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Sex comb on midleg-like protein 4

 SCML4_HUMAN             Reviewed;         414 AA.
Q8N228; B0QZ10; B0QZ11; B7ZBX3; Q5JXD0; Q5T0T6; Q8IYY6;
20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
20-MAY-2008, sequence version 2.
18-JUL-2018, entry version 122.
RecName: Full=Sex comb on midleg-like protein 4;
Name=SCML4;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
GLN-126.
TISSUE=Thymus;
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).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Testis;
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).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
-!- 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 (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q8N228-1; Sequence=Displayed;
Name=2;
IsoId=Q8N228-2; Sequence=VSP_033943;
Name=3;
IsoId=Q8N228-3; Sequence=VSP_033944, VSP_033945, VSP_033946;
-!- SIMILARITY: Belongs to the SCM family. {ECO:0000305}.
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EMBL; AK093571; BAC04198.1; -; mRNA.
EMBL; AL512592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL096816; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471051; EAW48394.1; -; Genomic_DNA.
EMBL; CH471051; EAW48395.1; -; Genomic_DNA.
EMBL; BC033286; AAH33286.1; -; mRNA.
CCDS; CCDS5060.2; -. [Q8N228-1]
CCDS; CCDS69163.1; -. [Q8N228-2]
RefSeq; NP_001273337.1; NM_001286408.1. [Q8N228-2]
RefSeq; NP_932347.2; NM_198081.4. [Q8N228-1]
RefSeq; XP_011534008.1; XM_011535706.1. [Q8N228-2]
RefSeq; XP_016866167.1; XM_017010678.1. [Q8N228-1]
RefSeq; XP_016866168.1; XM_017010679.1. [Q8N228-1]
RefSeq; XP_016866169.1; XM_017010680.1. [Q8N228-1]
RefSeq; XP_016866170.1; XM_017010681.1. [Q8N228-1]
RefSeq; XP_016866172.1; XM_017010683.1. [Q8N228-2]
UniGene; Hs.486109; -.
UniGene; Hs.587364; -.
ProteinModelPortal; Q8N228; -.
SMR; Q8N228; -.
BioGrid; 129164; 3.
IntAct; Q8N228; 2.
STRING; 9606.ENSP00000358016; -.
iPTMnet; Q8N228; -.
PhosphoSitePlus; Q8N228; -.
SwissPalm; Q8N228; -.
BioMuta; SCML4; -.
DMDM; 189046183; -.
PaxDb; Q8N228; -.
PeptideAtlas; Q8N228; -.
PRIDE; Q8N228; -.
ProteomicsDB; 71650; -.
ProteomicsDB; 71651; -. [Q8N228-2]
ProteomicsDB; 71652; -. [Q8N228-3]
DNASU; 256380; -.
Ensembl; ENST00000369020; ENSP00000358016; ENSG00000146285. [Q8N228-1]
Ensembl; ENST00000369021; ENSP00000358017; ENSG00000146285. [Q8N228-3]
Ensembl; ENST00000369022; ENSP00000358018; ENSG00000146285. [Q8N228-2]
GeneID; 256380; -.
KEGG; hsa:256380; -.
UCSC; uc003prz.6; human. [Q8N228-1]
CTD; 256380; -.
EuPathDB; HostDB:ENSG00000146285.13; -.
GeneCards; SCML4; -.
HGNC; HGNC:21397; SCML4.
HPA; HPA063326; -.
HPA; HPA065958; -.
neXtProt; NX_Q8N228; -.
OpenTargets; ENSG00000146285; -.
PharmGKB; PA134946179; -.
eggNOG; KOG3766; Eukaryota.
eggNOG; ENOG410Y4AQ; LUCA.
GeneTree; ENSGT00760000119024; -.
HOVERGEN; HBG056406; -.
InParanoid; Q8N228; -.
KO; K11466; -.
OMA; QALTVCI; -.
OrthoDB; EOG091G05BW; -.
PhylomeDB; Q8N228; -.
TreeFam; TF106488; -.
ChiTaRS; SCML4; human.
GenomeRNAi; 256380; -.
PRO; PR:Q8N228; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000146285; -.
CleanEx; HS_SCML4; -.
ExpressionAtlas; Q8N228; baseline and differential.
Genevisible; Q8N228; HS.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
Gene3D; 1.20.1380.20; -; 1.
InterPro; IPR001660; SAM.
InterPro; IPR013761; SAM/pointed_sf.
InterPro; IPR033763; SCML2_RBR.
InterPro; IPR021987; SLED.
InterPro; IPR038348; SLED_sf.
Pfam; PF17208; RBR; 1.
Pfam; PF00536; SAM_1; 1.
Pfam; PF12140; SLED; 1.
SMART; SM00454; SAM; 1.
SUPFAM; SSF47769; SSF47769; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Nucleus; Phosphoprotein;
Polymorphism; Reference proteome; Repressor; Transcription;
Transcription regulation.
CHAIN 1 414 Sex comb on midleg-like protein 4.
/FTId=PRO_0000337171.
DOMAIN 288 354 SAM.
MOD_RES 55 55 Phosphoserine.
{ECO:0000250|UniProtKB:Q80VG1}.
MOD_RES 65 65 Phosphoserine.
{ECO:0000250|UniProtKB:Q80VG1}.
VAR_SEQ 1 58 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_033943.
VAR_SEQ 1 58 MQSQRIPGRKRGRPSLHSTPMKMAVHNLYSASAGSLPAVKI
PKKRGRKPGYKIKSRVL -> MPCQRTAWIGCDRQRTPPFH
WREIKSRVL (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_033944.
VAR_SEQ 325 334 ASSPSQDAQD -> GNVMHASASH (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_033945.
VAR_SEQ 335 414 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_033946.
VARIANT 126 126 R -> Q (in dbSNP:rs6934505).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_043669.
SEQUENCE 414 AA; 45023 MW; 666A3DEAAF2A82D0 CRC64;
MQSQRIPGRK RGRPSLHSTP MKMAVHNLYS ASAGSLPAVK IPKKRGRKPG YKIKSRVLMT
PLALSPPRST PEPDLSSIPQ DAATVPSLAA PQALTVCLYI NKQANAGPYL ERKKVQQLPE
HFGPERPSAV LQQAVQACID CAHQQKLVFS LVKQGYGGEM VSVSASFDGK QHLRSLPVVN
SIGYVLRFLA KLCRSLLCDD LFSHQPFPRG CSASEKVQEK EEGRMESVKT VTTEEYLVNP
VGMNRYSVDT SASTFNHRGS LHPSSSLYCK RQNSGDSHLG GGPAATAGGP RTSPMSSGGP
SAPGLRPPAS SPKRNTTSLE GNRCASSPSQ DAQDARRPRS RNPSAWTVED VVWFVKDADP
QALGPHVELF RKHEIDGNAL LLLKSDMVMK YLGLKLGPAL KLCYHIDKLK QAKF


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