P1L12_HUMAN
ID P1L12_HUMAN Reviewed; 296 AA.
AC Q8N7R1; Q8NDI9;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=POM121-like protein 12;
GN Name=POM121L12;
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], AND VARIANT GLU-64.
RC TISSUE=Testis;
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 115-296.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- SIMILARITY: Belongs to the POM121 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05166.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD38744.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};
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DR EMBL; AK097768; BAC05166.1; ALT_INIT; mRNA.
DR EMBL; AC074397; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL833888; CAD38744.1; ALT_SEQ; mRNA.
DR CCDS; CCDS43584.1; -.
DR RefSeq; NP_872401.3; NM_182595.3.
DR AlphaFoldDB; Q8N7R1; -.
DR IntAct; Q8N7R1; 1.
DR MINT; Q8N7R1; -.
DR STRING; 9606.ENSP00000386133; -.
DR iPTMnet; Q8N7R1; -.
DR PhosphoSitePlus; Q8N7R1; -.
DR BioMuta; POM121L12; -.
DR DMDM; 327478566; -.
DR MassIVE; Q8N7R1; -.
DR PaxDb; Q8N7R1; -.
DR PeptideAtlas; Q8N7R1; -.
DR PRIDE; Q8N7R1; -.
DR Antibodypedia; 52280; 5 antibodies from 5 providers.
DR DNASU; 285877; -.
DR Ensembl; ENST00000408890.6; ENSP00000386133.3; ENSG00000221900.6.
DR GeneID; 285877; -.
DR KEGG; hsa:285877; -.
DR MANE-Select; ENST00000408890.6; ENSP00000386133.3; NM_182595.4; NP_872401.3.
DR UCSC; uc003tpz.4; human.
DR CTD; 285877; -.
DR GeneCards; POM121L12; -.
DR HGNC; HGNC:25369; POM121L12.
DR HPA; ENSG00000221900; Tissue enriched (testis).
DR neXtProt; NX_Q8N7R1; -.
DR OpenTargets; ENSG00000221900; -.
DR VEuPathDB; HostDB:ENSG00000221900; -.
DR eggNOG; ENOG502RWWF; Eukaryota.
DR GeneTree; ENSGT00940000153253; -.
DR HOGENOM; CLU_080461_0_0_1; -.
DR InParanoid; Q8N7R1; -.
DR OMA; CAWEGCM; -.
DR OrthoDB; 355024at2759; -.
DR PhylomeDB; Q8N7R1; -.
DR PathwayCommons; Q8N7R1; -.
DR SignaLink; Q8N7R1; -.
DR BioGRID-ORCS; 285877; 12 hits in 1062 CRISPR screens.
DR ChiTaRS; POM121L12; human.
DR GenomeRNAi; 285877; -.
DR Pharos; Q8N7R1; Tdark.
DR PRO; PR:Q8N7R1; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N7R1; protein.
DR Bgee; ENSG00000221900; Expressed in left testis and 10 other tissues.
DR Genevisible; Q8N7R1; HS.
DR GO; GO:0005643; C:nuclear pore; IBA:GO_Central.
DR GO; GO:0008139; F:nuclear localization sequence binding; IBA:GO_Central.
DR GO; GO:0017056; F:structural constituent of nuclear pore; IBA:GO_Central.
DR GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR GO; GO:0006405; P:RNA export from nucleus; IBA:GO_Central.
DR InterPro; IPR026054; Nucleoporin.
DR PANTHER; PTHR23193; PTHR23193; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..296
FT /note="POM121-like protein 12"
FT /id="PRO_0000348453"
FT REGION 1..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 142..162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 34..54
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 21
FT /note="P -> T (in dbSNP:rs10229800)"
FT /id="VAR_046180"
FT VARIANT 64
FT /note="Q -> E (in dbSNP:rs11238247)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046181"
FT VARIANT 188
FT /note="G -> E (in dbSNP:rs1689291)"
FT /id="VAR_046182"
FT CONFLICT 144
FT /note="P -> S (in Ref. 3; CAD38744)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 296 AA; 31848 MW; 10434551DF3C2FC1 CRC64;
MGAAAPAESA DLGNFWKAGE PLLQGPDALA APMSRSPSTP QTTPSPQGRQ SPWPLRSLTQ
SHIQYFQWGR PVPSTHLIEV RPTQDPAKPQ RVVSEGWRRP ALPGETALGR DLSCAWEGCM
KGGLCRAWNP GRTWSPVTIG IAPPERQESP WRSPGQRARP AGRPAAQELL DPCTRETLLG
ALSQCPKGSA RFDGPLWFEV SDSKGGRRNL QPRPSAFKPL SKNGAVASFV PRPGPLKPSL
GPWSLSFCDD AWPSVLVQPA PSAIWDFWEA TTPSCGSCSR VSFALEVTQS AGPFGS
