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Sex comb on midleg-like protein 1

 SCML1_HUMAN             Reviewed;         329 AA.
Q9UN30; B0FZN6; B2RA08; Q5H968; Q5H969;
10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
28-JUL-2009, sequence version 2.
25-OCT-2017, entry version 136.
RecName: Full=Sex comb on midleg-like protein 1;
Name=SCML1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
PubMed=9570953; DOI=10.1006/geno.1998.5224;
van de Vosse E., Walpole S.M., Nicolaou A., van der Bent P., Cahn A.,
Vaudin M., Ross M.T., Durham J., Pavitt R., Wilkinson J., Grafham D.,
Bergen A.A.B., van Ommen G.-J.B., Yates J.R.W., den Dunnen J.T.,
Trump D.;
"Characterization of SCML1, a new gene in Xp22, with homology to
developmental polycomb genes.";
Genomics 49:96-102(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
PubMed=18601738; DOI=10.1186/1471-2148-8-192;
Wu H.-H., Su B.;
"Adaptive evolution of SCML1 in primates, a gene involved in male
reproduction.";
BMC Evol. Biol. 8:192-192(2008).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Liver;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of
the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-138, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
-!- FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act
by forming multiprotein complexes, which are required to maintain
the transcriptionally repressive state of homeotic genes
throughout development. May be involved in spermatogenesis during
sexual maturation (By similarity). {ECO:0000250}.
-!- INTERACTION:
P51606:RENBP; NbExp=4; IntAct=EBI-12137487, EBI-752022;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=3;
IsoId=Q9UN30-3; Sequence=Displayed;
Name=1;
IsoId=Q9UN30-1; Sequence=VSP_037800;
Name=2;
IsoId=Q9UN30-2; Sequence=VSP_037801;
-!- TISSUE SPECIFICITY: Ubiquitous. Expressed in fetal and adult
tissues. {ECO:0000269|PubMed:9570953}.
-!- SIMILARITY: Belongs to the SCM family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF160728; AAD47635.1; -; mRNA.
EMBL; EU370780; ABY68575.1; -; Genomic_DNA.
EMBL; AK313993; BAG36705.1; -; mRNA.
EMBL; Z93242; CAI42727.1; -; Genomic_DNA.
EMBL; Z93242; CAI42728.1; -; Genomic_DNA.
EMBL; CH471074; EAW98929.1; -; Genomic_DNA.
EMBL; BC105028; AAI05029.1; -; mRNA.
EMBL; BC026159; AAH26159.2; -; mRNA.
CCDS; CCDS14182.2; -. [Q9UN30-2]
CCDS; CCDS35210.1; -. [Q9UN30-3]
CCDS; CCDS35211.1; -. [Q9UN30-1]
RefSeq; NP_001032624.1; NM_001037535.2. [Q9UN30-1]
RefSeq; NP_001032625.1; NM_001037536.2. [Q9UN30-1]
RefSeq; NP_001032629.1; NM_001037540.2. [Q9UN30-3]
RefSeq; NP_006737.2; NM_006746.5. [Q9UN30-2]
RefSeq; XP_006724571.1; XM_006724508.3. [Q9UN30-3]
RefSeq; XP_016885212.1; XM_017029723.1. [Q9UN30-2]
UniGene; Hs.109655; -.
UniGene; Hs.658510; -.
ProteinModelPortal; Q9UN30; -.
SMR; Q9UN30; -.
BioGrid; 112227; 21.
IntAct; Q9UN30; 16.
iPTMnet; Q9UN30; -.
PhosphoSitePlus; Q9UN30; -.
BioMuta; SCML1; -.
DMDM; 254763330; -.
PaxDb; Q9UN30; -.
PeptideAtlas; Q9UN30; -.
PRIDE; Q9UN30; -.
DNASU; 6322; -.
Ensembl; ENST00000380041; ENSP00000369380; ENSG00000047634. [Q9UN30-3]
Ensembl; ENST00000380043; ENSP00000369382; ENSG00000047634. [Q9UN30-2]
Ensembl; ENST00000380045; ENSP00000369384; ENSG00000047634. [Q9UN30-1]
Ensembl; ENST00000398080; ENSP00000381154; ENSG00000047634. [Q9UN30-1]
GeneID; 6322; -.
KEGG; hsa:6322; -.
UCSC; uc004cyb.5; human. [Q9UN30-3]
CTD; 6322; -.
EuPathDB; HostDB:ENSG00000047634.14; -.
GeneCards; SCML1; -.
HGNC; HGNC:10580; SCML1.
HPA; HPA035270; -.
HPA; HPA035271; -.
HPA; HPA061397; -.
MIM; 300227; gene.
neXtProt; NX_Q9UN30; -.
OpenTargets; ENSG00000047634; -.
PharmGKB; PA34998; -.
eggNOG; KOG3766; Eukaryota.
eggNOG; ENOG410Y4AQ; LUCA.
GeneTree; ENSGT00840000130035; -.
HOGENOM; HOG000036073; -.
HOVERGEN; HBG094812; -.
InParanoid; Q9UN30; -.
KO; K11464; -.
OMA; YSPTLPV; -.
OrthoDB; EOG091G0FBX; -.
PhylomeDB; Q9UN30; -.
GenomeRNAi; 6322; -.
PRO; PR:Q9UN30; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000047634; -.
CleanEx; HS_SCML1; -.
ExpressionAtlas; Q9UN30; baseline and differential.
Genevisible; Q9UN30; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0003677; F:DNA binding; TAS:ProtInc.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
InterPro; IPR001660; SAM.
InterPro; IPR013761; SAM/pointed.
Pfam; PF00536; SAM_1; 1.
SMART; SM00454; SAM; 1.
SUPFAM; SSF47769; SSF47769; 1.
PROSITE; PS50105; SAM_DOMAIN; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Nucleus; Phosphoprotein;
Reference proteome; Repressor; Transcription;
Transcription regulation.
CHAIN 1 329 Sex comb on midleg-like protein 1.
/FTId=PRO_0000097627.
DOMAIN 258 325 SAM. {ECO:0000255|PROSITE-
ProRule:PRU00184}.
MOD_RES 138 138 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 238 238 Phosphoserine.
{ECO:0000244|PubMed:18691976}.
VAR_SEQ 1 121 Missing (in isoform 1).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9570953}.
/FTId=VSP_037800.
VAR_SEQ 12 39 IKTRIPTYDEDDNTILYAYETKPEFVNK -> Q (in
isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_037801.
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


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