SAMD3_HUMAN
ID SAMD3_HUMAN Reviewed; 520 AA.
AC Q8N6K7; B4DY20; E1P576; J3KQK4; Q4VXD8; Q8NAY1; Q8NB96;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Sterile alpha motif domain-containing protein 3;
DE Short=SAM domain-containing protein 3;
GN Name=SAMD3;
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] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Kidney;
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 2), AND VARIANT LYS-94.
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 [5]
RP VARIANT ASN-181.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- INTERACTION:
CC Q8N6K7; Q99996-2: AKAP9; NbExp=3; IntAct=EBI-748741, EBI-9641546;
CC Q8N6K7; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-748741, EBI-749051;
CC Q8N6K7; P10809: HSPD1; NbExp=4; IntAct=EBI-748741, EBI-352528;
CC Q8N6K7; O60341: KDM1A; NbExp=2; IntAct=EBI-748741, EBI-710124;
CC Q8N6K7; Q8TAP4: LMO3; NbExp=3; IntAct=EBI-748741, EBI-742259;
CC Q8N6K7-2; P54253: ATXN1; NbExp=3; IntAct=EBI-11528848, EBI-930964;
CC Q8N6K7-2; Q9UBB4: ATXN10; NbExp=3; IntAct=EBI-11528848, EBI-702390;
CC Q8N6K7-2; P09172: DBH; NbExp=3; IntAct=EBI-11528848, EBI-8589586;
CC Q8N6K7-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-11528848, EBI-10976677;
CC Q8N6K7-2; Q16595: FXN; NbExp=3; IntAct=EBI-11528848, EBI-949340;
CC Q8N6K7-2; P14136: GFAP; NbExp=3; IntAct=EBI-11528848, EBI-744302;
CC Q8N6K7-2; P04792: HSPB1; NbExp=3; IntAct=EBI-11528848, EBI-352682;
CC Q8N6K7-2; O43464: HTRA2; NbExp=3; IntAct=EBI-11528848, EBI-517086;
CC Q8N6K7-2; P42858: HTT; NbExp=3; IntAct=EBI-11528848, EBI-466029;
CC Q8N6K7-2; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-11528848, EBI-1055254;
CC Q8N6K7-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-11528848, EBI-10975473;
CC Q8N6K7-2; Q99732: LITAF; NbExp=3; IntAct=EBI-11528848, EBI-725647;
CC Q8N6K7-2; P19404: NDUFV2; NbExp=3; IntAct=EBI-11528848, EBI-713665;
CC Q8N6K7-2; P29474: NOS3; NbExp=3; IntAct=EBI-11528848, EBI-1391623;
CC Q8N6K7-2; P05129: PRKCG; NbExp=3; IntAct=EBI-11528848, EBI-949799;
CC Q8N6K7-2; P04156: PRNP; NbExp=3; IntAct=EBI-11528848, EBI-977302;
CC Q8N6K7-2; P41219: PRPH; NbExp=3; IntAct=EBI-11528848, EBI-752074;
CC Q8N6K7-2; P60891: PRPS1; NbExp=3; IntAct=EBI-11528848, EBI-749195;
CC Q8N6K7-2; Q7Z333: SETX; NbExp=3; IntAct=EBI-11528848, EBI-1220123;
CC Q8N6K7-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-11528848, EBI-5235340;
CC Q8N6K7-2; O76024: WFS1; NbExp=3; IntAct=EBI-11528848, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N6K7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6K7-2; Sequence=VSP_023459, VSP_023460;
CC Name=3;
CC IsoId=Q8N6K7-3; Sequence=VSP_055738;
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DR EMBL; AK091351; BAC03644.1; -; mRNA.
DR EMBL; AK091882; BAC03765.1; -; mRNA.
DR EMBL; AK302228; BAG63582.1; -; mRNA.
DR EMBL; AL355581; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121947; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48069.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48070.1; -; Genomic_DNA.
DR EMBL; BC029851; AAH29851.1; -; mRNA.
DR EMBL; BC119757; AAI19758.1; -; mRNA.
DR EMBL; BC119758; AAI19759.1; -; mRNA.
DR CCDS; CCDS34539.1; -. [Q8N6K7-1]
DR CCDS; CCDS64525.1; -. [Q8N6K7-3]
DR RefSeq; NP_001017373.2; NM_001017373.3. [Q8N6K7-1]
DR RefSeq; NP_001245204.1; NM_001258275.2. [Q8N6K7-1]
DR RefSeq; NP_001264114.1; NM_001277185.1. [Q8N6K7-3]
DR RefSeq; XP_016865795.1; XM_017010306.1.
DR AlphaFoldDB; Q8N6K7; -.
DR SMR; Q8N6K7; -.
DR BioGRID; 127533; 18.
DR IntAct; Q8N6K7; 28.
DR MINT; Q8N6K7; -.
DR STRING; 9606.ENSP00000402092; -.
DR iPTMnet; Q8N6K7; -.
DR PhosphoSitePlus; Q8N6K7; -.
DR BioMuta; SAMD3; -.
DR DMDM; 147668009; -.
DR EPD; Q8N6K7; -.
DR MassIVE; Q8N6K7; -.
DR PaxDb; Q8N6K7; -.
DR PeptideAtlas; Q8N6K7; -.
DR PRIDE; Q8N6K7; -.
DR ProteomicsDB; 72185; -. [Q8N6K7-1]
DR ProteomicsDB; 72186; -. [Q8N6K7-2]
DR Antibodypedia; 32851; 117 antibodies from 19 providers.
DR DNASU; 154075; -.
DR Ensembl; ENST00000324172.10; ENSP00000324874.6; ENSG00000164483.17. [Q8N6K7-2]
DR Ensembl; ENST00000368134.6; ENSP00000357116.2; ENSG00000164483.17. [Q8N6K7-1]
DR Ensembl; ENST00000437477.6; ENSP00000391163.2; ENSG00000164483.17. [Q8N6K7-1]
DR Ensembl; ENST00000439090.7; ENSP00000403565.2; ENSG00000164483.17. [Q8N6K7-1]
DR Ensembl; ENST00000457563.6; ENSP00000402092.2; ENSG00000164483.17. [Q8N6K7-3]
DR GeneID; 154075; -.
DR KEGG; hsa:154075; -.
DR MANE-Select; ENST00000439090.7; ENSP00000403565.2; NM_001017373.4; NP_001017373.2.
DR UCSC; uc003qbw.5; human. [Q8N6K7-1]
DR CTD; 154075; -.
DR DisGeNET; 154075; -.
DR GeneCards; SAMD3; -.
DR HGNC; HGNC:21574; SAMD3.
DR HPA; ENSG00000164483; Tissue enhanced (lymphoid).
DR neXtProt; NX_Q8N6K7; -.
DR OpenTargets; ENSG00000164483; -.
DR PharmGKB; PA134880481; -.
DR VEuPathDB; HostDB:ENSG00000164483; -.
DR eggNOG; KOG1945; Eukaryota.
DR GeneTree; ENSGT00390000012396; -.
DR HOGENOM; CLU_040548_0_0_1; -.
DR InParanoid; Q8N6K7; -.
DR OMA; VFGIQCP; -.
DR OrthoDB; 439825at2759; -.
DR PhylomeDB; Q8N6K7; -.
DR TreeFam; TF336040; -.
DR PathwayCommons; Q8N6K7; -.
DR SignaLink; Q8N6K7; -.
DR BioGRID-ORCS; 154075; 9 hits in 1062 CRISPR screens.
DR ChiTaRS; SAMD3; human.
DR GenomeRNAi; 154075; -.
DR Pharos; Q8N6K7; Tbio.
DR PRO; PR:Q8N6K7; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N6K7; protein.
DR Bgee; ENSG00000164483; Expressed in granulocyte and 96 other tissues.
DR ExpressionAtlas; Q8N6K7; baseline and differential.
DR Genevisible; Q8N6K7; HS.
DR CDD; cd09526; SAM_Samd3; 1.
DR Gene3D; 1.10.150.50; -; 1.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR InterPro; IPR042812; SAMD3.
DR InterPro; IPR042813; SAMD3_SAM.
DR PANTHER; PTHR47302; PTHR47302; 1.
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; Reference proteome.
FT CHAIN 1..520
FT /note="Sterile alpha motif domain-containing protein 3"
FT /id="PRO_0000279496"
FT DOMAIN 4..71
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT REGION 85..114
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MRSSKLQSPSPSQEKQGVYLQETAM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055738"
FT VAR_SEQ 219..221
FT /note="FLW -> AGV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023459"
FT VAR_SEQ 222..520
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023460"
FT VARIANT 94
FT /note="E -> K (in dbSNP:rs17852709)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030910"
FT VARIANT 181
FT /note="D -> N (in dbSNP:rs150968705)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069418"
FT CONFLICT 276
FT /note="E -> V (in Ref. 1; BAG63582)"
FT /evidence="ECO:0000305"
FT CONFLICT 472
FT /note="A -> G (in Ref. 1; BAC03765)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 61237 MW; 660A7C0CF9CC6261 CRC64;
METWSVEQVC SWLVEKNLGE LVHRFQEEEV SGAALLALND RMVQQLVKKI GHQAVLMDLI
KKYKQNTQGL KSPENPKKAA LVMQTEAARD YRDEESSSPA RHGEQMPSFY PAENLDNGLI
DQRVLKQRRN VKQILARSKA LQWTKSYVLP EFPYDVKCML AEQKCPDHSM RIRIIEFLQA
DMTKYLEGSL YPSTQQYNDV VNALLQAHPF LDEDGCGFFL WKRALKDRFK YVRRPIEDDE
QVIRNKCKFG HRRGQTRKSL ADIRFDEIKL VQIKEEAVCF DSELDEHIKW FQQEYVKTEK
DWREIDKRMS QTLEIRRKMI GSRTPLKDIL KLFPFLKCPY QMFREFQLLT RTDIYKKTRH
ILESYSENIL TSFSVVDNPI NIVLQEKMKH YTDEDMLKYM KMTATCLLLP DVFGDDPSLF
VIMNEQVQVS TPVLEVKNPF NMEVCEFSLY LERERLTKVD DCVTALAALV AAFHVFRIEC
PRRLSQTFNF LETLIFDMHS PYFPSLKEKE NEVGFQHPLT
