SCML4_HUMAN
ID SCML4_HUMAN Reviewed; 414 AA.
AC Q8N228; B0QZ10; B0QZ11; B7ZBX3; Q5JXD0; Q5T0T6; Q8IYY6;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Sex comb on midleg-like protein 4;
GN Name=SCML4;
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] (ISOFORM 2), AND VARIANT GLN-126.
RC TISSUE=Thymus;
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=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 [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
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 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q8N228-3; O95833: CLIC3; NbExp=3; IntAct=EBI-17182094, EBI-10192241;
CC Q8N228-3; Q96MK2: RIPOR3; NbExp=3; IntAct=EBI-17182094, EBI-12010512;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N228-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N228-2; Sequence=VSP_033943;
CC Name=3;
CC IsoId=Q8N228-3; Sequence=VSP_033944, VSP_033945, VSP_033946;
CC -!- SIMILARITY: Belongs to the SCM family. {ECO:0000305}.
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DR EMBL; AK093571; BAC04198.1; -; mRNA.
DR EMBL; AL512592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL096816; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48394.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48395.1; -; Genomic_DNA.
DR EMBL; BC033286; AAH33286.1; -; mRNA.
DR CCDS; CCDS5060.2; -. [Q8N228-1]
DR CCDS; CCDS69163.1; -. [Q8N228-2]
DR RefSeq; NP_001273337.1; NM_001286408.1. [Q8N228-2]
DR RefSeq; NP_932347.2; NM_198081.4. [Q8N228-1]
DR RefSeq; XP_011534008.1; XM_011535706.1. [Q8N228-2]
DR RefSeq; XP_016866167.1; XM_017010678.1. [Q8N228-1]
DR RefSeq; XP_016866168.1; XM_017010679.1. [Q8N228-1]
DR RefSeq; XP_016866169.1; XM_017010680.1. [Q8N228-1]
DR RefSeq; XP_016866170.1; XM_017010681.1. [Q8N228-1]
DR RefSeq; XP_016866172.1; XM_017010683.1. [Q8N228-2]
DR AlphaFoldDB; Q8N228; -.
DR SMR; Q8N228; -.
DR BioGRID; 129164; 49.
DR IntAct; Q8N228; 5.
DR STRING; 9606.ENSP00000358016; -.
DR iPTMnet; Q8N228; -.
DR PhosphoSitePlus; Q8N228; -.
DR SwissPalm; Q8N228; -.
DR BioMuta; SCML4; -.
DR DMDM; 189046183; -.
DR jPOST; Q8N228; -.
DR MassIVE; Q8N228; -.
DR PaxDb; Q8N228; -.
DR PeptideAtlas; Q8N228; -.
DR PRIDE; Q8N228; -.
DR ProteomicsDB; 71650; -. [Q8N228-1]
DR ProteomicsDB; 71651; -. [Q8N228-2]
DR ProteomicsDB; 71652; -. [Q8N228-3]
DR Antibodypedia; 32183; 63 antibodies from 19 providers.
DR DNASU; 256380; -.
DR Ensembl; ENST00000369020.8; ENSP00000358016.3; ENSG00000146285.14. [Q8N228-1]
DR Ensembl; ENST00000369021.7; ENSP00000358017.3; ENSG00000146285.14. [Q8N228-3]
DR Ensembl; ENST00000369022.6; ENSP00000358018.2; ENSG00000146285.14. [Q8N228-2]
DR GeneID; 256380; -.
DR KEGG; hsa:256380; -.
DR MANE-Select; ENST00000369020.8; ENSP00000358016.3; NM_198081.5; NP_932347.2.
DR UCSC; uc003prz.6; human. [Q8N228-1]
DR CTD; 256380; -.
DR DisGeNET; 256380; -.
DR GeneCards; SCML4; -.
DR HGNC; HGNC:21397; SCML4.
DR HPA; ENSG00000146285; Tissue enhanced (intestine, lymphoid tissue).
DR neXtProt; NX_Q8N228; -.
DR OpenTargets; ENSG00000146285; -.
DR PharmGKB; PA134946179; -.
DR VEuPathDB; HostDB:ENSG00000146285; -.
DR eggNOG; KOG3766; Eukaryota.
DR GeneTree; ENSGT00940000157463; -.
DR HOGENOM; CLU_045829_0_0_1; -.
DR InParanoid; Q8N228; -.
DR OMA; TEECLVN; -.
DR OrthoDB; 229086at2759; -.
DR PhylomeDB; Q8N228; -.
DR TreeFam; TF106488; -.
DR PathwayCommons; Q8N228; -.
DR SignaLink; Q8N228; -.
DR BioGRID-ORCS; 256380; 17 hits in 1074 CRISPR screens.
DR ChiTaRS; SCML4; human.
DR GenomeRNAi; 256380; -.
DR Pharos; Q8N228; Tdark.
DR PRO; PR:Q8N228; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N228; protein.
DR Bgee; ENSG00000146285; Expressed in granulocyte and 114 other tissues.
DR ExpressionAtlas; Q8N228; baseline and differential.
DR Genevisible; Q8N228; 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 Gene3D; 3.90.1150.190; -; 1.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR InterPro; IPR033763; SCML2_RBR.
DR InterPro; IPR021987; SLED.
DR InterPro; IPR038348; SLED_sf.
DR Pfam; PF17208; RBR; 1.
DR Pfam; PF00536; SAM_1; 1.
DR Pfam; PF12140; SLED; 1.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Nucleus; Phosphoprotein; Reference proteome;
KW Repressor; Transcription; Transcription regulation.
FT CHAIN 1..414
FT /note="Sex comb on midleg-like protein 4"
FT /id="PRO_0000337171"
FT DOMAIN 288..354
FT /note="SAM"
FT REGION 257..343
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 257..273
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 310..333
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 55
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80VG1"
FT MOD_RES 65
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80VG1"
FT VAR_SEQ 1..58
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033943"
FT VAR_SEQ 1..58
FT /note="MQSQRIPGRKRGRPSLHSTPMKMAVHNLYSASAGSLPAVKIPKKRGRKPGYK
FT IKSRVL -> MPCQRTAWIGCDRQRTPPFHWREIKSRVL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033944"
FT VAR_SEQ 325..334
FT /note="ASSPSQDAQD -> GNVMHASASH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033945"
FT VAR_SEQ 335..414
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033946"
FT VARIANT 126
FT /note="R -> Q (in dbSNP:rs6934505)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_043669"
SQ 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