SCML1_HUMAN
ID SCML1_HUMAN Reviewed; 329 AA.
AC Q9UN30; B0FZN6; B2RA08; Q5H968; Q5H969;
DT 10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 28-JUL-2009, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Sex comb on midleg-like protein 1;
GN Name=SCML1;
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), AND TISSUE SPECIFICITY.
RX PubMed=9570953; DOI=10.1006/geno.1998.5224;
RA van de Vosse E., Walpole S.M., Nicolaou A., van der Bent P., Cahn A.,
RA Vaudin M., Ross M.T., Durham J., Pavitt R., Wilkinson J., Grafham D.,
RA Bergen A.A.B., van Ommen G.-J.B., Yates J.R.W., den Dunnen J.T., Trump D.;
RT "Characterization of SCML1, a new gene in Xp22, with homology to
RT developmental polycomb genes.";
RL Genomics 49:96-102(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
RX PubMed=18601738; DOI=10.1186/1471-2148-8-192;
RA Wu H.-H., Su B.;
RT "Adaptive evolution of SCML1 in primates, a gene involved in male
RT reproduction.";
RL BMC Evol. Biol. 8:192-192(2008).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-138, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by
CC forming multiprotein complexes, which are required to maintain the
CC transcriptionally repressive state of homeotic genes throughout
CC development. May be involved in spermatogenesis during sexual
CC maturation (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9UN30-2; P05107: ITGB2; NbExp=3; IntAct=EBI-12137487, EBI-300173;
CC Q9UN30-2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-12137487, EBI-739832;
CC Q9UN30-2; P51606: RENBP; NbExp=5; IntAct=EBI-12137487, EBI-752022;
CC Q9UN30-2; O00560: SDCBP; NbExp=3; IntAct=EBI-12137487, EBI-727004;
CC Q9UN30-2; Q5VUG0: SFMBT2; NbExp=3; IntAct=EBI-12137487, EBI-12025260;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q9UN30-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9UN30-1; Sequence=VSP_037800;
CC Name=2;
CC IsoId=Q9UN30-2; Sequence=VSP_037801;
CC -!- TISSUE SPECIFICITY: Ubiquitous. Expressed in fetal and adult tissues.
CC {ECO:0000269|PubMed:9570953}.
CC -!- SIMILARITY: Belongs to the SCM family. {ECO:0000305}.
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DR EMBL; AF160728; AAD47635.1; -; mRNA.
DR EMBL; EU370780; ABY68575.1; -; Genomic_DNA.
DR EMBL; AK313993; BAG36705.1; -; mRNA.
DR EMBL; Z93242; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471074; EAW98929.1; -; Genomic_DNA.
DR EMBL; BC105028; AAI05029.1; -; mRNA.
DR EMBL; BC026159; AAH26159.2; -; mRNA.
DR CCDS; CCDS14182.2; -. [Q9UN30-2]
DR CCDS; CCDS35210.1; -. [Q9UN30-3]
DR CCDS; CCDS35211.1; -. [Q9UN30-1]
DR RefSeq; NP_001032624.1; NM_001037535.2. [Q9UN30-1]
DR RefSeq; NP_001032625.1; NM_001037536.2. [Q9UN30-1]
DR RefSeq; NP_001032629.1; NM_001037540.2. [Q9UN30-3]
DR RefSeq; NP_006737.2; NM_006746.5. [Q9UN30-2]
DR RefSeq; XP_006724571.1; XM_006724508.3. [Q9UN30-3]
DR RefSeq; XP_016885212.1; XM_017029723.1. [Q9UN30-2]
DR AlphaFoldDB; Q9UN30; -.
DR SMR; Q9UN30; -.
DR BioGRID; 112227; 54.
DR IntAct; Q9UN30; 27.
DR MINT; Q9UN30; -.
DR STRING; 9606.ENSP00000369380; -.
DR iPTMnet; Q9UN30; -.
DR PhosphoSitePlus; Q9UN30; -.
DR BioMuta; SCML1; -.
DR DMDM; 254763330; -.
DR MassIVE; Q9UN30; -.
DR PaxDb; Q9UN30; -.
DR PeptideAtlas; Q9UN30; -.
DR PRIDE; Q9UN30; -.
DR ProteomicsDB; 85240; -. [Q9UN30-3]
DR ProteomicsDB; 85241; -. [Q9UN30-1]
DR ProteomicsDB; 85242; -. [Q9UN30-2]
DR Antibodypedia; 24087; 172 antibodies from 24 providers.
DR DNASU; 6322; -.
DR Ensembl; ENST00000380041.8; ENSP00000369380.3; ENSG00000047634.15. [Q9UN30-3]
DR Ensembl; ENST00000380043.7; ENSP00000369382.3; ENSG00000047634.15. [Q9UN30-2]
DR Ensembl; ENST00000380045.7; ENSP00000369384.3; ENSG00000047634.15. [Q9UN30-1]
DR Ensembl; ENST00000398080.5; ENSP00000381154.1; ENSG00000047634.15. [Q9UN30-1]
DR GeneID; 6322; -.
DR KEGG; hsa:6322; -.
DR MANE-Select; ENST00000380041.8; ENSP00000369380.3; NM_001037540.3; NP_001032629.1.
DR UCSC; uc004cyb.5; human. [Q9UN30-3]
DR CTD; 6322; -.
DR DisGeNET; 6322; -.
DR GeneCards; SCML1; -.
DR HGNC; HGNC:10580; SCML1.
DR HPA; ENSG00000047634; Low tissue specificity.
DR MIM; 300227; gene.
DR neXtProt; NX_Q9UN30; -.
DR OpenTargets; ENSG00000047634; -.
DR PharmGKB; PA34998; -.
DR VEuPathDB; HostDB:ENSG00000047634; -.
DR eggNOG; KOG3766; Eukaryota.
DR GeneTree; ENSGT00940000164589; -.
DR HOGENOM; CLU_1320505_0_0_1; -.
DR InParanoid; Q9UN30; -.
DR OMA; YETKPEF; -.
DR OrthoDB; 298184at2759; -.
DR PhylomeDB; Q9UN30; -.
DR PathwayCommons; Q9UN30; -.
DR SignaLink; Q9UN30; -.
DR BioGRID-ORCS; 6322; 13 hits in 703 CRISPR screens.
DR ChiTaRS; SCML1; human.
DR GenomeRNAi; 6322; -.
DR Pharos; Q9UN30; Tdark.
DR PRO; PR:Q9UN30; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9UN30; protein.
DR Bgee; ENSG00000047634; Expressed in secondary oocyte and 187 other tissues.
DR ExpressionAtlas; Q9UN30; baseline and differential.
DR Genevisible; Q9UN30; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR Gene3D; 1.10.150.50; -; 1.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR Pfam; PF00536; SAM_1; 1.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
DR PROSITE; PS50105; SAM_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Nucleus; Phosphoprotein; Reference proteome;
KW Repressor; Transcription; Transcription regulation.
FT CHAIN 1..329
FT /note="Sex comb on midleg-like protein 1"
FT /id="PRO_0000097627"
FT DOMAIN 258..325
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT REGION 138..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 138..156
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 138
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 238
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT VAR_SEQ 1..121
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9570953"
FT /id="VSP_037800"
FT VAR_SEQ 12..39
FT /note="IKTRIPTYDEDDNTILYAYETKPEFVNK -> Q (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_037801"
SQ SEQUENCE 329 AA; 37447 MW; 7B9D3679509DE56E CRC64;
MMSNSSSEID VIKTRIPTYD EDDNTILYAY ETKPEFVNKE PNIVSDASCN TEEQLKTVDD
VLIHCQVIYD ALQNLDKKID VIRRKVSKIQ RFHARSLWTN HKRYGYKKHS YRLVKKLKLQ
KMKKNEVYET FSYPESYSPT LPVSRRENNS PSNLPRPSFC MEEYQRAELE EDPILSRTPS
PVHPSDFSEH NCQPYYASDG ATYGSSSGLC LGNPRADSIH NTYSTDHASA APPSVTRSPV
ENDGYIEEGS ITKHPSTWSV EAVVLFLKQT DPLALCPLVD LFRSHEIDGK ALLLLTSDVL
LKHLGVKLGT AVKLCYYIDR LKQGKCFEN
