SN12L_HUMAN
ID SN12L_HUMAN Reviewed; 588 AA.
AC Q6IEE8; F5H6G3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 4.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Schlafen family member 12-like;
GN Name=SLFN12L; Synonyms=SLFN5;
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).
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP IDENTIFICATION (ISOFORM 1).
RX PubMed=14569139; DOI=10.1136/jmg.40.10.e116;
RA Kehrer-Sawatzki H., Tinschert S., Jenne D.E.;
RT "Heterogeneity of breakpoints in non-LCR-mediated large constitutional
RT deletions of the 17q11.2 NF1 tumour suppressor region.";
RL J. Med. Genet. 40:E116-E116(2003).
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6IEE8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6IEE8-2; Sequence=VSP_040137;
CC -!- SIMILARITY: Belongs to the Schlafen family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD80167.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK172761; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC015911; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BN000147; CAD80167.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001182719.1; NM_001195790.1. [Q6IEE8-1]
DR RefSeq; XP_016879494.1; XM_017024005.1.
DR RefSeq; XP_016879495.1; XM_017024006.1. [Q6IEE8-1]
DR RefSeq; XP_016879496.1; XM_017024007.1. [Q6IEE8-1]
DR AlphaFoldDB; Q6IEE8; -.
DR SMR; Q6IEE8; -.
DR BioGRID; 131188; 3.
DR IntAct; Q6IEE8; 3.
DR STRING; 9606.ENSP00000437635; -.
DR iPTMnet; Q6IEE8; -.
DR PhosphoSitePlus; Q6IEE8; -.
DR BioMuta; SLFN12L; -.
DR DMDM; 313104287; -.
DR jPOST; Q6IEE8; -.
DR MassIVE; Q6IEE8; -.
DR MaxQB; Q6IEE8; -.
DR PaxDb; Q6IEE8; -.
DR PeptideAtlas; Q6IEE8; -.
DR PRIDE; Q6IEE8; -.
DR ProteomicsDB; 27182; -.
DR ProteomicsDB; 66410; -. [Q6IEE8-1]
DR ProteomicsDB; 66411; -. [Q6IEE8-2]
DR Antibodypedia; 7340; 65 antibodies from 12 providers.
DR DNASU; 100506736; -.
DR GeneID; 100506736; -.
DR KEGG; hsa:100506736; -.
DR UCSC; uc002hjn.4; human. [Q6IEE8-1]
DR CTD; 100506736; -.
DR DisGeNET; 100506736; -.
DR GeneCards; SLFN12L; -.
DR HGNC; HGNC:33920; SLFN12L.
DR HPA; ENSG00000205045; Tissue enhanced (lymphoid).
DR MIM; 614956; gene.
DR neXtProt; NX_Q6IEE8; -.
DR PharmGKB; PA162403886; -.
DR VEuPathDB; HostDB:ENSG00000205045; -.
DR eggNOG; ENOG502RU3F; Eukaryota.
DR HOGENOM; CLU_034558_0_0_1; -.
DR InParanoid; Q6IEE8; -.
DR OMA; VKMGGYT; -.
DR OrthoDB; 211385at2759; -.
DR TreeFam; TF337168; -.
DR PathwayCommons; Q6IEE8; -.
DR SignaLink; Q6IEE8; -.
DR BioGRID-ORCS; 100506736; 16 hits in 1061 CRISPR screens.
DR ChiTaRS; SLFN12L; human.
DR GenomeRNAi; 100506736; -.
DR Pharos; Q6IEE8; Tbio.
DR PRO; PR:Q6IEE8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6IEE8; protein.
DR ExpressionAtlas; Q6IEE8; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.30.950.30; -; 1.
DR InterPro; IPR029684; Schlafen.
DR InterPro; IPR007421; Schlafen_AlbA_2_dom.
DR InterPro; IPR038461; Schlafen_AlbA_2_dom_sf.
DR PANTHER; PTHR12155; PTHR12155; 1.
DR Pfam; PF04326; AlbA_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..588
FT /note="Schlafen family member 12-like"
FT /id="PRO_0000336097"
FT TRANSMEM 566..586
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..4
FT /note="MDLA -> MAMKIMEKIRNVFHCEAHRILYICESQFLRNFI (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040137"
FT VARIANT 275
FT /note="L -> S (in dbSNP:rs12451679)"
FT /id="VAR_043551"
FT VARIANT 373
FT /note="A -> G (in dbSNP:rs2304967)"
FT /id="VAR_043552"
FT VARIANT 430
FT /note="C -> Y (in dbSNP:rs777316634)"
FT /id="VAR_043553"
FT VARIANT 518
FT /note="Y -> S (in dbSNP:rs3744372)"
FT /id="VAR_043554"
FT CONFLICT Q6IEE8-2:13
FT /note="F -> S (in Ref. 1; AK172761)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 588 AA; 67096 MW; C8B7C194140C6A50 CRC64;
MDLARKEFLR GNGLAAGKMN ISIDLDTNYA ELVLNVGRVT LGENNRKKMK DCQLRKQQNE
NVSRAVCALL NSGGGVIKAE VENKGYSYKK DGIGLDLENS FSNMLPFVPN FLDFMQNGNY
FHIFVKSWSL ETSGPQIATL SSSLYKRDVT SAKVMNASAA LEFLKDMEKT GGRAYLRPEF
PAKRACVDVQ EESNMEALAA DFFNRTELGY KEKLTFTEST HVEIKNFSTE KLLQRITEIL
PQYVSAFANT DGGYLFVGLN EDKEVIGFKA EKSYLTKLEE VTKNSIGKLP VHHFCVEKGT
INYLCKFLGV YDKGRLCGYV YALRVERFCC AVFAKKPDSW HVKDNRVKQL TEKEWIQFMV
DSEPVCEELP SPASTSSPVS QSYPLREYIN FKIQPLRYHL PGLSEKITCA PKTFCRNLFS
QHEGLKQLIC EEMGSVNKGS LIFSRSWSLD LGLQENHKVL CDALLISQDK PPVLYTFHMV
QDEEFKDYST QTAQTLKQKL AKIGGYTKKV CVMTKIFYLS PEGKTSCQYD LNSQVIYPES
YYWTTAQTMK DLEKALSNIL PKENQIFLFV CLFRFCLFVC WFVCFFLR
