320.4; ENSG00000153157.13. [Q5T4T6-2]
DR GeneID; 221711; -.
DR KEGG; hsa:221711; -.
DR MANE-Select; ENST00000283141.11; ENSP00000283141.6; NM_001040274.3; NP_001035364.2.
DR UCSC; uc003mzo.4; human. [Q5T4T6-1]
DR CTD; 221711; -.
DR DisGeNET; 221711; -.
DR GeneCards; SYCP2L; -.
DR HGNC; HGNC:21537; SYCP2L.
DR HPA; ENSG00000153157; Tissue enriched (parathyroid).
DR neXtProt; NX_Q5T4T6; -.
DR OpenTargets; ENSG00000153157; -.
DR PharmGKB; PA162405118; -.
DR VEuPathDB; HostDB:ENSG00000153157; -.
DR eggNOG; ENOG502QSX7; Eukaryota.
DR GeneTree; ENSGT00530000063859; -.
DR HOGENOM; CLU_964850_0_0_1; -.
DR InParanoid; Q5T4T6; -.
DR OMA; FWGKQSD; -.
DR PhylomeDB; Q5T4T6; -.
DR TreeFam; TF332368; -.
DR PathwayCommons; Q5T4T6; -.
DR SignaLink; Q5T4T6; -.
DR BioGRID-ORCS; 221711; 15 hits in 1083 CRISPR screens.
DR ChiTaRS; SYCP2L; human.
DR GenomeRNAi; 221711; -.
DR Pharos; Q5T4T6; Tdark.
DR PRO; PR:Q5T4T6; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5T4T6; protein.
DR Bgee; ENSG00000153157; Expressed in secondary oocyte and 95 other tissues.
DR ExpressionAtlas; Q5T4T6; baseline and differential.
DR Genevisible; Q5T4T6; HS.
DR GO; GO:0000779; C:condensed chromosome, centromeric region; IDA:UniProtKB.
DR GO; GO:0001674; C:female germ cell nucleus; IEA:Ensembl.
DR GO; GO:0000800; C:lateral element; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0140013; P:meiotic nuclear division; IBA:GO_Central.
DR GO; GO:0060548; P:negative regulation of cell death; IEA:Ensembl.
DR InterPro; IPR024835; SYCP2-like.
DR InterPro; IPR041322; SYCP2_ARLD.
DR InterPro; IPR040560; SYCP2_SLD.
DR PANTHER; PTHR15607; PTHR15607; 1.
DR Pfam; PF18581; SYCP2_ARLD; 1.
DR Pfam; PF18584; SYCP2_SLD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Centromere; Chromosome; Nucleus; Reference proteome.
FT CHAIN 1..812
FT /note="Synaptonemal complex protein 2-like"
FT /id="PRO_0000333809"
FT REGION 415..445
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 466..673
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 417..442
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 507..527
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 570..614
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 615..631
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 639..656
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 292..812
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033545"
FT VARIANT 94
FT /note="V -> I (does not affect localization to centromeres;
FT dbSNP:rs6456746)"
FT /evidence="ECO:0000269|PubMed:26362258"
FT /id="VAR_043169"
FT VARIANT 291
FT /note="R -> W (in dbSNP:rs905595849)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069417"
FT VARIANT 626..812
FT /note="Missing (abolishes localization to centromeres)"
FT /evidence="ECO:0000269|PubMed:26362258"
FT /id="VAR_079007"
FT VARIANT 642..812
FT /note="Missing (abolishes localization to centromeres)"
FT /evidence="ECO:0000269|PubMed:26362258"
FT /id="VAR_079008"
FT VARIANT 647
FT /note="N -> D (does not affect localization to centromeres;
FT dbSNP:rs3798751)"
FT /evidence="ECO:0000269|PubMed:26362258"
FT /id="VAR_043170"
FT VARIANT 672
FT /note="P -> S (does not affect localization to centromeres;
FT dbSNP:rs1225746)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17374641, ECO:0000269|PubMed:26362258"
FT /id="VAR_043171"
FT CONFLICT 214
FT /note="M -> V (in Ref. 1; CAL25570)"
FT /evidence="ECO:0000305"
FT CONFLICT 276
FT /note="R -> I (in Ref. 4; AAH12225)"
FT /evidence="ECO:0000305"
FT CONFLICT 314
FT /note="K -> E (in Ref. 1; CAL25570)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 812 AA; 93599 MW; 9B420220EAD7961E CRC64;
MQAKNKDALQ PIKEDRTGKA QDDAFWLQSL ITDAFHDKGF QKIKEYFQQK ESHFPQKYNR
LLLYRLDRSI NKELDKNEFQ SVSLLLKCIQ RFLVDGLKED EPLLIRQGLI PKLVSWFERT
TGILTSEGLA SDTSLICVIE DFFDTALIIS RSSSEGKIQM LDSFLLSLGF LVTEKTVNHL
LQQEGLKTFN CILHAVPREE RKKFPLSEGM CHLMKDLART LLTVGDYDQQ VAISEALCRL
TIKKSRDELV HKWFDDEVIA EAFKEIKDRE FETDSRRFLN HLNNRLGDQR RVYSFPCIAA
FADEHEMRKP ADEKLEKFWI DFNLGSQSVT FYIDNAENTL WDSVTLPKEA VMNFSITETE
KIKIFIIYLK KPMIISYKEV MKIEIHFDLQ FNISQVSIQA LGEDKQMLPD QTKISSELFS
KSDKEDRESP SGLERETEQA EESTNMVEFM SAEDDRCLIT LHLNDQSEPP VIGEPASDSH
LQPVPPFGVP DFPQQPKSHY RKHLFSESNQ DSSTSELSWT SNQKKKSLKS YSSRKKTRTR
SNLRILPVFP PSSGSGHEKD QAKLLSPSEK EIPEQNNTTS PKTSEQKFQD SFAFLTAEDS
AQKTELQDPH SLSELSSLKH SEDEEKPKIV NQESLTESTS LKHKLRNLED KDIPEGSFAK
SQQSRLEEEV APGSPFSITE ERELPEGIST SSLEVVPENL NGSAILPTFE NFTKKRKRKY
ELRYRKRPFN SENAKKAPDC LIKLLNQMQL FRLNKLERFQ NLVLQELSSL KQDIQALEHL
EKEVLEFWGK QSADLQSFCD LQVLRFNSTQ TS
