MIS12_HUMAN
ID MIS12_HUMAN Reviewed; 205 AA.
AC Q9H081; Q96N24;
DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Protein MIS12 homolog;
GN Name=MIS12 {ECO:0000312|HGNC:HGNC:24967};
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] {ECO:0000312|EMBL:CAB66840.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis {ECO:0000312|EMBL:CAB66840.1};
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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] {ECO:0000312|EMBL:CAG38491.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000312|EMBL:AAH00229.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye {ECO:0000312|EMBL:AAH00229.1};
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] {ECO:0000305}
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=12515822; DOI=10.1083/jcb.200210005;
RA Goshima G., Kiyomitsu T., Yoda K., Yanagida M.;
RT "Human centromere chromatin protein hMis12, essential for equal
RT segregation, is independent of CENP-A loading pathway.";
RL J. Cell Biol. 160:25-39(2003).
RN [6] {ECO:0000305}
RP FUNCTION, INTERACTION WITH KNL1; CBX3; CBX5; DSN1; NDC80; NSL1; PMF1 AND
RP ZWINT, AND SUBCELLULAR LOCATION.
RX PubMed=15502821; DOI=10.1038/ncb1187;
RA Obuse C., Iwasaki O., Kiyomitsu T., Goshima G., Toyoda Y., Yanagida M.;
RT "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and
RT outer kinetochore protein Zwint-1.";
RL Nat. Cell Biol. 6:1135-1141(2004).
RN [7] {ECO:0000305}
RP FUNCTION, COMPONENT OF MIS12 COMPLEX, AND SUBCELLULAR LOCATION.
RX PubMed=16585270; DOI=10.1083/jcb.200509158;
RA Kline S.L., Cheeseman I.M., Hori T., Fukagawa T., Desai A.;
RT "The human Mis12 complex is required for kinetochore assembly and proper
RT chromosome segregation.";
RL J. Cell Biol. 173:9-17(2006).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP FUNCTION.
RX PubMed=23891108; DOI=10.1016/j.cub.2013.06.040;
RA Shrestha R.L., Draviam V.M.;
RT "Lateral to end-on conversion of chromosome-microtubule attachment requires
RT kinesins CENP-E and MCAK.";
RL Curr. Biol. 23:1514-1526(2013).
RN [10]
RP ERRATUM OF PUBMED:23891108.
RA Shrestha R.L., Draviam V.M.;
RL Curr. Biol. 23:2440-2441(2013).
CC -!- FUNCTION: Part of the MIS12 complex which is required for normal
CC chromosome alignment and segregation and for kinetochore formation
CC during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270).
CC Essential for proper kinetochore microtubule attachments
CC (PubMed:23891108). {ECO:0000269|PubMed:12515822,
CC ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270,
CC ECO:0000269|PubMed:23891108}.
CC -!- SUBUNIT: Component of the MIS12 complex composed of MIS12, DSN1, NSL1
CC and PMF1. Also interacts with KNL1, CBX3, CBX5, NDC80 and ZWINT.
CC {ECO:0000269|PubMed:15502821}.
CC -!- INTERACTION:
CC Q9H081; Q6P1K2: PMF1; NbExp=17; IntAct=EBI-1001205, EBI-713832;
CC -!- SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore
CC {ECO:0000269|PubMed:12515822, ECO:0000269|PubMed:15502821}.
CC Note=Associated with the kinetochore. {ECO:0000269|PubMed:12515822,
CC ECO:0000269|PubMed:15502821}.
CC -!- SIMILARITY: Belongs to the mis12 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AK056072; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL136906; CAB66840.1; -; mRNA.
DR EMBL; AK056072; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR533460; CAG38491.1; -; mRNA.
DR EMBL; BC000229; AAH00229.1; -; mRNA.
DR CCDS; CCDS11074.1; -.
DR RefSeq; NP_001245146.1; NM_001258217.1.
DR RefSeq; NP_001245147.1; NM_001258218.1.
DR RefSeq; NP_001245148.1; NM_001258219.1.
DR RefSeq; NP_001245149.1; NM_001258220.1.
DR RefSeq; NP_076944.1; NM_024039.2.
DR RefSeq; XP_005256854.1; XM_005256797.2.
DR RefSeq; XP_016880522.1; XM_017025033.1.
DR RefSeq; XP_016880523.1; XM_017025034.1.
DR RefSeq; XP_016880524.1; XM_017025035.1.
DR PDB; 5LSJ; X-ray; 3.25 A; A/C=1-205.
DR PDB; 5LSK; X-ray; 3.50 A; A=1-205.
DR PDBsum; 5LSJ; -.
DR PDBsum; 5LSK; -.
DR AlphaFoldDB; Q9H081; -.
DR SMR; Q9H081; -.
DR BioGRID; 122474; 70.
DR ComplexPortal; CPX-5643; Kinetochore MIS12 complex.
DR CORUM; Q9H081; -.
DR IntAct; Q9H081; 46.
DR MINT; Q9H081; -.
DR STRING; 9606.ENSP00000484532; -.
DR iPTMnet; Q9H081; -.
DR PhosphoSitePlus; Q9H081; -.
DR BioMuta; MIS12; -.
DR DMDM; 74733516; -.
DR EPD; Q9H081; -.
DR jPOST; Q9H081; -.
DR MassIVE; Q9H081; -.
DR MaxQB; Q9H081; -.
DR PaxDb; Q9H081; -.
DR PeptideAtlas; Q9H081; -.
DR PRIDE; Q9H081; -.
DR ProteomicsDB; 80215; -.
DR TopDownProteomics; Q9H081; -.
DR Antibodypedia; 23713; 172 antibodies from 24 providers.
DR DNASU; 79003; -.
DR Ensembl; ENST00000381165.3; ENSP00000370557.3; ENSG00000167842.16.
DR Ensembl; ENST00000573759.1; ENSP00000461252.1; ENSG00000167842.16.
DR Ensembl; ENST00000611091.5; ENSP00000484532.1; ENSG00000167842.16.
DR GeneID; 79003; -.
DR KEGG; hsa:79003; -.
DR MANE-Select; ENST00000611091.5; ENSP00000484532.1; NM_001258217.2; NP_001245146.1.
DR UCSC; uc002gcd.5; human.
DR CTD; 79003; -.
DR DisGeNET; 79003; -.
DR GeneCards; MIS12; -.
DR HGNC; HGNC:24967; MIS12.
DR HPA; ENSG00000167842; Low tissue specificity.
DR MIM; 609178; gene.
DR neXtProt; NX_Q9H081; -.
DR OpenTargets; ENSG00000167842; -.
DR PharmGKB; PA134951024; -.
DR VEuPathDB; HostDB:ENSG00000167842; -.
DR eggNOG; ENOG502RXZ1; Eukaryota.
DR GeneTree; ENSGT00390000018665; -.
DR HOGENOM; CLU_097032_0_0_1; -.
DR InParanoid; Q9H081; -.
DR OMA; DYLFEMM; -.
DR OrthoDB; 1197218at2759; -.
DR PhylomeDB; Q9H081; -.
DR TreeFam; TF101136; -.
DR PathwayCommons; Q9H081; -.
DR Reactome; R-HSA-141444; Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal.
DR Reactome; R-HSA-2467813; Separation of Sister Chromatids.
DR Reactome; R-HSA-2500257; Resolution of Sister Chromatid Cohesion.
DR Reactome; R-HSA-5663220; RHO GTPases Activate Formins.
DR Reactome; R-HSA-68877; Mitotic Prometaphase.
DR Reactome; R-HSA-9648025; EML4 and NUDC in mitotic spindle formation.
DR SignaLink; Q9H081; -.
DR SIGNOR; Q9H081; -.
DR BioGRID-ORCS; 79003; 628 hits in 1086 CRISPR screens.
DR ChiTaRS; MIS12; human.
DR GeneWiki; MIS12; -.
DR GenomeRNAi; 79003; -.
DR Pharos; Q9H081; Tbio.
DR PRO; PR:Q9H081; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9H081; protein.
DR Bgee; ENSG00000167842; Expressed in corpus epididymis and 196 other tissues.
DR ExpressionAtlas; Q9H081; baseline and differential.
DR Genevisible; Q9H081; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0000776; C:kinetochore; IDA:WormBase.
DR GO; GO:0000444; C:MIS12/MIND type complex; IDA:UniProtKB.
DR GO; GO:0031617; C:NMS complex; IC:ComplexPortal.
DR GO; GO:0000818; C:nuclear MIS12/MIND complex; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IDA:LIFEdb.
DR GO; GO:0051315; P:attachment of mitotic spindle microtubules to kinetochore; IMP:UniProtKB.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0007059; P:chromosome segregation; IMP:UniProtKB.
DR GO; GO:0051382; P:kinetochore assembly; IDA:UniProtKB.
DR GO; GO:0000070; P:mitotic sister chromatid segregation; IBA:GO_Central.
DR GO; GO:0034501; P:protein localization to kinetochore; IBA:GO_Central.
DR InterPro; IPR008685; Centromere_Mis12.
DR PANTHER; PTHR14527; PTHR14527; 1.
DR Pfam; PF05859; Mis12; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell cycle; Cell division; Centromere; Chromosome;
KW Chromosome partition; Coiled coil; Kinetochore; Mitosis;
KW Reference proteome.
FT CHAIN 1..205
FT /note="Protein MIS12 homolog"
FT /id="PRO_0000248234"
FT COILED 108..205
FT /evidence="ECO:0000255"
FT VARIANT 21
FT /note="M -> V (in dbSNP:rs16954781)"
FT /id="VAR_034106"
FT TURN 7..12
FT /evidence="ECO:0007829|PDB:5LSJ"
FT STRAND 13..15
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 17..47
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 57..89
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 100..102
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 104..106
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 111..167
FT /evidence="ECO:0007829|PDB:5LSJ"
FT TURN 168..170
FT /evidence="ECO:0007829|PDB:5LSJ"
FT HELIX 174..197
FT /evidence="ECO:0007829|PDB:5LSJ"
SQ SEQUENCE 205 AA; 24140 MW; 8CC906E843D4BD56 CRC64;
MSVDPMTYEA QFFGFTPQTC MLRIYIAFQD YLFEVMQAVE QVILKKLDGI PDCDISPVQI
RKCTEKFLCF MKGHFDNLFS KMEQLFLQLI LRIPSNILLP EDKCKETPYS EEDFQHLQKE
IEQLQEKYKT ELCTKQALLA ELEEQKIVQA KLKQTLTFFD ELHNVGRDHG TSDFRESLVS
LVQNSRKLQN IRDNVEKESK RLKIS
