SAM11_HUMAN
ID SAM11_HUMAN Reviewed; 681 AA.
AC Q96NU1; A2AA76; I7FV78; I7FV81; I7G0Z6; Q5SV96; Q5SV99; Q5SVA0; Q8N195;
AC Q8TB59;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 3.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Sterile alpha motif domain-containing protein 11;
DE Short=SAM domain-containing protein 11;
GN Name=SAMD11;
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] (ISOFORMS 4; 5 AND 6), ALTERNATIVE SPLICING, AND
RP ALTERNATIVE PROMOTER USAGE.
RX PubMed=23978614; DOI=10.1016/j.gene.2013.08.033;
RA Jin G., Long C., Liu W., Tang Y., Zhu Y., Zhou X., Ai Y., Zhang Q.,
RA Shen H.;
RT "Identification and characterization of novel alternative splice variants
RT of human SAMD11.";
RL Gene 530:215-221(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Eye;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-485 AND SER-640, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-72, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: May play a role in photoreceptor development. {ECO:0000250}.
CC -!- SUBUNIT: Homodimer. {ECO:0000250}.
CC -!- INTERACTION:
CC Q96NU1; Q9NP55: BPIFA1; NbExp=3; IntAct=EBI-14067109, EBI-953896;
CC Q96NU1; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-14067109, EBI-10175300;
CC Q96NU1; Q8WUE5: CT55; NbExp=3; IntAct=EBI-14067109, EBI-6873363;
CC Q96NU1; Q16610: ECM1; NbExp=3; IntAct=EBI-14067109, EBI-947964;
CC Q96NU1; P0C870: JMJD7; NbExp=3; IntAct=EBI-14067109, EBI-9090173;
CC Q96NU1; Q15323: KRT31; NbExp=3; IntAct=EBI-14067109, EBI-948001;
CC Q96NU1; O76011: KRT34; NbExp=3; IntAct=EBI-14067109, EBI-1047093;
CC Q96NU1; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-14067109, EBI-11987425;
CC Q96NU1; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-14067109, EBI-10271199;
CC Q96NU1; Q9UPG8: PLAGL2; NbExp=3; IntAct=EBI-14067109, EBI-2876622;
CC Q96NU1; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-14067109, EBI-742388;
CC Q96NU1; P86480: PRR20D; NbExp=3; IntAct=EBI-14067109, EBI-12754095;
CC Q96NU1; Q04864-2: REL; NbExp=3; IntAct=EBI-14067109, EBI-10829018;
CC Q96NU1; A6ZKI3: RTL8C; NbExp=3; IntAct=EBI-14067109, EBI-10174072;
CC Q96NU1; Q13077: TRAF1; NbExp=3; IntAct=EBI-14067109, EBI-359224;
CC Q96NU1; Q12933: TRAF2; NbExp=3; IntAct=EBI-14067109, EBI-355744;
CC Q96NU1; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-14067109, EBI-492476;
CC Q96NU1; Q86WV8: TSC1; NbExp=3; IntAct=EBI-14067109, EBI-12806590;
CC Q96NU1; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-14067109, EBI-12030590;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;
CC Comment=Many additional isoforms seem to exist.;
CC Name=3; Synonyms=FL-SAMD11;
CC IsoId=Q96NU1-3; Sequence=Displayed;
CC Name=1; Synonyms=SAMD11-ASV;
CC IsoId=Q96NU1-1; Sequence=VSP_053647, VSP_053649;
CC Name=2; Synonyms=AP-SAMD11-ASV;
CC IsoId=Q96NU1-2; Sequence=VSP_053647, VSP_053650;
CC Name=4; Synonyms=SAMD11-ASV5;
CC IsoId=Q96NU1-4; Sequence=VSP_053648, VSP_053649;
CC Name=5; Synonyms=SAMD11-ASV1;
CC IsoId=Q96NU1-5; Sequence=VSP_053648, VSP_053649, VSP_053650;
CC Name=6; Synonyms=SAMD11-ASV6;
CC IsoId=Q96NU1-6; Sequence=VSP_053649;
CC -!- MISCELLANEOUS: [Isoform 1]: Produced by alternative promoter usage.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 2]: Produced by alternative promoter usage and
CC alternative splicing. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: Produced by alternative splicing.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 5]: Produced by alternative splicing.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 6]: Produced by alternative splicing.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70781.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; JX093066; AFP36417.1; -; mRNA.
DR EMBL; JX093070; AFP36421.1; -; mRNA.
DR EMBL; JX093071; AFP36422.1; -; mRNA.
DR EMBL; AK054643; BAB70781.1; ALT_INIT; mRNA.
DR EMBL; AL645608; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC024295; AAH24295.1; -; mRNA.
DR EMBL; BC033213; AAH33213.1; -; mRNA.
DR CCDS; CCDS2.2; -. [Q96NU1-3]
DR RefSeq; NP_689699.2; NM_152486.2. [Q96NU1-3]
DR AlphaFoldDB; Q96NU1; -.
DR SMR; Q96NU1; -.
DR BioGRID; 127146; 37.
DR IntAct; Q96NU1; 30.
DR MINT; Q96NU1; -.
DR STRING; 9606.ENSP00000342313; -.
DR iPTMnet; Q96NU1; -.
DR PhosphoSitePlus; Q96NU1; -.
DR SwissPalm; Q96NU1; -.
DR BioMuta; SAMD11; -.
DR DMDM; 166215037; -.
DR jPOST; Q96NU1; -.
DR MassIVE; Q96NU1; -.
DR MaxQB; Q96NU1; -.
DR PaxDb; Q96NU1; -.
DR PeptideAtlas; Q96NU1; -.
DR PRIDE; Q96NU1; -.
DR ProteomicsDB; 77562; -. [Q96NU1-3]
DR ProteomicsDB; 77563; -. [Q96NU1-1]
DR ProteomicsDB; 77564; -. [Q96NU1-2]
DR Antibodypedia; 56168; 22 antibodies from 9 providers.
DR DNASU; 148398; -.
DR Ensembl; ENST00000342066.8; ENSP00000342313.3; ENSG00000187634.13. [Q96NU1-3]
DR GeneID; 148398; -.
DR KEGG; hsa:148398; -.
DR UCSC; uc001abw.2; human. [Q96NU1-3]
DR CTD; 148398; -.
DR DisGeNET; 148398; -.
DR GeneCards; SAMD11; -.
DR HGNC; HGNC:28706; SAMD11.
DR HPA; ENSG00000187634; Low tissue specificity.
DR neXtProt; NX_Q96NU1; -.
DR OpenTargets; ENSG00000187634; -.
DR PharmGKB; PA134968665; -.
DR VEuPathDB; HostDB:ENSG00000187634; -.
DR eggNOG; KOG4333; Eukaryota.
DR GeneTree; ENSGT00940000160830; -.
DR InParanoid; Q96NU1; -.
DR OMA; ISPYFHT; -.
DR OrthoDB; 622508at2759; -.
DR PhylomeDB; Q96NU1; -.
DR TreeFam; TF331299; -.
DR PathwayCommons; Q96NU1; -.
DR SignaLink; Q96NU1; -.
DR BioGRID-ORCS; 148398; 10 hits in 1073 CRISPR screens.
DR ChiTaRS; SAMD11; human.
DR GenomeRNAi; 148398; -.
DR Pharos; Q96NU1; Tdark.
DR PRO; PR:Q96NU1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96NU1; protein.
DR Bgee; ENSG00000187634; Expressed in left uterine tube and 108 other tissues.
DR ExpressionAtlas; Q96NU1; baseline and differential.
DR Genevisible; Q96NU1; 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; PF07647; SAM_2; 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 promoter usage; Alternative splicing; Isopeptide bond; Nucleus;
KW Phosphoprotein; Reference proteome; Ubl conjugation.
FT CHAIN 1..681
FT /note="Sterile alpha motif domain-containing protein 11"
FT /id="PRO_0000279500"
FT DOMAIN 543..608
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT REGION 41..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 212..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 251..307
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 407..498
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 625..681
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 485
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 640
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CROSSLNK 72
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 1..185
FT /note="Missing (in isoform 1 and isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_053647"
FT VAR_SEQ 173
FT /note="Q -> QA (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:23978614"
FT /id="VSP_053648"
FT VAR_SEQ 220..235
FT /note="Missing (in isoform 1, isoform 4, isoform 5 and
FT isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:23978614"
FT /id="VSP_053649"
FT VAR_SEQ 601
FT /note="V -> VRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQV (in isoform
FT 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:23978614"
FT /id="VSP_053650"
FT CONFLICT 129
FT /note="C -> L (in Ref. 4; AAH24295)"
FT /evidence="ECO:0000305"
FT CONFLICT 162
FT /note="F -> L (in Ref. 1; AFP36417)"
FT /evidence="ECO:0000305"
FT CONFLICT 343
FT /note="W -> R (in Ref. 1; AFP36417/AFP36421/AFP36422, 2;
FT BAB70781 and 4; AAH24295/AAH33213)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 681 AA; 72708 MW; 5ED0792A8997DFF7 CRC64;
MSKGILQVHP PICDCPGCRI SSPVNRGRLA DKRTVALPAA RNLKKERTPS FSASDGDSDG
SGPTCGRRPG LKQEDGPHIR IMKRRVHTHW DVNISFREAS CSQDGNLPTL ISSVHRSRHL
VMPEHQSRCE FQRGSLEIGL RPAGDLLGKR LGRSPRISSD CFSEKRARSE SPQEALLLPR
ELGPSMAPED HYRRLVSALS EASTFEDPQR LYHLGLPSHG EDPPWHDPPH HLPSHDLLRV
RQEVAAAALR GPSGLEAHLP SSTAGQRRKQ GLAQHREGAA PAAAPSFSER ELPQPPPLLS
PQNAPHVALG PHLRPPFLGV PSALCQTPGY GFLPPAQAEM FAWQQELLRK QNLARLELPA
DLLRQKELES ARPQLLAPET ALRPNDGAEE LQRRGALLVL NHGAAPLLAL PPQGPPGSGP
PTPSRDSARR APRKGGPGPA SARPSESKEM TGARLWAQDG SEDEPPKDSD GEDPETAAVG
CRGPTPGQAP AGGAGAEGKG LFPGSTLPLG FPYAVSPYFH TGAVGGLSMD GEEAPAPEDV
TKWTVDDVCS FVGGLSGCGE YTRVFREQGI DGETLPLLTE EHLLTNMGLK LGPALKIRAQ
VARRLGRVFY VASFPVALPL QPPTLRAPER ELGTGEQPLS PTTATSPYGG GHALAGQTSP
KQENGTLALL PGAPDPSQPL C
