ID   SAM12_HUMAN             Reviewed;         201 AA.
AC   Q8N8I0; Q0P502;
DT   06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-2007, sequence version 2.
DT   03-AUG-2022, entry version 120.
DE   RecName: Full=Sterile alpha motif domain-containing protein 12;
DE            Short=SAM domain-containing protein 12;
GN   Name=SAMD12;
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].
RC   TISSUE=Prostate;
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 MRNA].
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   [3]
RP   INVOLVEMENT IN FAME1.
RX   PubMed=29939203; DOI=10.1093/brain/awy160;
RA   Cen Z., Jiang Z., Chen Y., Zheng X., Xie F., Yang X., Lu X., Ouyang Z.,
RA   Wu H., Chen S., Yin H., Qiu X., Wang S., Ding M., Tang Y., Yu F., Li C.,
RA   Wang T., Ishiura H., Tsuji S., Jiao C., Liu C., Xiao J., Luo W.;
RT   "Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes
RT   familial cortical myoclonic tremor with epilepsy type 1.";
RL   Brain 141:2280-2288(2018).
RN   [4]
RP   INVOLVEMENT IN FAME1, AND TISSUE SPECIFICITY.
RX   PubMed=29507423; DOI=10.1038/s41588-018-0067-2;
RA   Ishiura H., Doi K., Mitsui J., Yoshimura J., Matsukawa M.K., Fujiyama A.,
RA   Toyoshima Y., Kakita A., Takahashi H., Suzuki Y., Sugano S., Qu W.,
RA   Ichikawa K., Yurino H., Higasa K., Shibata S., Mitsue A., Tanaka M.,
RA   Ichikawa Y., Takahashi Y., Date H., Matsukawa T., Kanda J., Nakamoto F.K.,
RA   Higashihara M., Abe K., Koike R., Sasagawa M., Kuroha Y., Hasegawa N.,
RA   Kanesawa N., Kondo T., Hitomi T., Tada M., Takano H., Saito Y., Sanpei K.,
RA   Onodera O., Nishizawa M., Nakamura M., Yasuda T., Sakiyama Y., Otsuka M.,
RA   Ueki A., Kaida K.I., Shimizu J., Hanajima R., Hayashi T., Terao Y.,
RA   Inomata-Terada S., Hamada M., Shirota Y., Kubota A., Ugawa Y., Koh K.,
RA   Takiyama Y., Ohsawa-Yoshida N., Ishiura S., Yamasaki R., Tamaoka A.,
RA   Akiyama H., Otsuki T., Sano A., Ikeda A., Goto J., Morishita S., Tsuji S.;
RT   "Expansions of intronic TTTCA and TTTTA repeats in benign adult familial
RT   myoclonic epilepsy.";
RL   Nat. Genet. 50:581-590(2018).
CC   -!- INTERACTION:
CC       Q8N8I0; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-12965130, EBI-14096082;
CC   -!- TISSUE SPECIFICITY: Expressed in the brain.
CC       {ECO:0000269|PubMed:29507423}.
CC   -!- DISEASE: Epilepsy, familial adult myoclonic, 1 (FAME1) [MIM:601068]: A
CC       form of familial myoclonic epilepsy, a neurologic disorder
CC       characterized by cortical hand tremors, myoclonic jerks and occasional
CC       generalized or focal seizures with a non-progressive or very slowly
CC       progressive disease course. Usually, myoclonic tremor is the presenting
CC       symptom, characterized by tremulous finger movements and myoclonic
CC       jerks of the limbs increased by action and posture. In a minority of
CC       patients, seizures are the presenting symptom. Some patients exhibit
CC       mild cognitive impairment. FAME1 inheritance is autosomal dominant.
CC       {ECO:0000269|PubMed:29507423, ECO:0000269|PubMed:29939203}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
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DR   EMBL; AK096777; BAC04861.1; -; mRNA.
DR   EMBL; BC121818; AAI21819.1; -; mRNA.
DR   EMBL; BC124554; AAI24555.1; -; mRNA.
DR   CCDS; CCDS6325.1; -.
DR   RefSeq; NP_997389.2; NM_207506.2.
DR   AlphaFoldDB; Q8N8I0; -.
DR   SMR; Q8N8I0; -.
DR   BioGRID; 135100; 12.
DR   IntAct; Q8N8I0; 1.
DR   STRING; 9606.ENSP00000314173; -.
DR   iPTMnet; Q8N8I0; -.
DR   PhosphoSitePlus; Q8N8I0; -.
DR   BioMuta; SAMD12; -.
DR   DMDM; 146345509; -.
DR   EPD; Q8N8I0; -.
DR   MassIVE; Q8N8I0; -.
DR   MaxQB; Q8N8I0; -.
DR   PaxDb; Q8N8I0; -.
DR   PeptideAtlas; Q8N8I0; -.
DR   PRIDE; Q8N8I0; -.
DR   ProteomicsDB; 72424; -.
DR   Antibodypedia; 13629; 78 antibodies from 15 providers.
DR   DNASU; 401474; -.
DR   Ensembl; ENST00000314727.9; ENSP00000314173.4; ENSG00000177570.15.
DR   GeneID; 401474; -.
DR   KEGG; hsa:401474; -.
DR   MANE-Select; ENST00000314727.9; ENSP00000314173.4; NM_207506.3; NP_997389.2.
DR   UCSC; uc003yom.3; human.
DR   CTD; 401474; -.
DR   DisGeNET; 401474; -.
DR   GeneCards; SAMD12; -.
DR   HGNC; HGNC:31750; SAMD12.
DR   HPA; ENSG00000177570; Low tissue specificity.
DR   MalaCards; SAMD12; -.
DR   MIM; 601068; phenotype.
DR   MIM; 618073; gene.
DR   neXtProt; NX_Q8N8I0; -.
DR   OpenTargets; ENSG00000177570; -.
DR   Orphanet; 86814; Benign adult familial myoclonic epilepsy.
DR   PharmGKB; PA134993493; -.
DR   VEuPathDB; HostDB:ENSG00000177570; -.
DR   eggNOG; ENOG502RXXU; Eukaryota.
DR   GeneTree; ENSGT00390000008161; -.
DR   HOGENOM; CLU_105476_2_0_1; -.
DR   InParanoid; Q8N8I0; -.
DR   OMA; PSGWMEG; -.
DR   OrthoDB; 1479834at2759; -.
DR   PhylomeDB; Q8N8I0; -.
DR   TreeFam; TF325918; -.
DR   PathwayCommons; Q8N8I0; -.
DR   SignaLink; Q8N8I0; -.
DR   BioGRID-ORCS; 401474; 14 hits in 1065 CRISPR screens.
DR   ChiTaRS; SAMD12; human.
DR   GenomeRNAi; 401474; -.
DR   Pharos; Q8N8I0; Tbio.
DR   PRO; PR:Q8N8I0; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q8N8I0; protein.
DR   Bgee; ENSG00000177570; Expressed in colonic epithelium and 104 other tissues.
DR   ExpressionAtlas; Q8N8I0; baseline and differential.
DR   Genevisible; Q8N8I0; HS.
DR   GO; GO:0009898; C:cytoplasmic side of plasma membrane; IBA:GO_Central.
DR   GO; GO:0007169; P:transmembrane receptor protein tyrosine kinase signaling pathway; IBA:GO_Central.
DR   CDD; cd09510; SAM_aveugle-like; 1.
DR   Gene3D; 1.10.150.50; -; 1.
DR   InterPro; IPR039144; Aveugle-like_SAM_dom.
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   Epilepsy; Reference proteome.
FT   CHAIN           1..201
FT                   /note="Sterile alpha motif domain-containing protein 12"
FT                   /id="PRO_0000279502"
FT   DOMAIN          77..143
FT                   /note="SAM"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT   CONFLICT        172
FT                   /note="T -> A (in Ref. 1; BAC04861)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   201 AA;  22907 MW;  AF6C7991A96B344D CRC64;
     MAVEALHCGL NPRGIDHPAH AEGIKLQIEG EGVESQSIKN KNFQKVPDQK GTPKRLQAEA
     ETAKSATVKL SKPVALWTQQ DVCKWLKKHC PNQYQIYSES FKQHDITGRA LLRLTDKKLE
     RMGIAQENLR QHILQQVLQL KVREEVRNLQ LLTQGTLLLP DGWMDGEIRR KTTLLLGQTG
     VRENLLLFLH RISIIENSIQ I