Q9H081 (MIS12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein MIS12 homolog

Gene names

Name:

MIS12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	205 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis. Ref.5 Ref.6 Ref.7
Subunit structure	Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3, CBX5, NDC80 and ZWINT. Ref.6
Subcellular location	Nucleus. Chromosome › centromere › kinetochore. Note: Associated with the kinetochore. Ref.5 Ref.6 Ref.7
Sequence similarities	Belongs to the mis12 family.
Sequence caution	The sequence AK056072 differs from that shown. Reason: Frameshift at position 147.

Ontologies

Keywords
Biological process	Cell cycle Cell division Chromosome partition Mitosis
Cellular component	Centromere Chromosome Kinetochore Nucleus
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell division Inferred from electronic annotation. Source: UniProtKB-KW chromosome segregation Inferred from mutant phenotype Ref.5Ref.7. Source: UniProtKB kinetochore assembly Inferred from direct assay Ref.7. Source: UniProtKB mitotic prometaphase Traceable author statement. Source: Reactome
Cellular_component	MIS12/MIND type complex Inferred from direct assay Ref.7. Source: UniProtKB cytosol Traceable author statement. Source: Reactome nucleus Inferred from direct assay. Source: LIFEdb
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 205	205	Protein MIS12 homolog		PRO_0000248234
Regions
	Coiled coil	108 – 205	98	Potential
Natural variations
	Natural variant	21	1	M → V. Corresponds to variant rs16954781 [ dbSNP | Ensembl ].		VAR_034106

Sequences

	Sequence		Length	Mass (Da)
	Q9H081 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 8CC906E843D4BD56	FASTA	205	24,140
	10 20 30 40 50 60 MSVDPMTYEA QFFGFTPQTC MLRIYIAFQD YLFEVMQAVE QVILKKLDGI PDCDISPVQI 70 80 90 100 110 120 RKCTEKFLCF MKGHFDNLFS KMEQLFLQLI LRIPSNILLP EDKCKETPYS EEDFQHLQKE 130 140 150 160 170 180 IEQLQEKYKT ELCTKQALLA ELEEQKIVQA KLKQTLTFFD ELHNVGRDHG TSDFRESLVS 190 200 LVQNSRKLQN IRDNVEKESK RLKIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[5]	"Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway." Goshima G., Kiyomitsu T., Yoda K., Yanagida M. J. Cell Biol. 160:25-39(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[6]	"A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1." Obuse C., Iwasaki O., Kiyomitsu T., Goshima G., Toyoda Y., Yanagida M. Nat. Cell Biol. 6:1135-1141(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CASC5; CBX3; CBX5; DSN1; NDC80; NSL1; PMF1 AND ZWINT, SUBCELLULAR LOCATION.
[7]	"The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation." Kline S.L., Cheeseman I.M., Hori T., Fukagawa T., Desai A. J. Cell Biol. 173:9-17(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, COMPONENT OF MIS12 COMPLEX, SUBCELLULAR LOCATION.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136906 mRNA. Translation: CAB66840.1. AK056072 mRNA. No translation available. CR533460 mRNA. Translation: CAG38491.1. BC000229 mRNA. Translation: AAH00229.1.
IPI	IPI00031527.
RefSeq	NP_001245146.1. NM_001258217.1. NP_001245147.1. NM_001258218.1. NP_001245148.1. NM_001258219.1. NP_001245149.1. NM_001258220.1. NP_076944.1. NM_024039.2.
UniGene	Hs.267194.
3D structure databases
ProteinModelPortal	Q9H081.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H081. 26 interactions.
STRING	9606.ENSP00000370557.
PTM databases
PhosphoSite	Q9H081.
Polymorphism databases
DMDM	74733516.
Proteomic databases
PaxDb	Q9H081.
PRIDE	Q9H081.
Protocols and materials databases
DNASU	79003.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381165; ENSP00000370557; ENSG00000167842. ENST00000573759; ENSP00000461252; ENSG00000167842.
GeneID	79003.
KEGG	hsa:79003.
UCSC	uc002gcd.3. human.
Organism-specific databases
CTD	79003.
GeneCards	GC17P005390.
HGNC	HGNC:24967. MIS12.
HPA	HPA044482.
MIM	609178. gene.
neXtProt	NX_Q9H081.
PharmGKB	PA134951024.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45566.
HOGENOM	HOG000251597.
HOVERGEN	HBG055269.
InParanoid	Q9H081.
KO	K11543.
OMA	TCMLRVY.
OrthoDB	EOG4N30Q9.
PhylomeDB	Q9H081.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle. REACT_21300. Mitotic M-M/G1 phases.
Gene expression databases
ArrayExpress	Q9H081.
Bgee	Q9H081.
CleanEx	HS_MIS12.
Genevestigator	Q9H081.
GermOnline	ENSG00000167842. Homo sapiens.
Family and domain databases
InterPro	IPR008685. Centromere_Mis12. [Graphical view]
Pfam	PF05859. Mis12. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79003.
NextBio	67625.
SOURCE	Search...

Entry information

Entry name

MIS12_HUMAN

Accession

Primary (citable) accession number: Q9H081
Secondary accession number(s): Q96N24

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	March 1, 2001
Last modified:	April 3, 2013
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.