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Q9H081 (MIS12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein MIS12 homolog
Gene names
Name:MIS12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length205 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Chromosomecentromerekinetochore. 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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 205205Protein MIS12 homolog
PRO_0000248234

Regions

Coiled coil108 – 20598 Potential

Natural variations

Natural variant211M → V.
Corresponds to variant rs16954781 [ dbSNP | Ensembl ].
VAR_034106

Sequences

Sequence LengthMass (Da)Tools
Q9H081 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 8CC906E843D4BD56

FASTA20524,140
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_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.
XP_005256854.1. XM_005256797.2.
XP_005256855.1. XM_005256798.2.
UniGeneHs.267194.

3D structure databases

ProteinModelPortalQ9H081.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122474. 31 interactions.
IntActQ9H081. 26 interactions.
MINTMINT-4718912.
STRING9606.ENSP00000370557.

PTM databases

PhosphoSiteQ9H081.

Polymorphism databases

DMDM74733516.

Proteomic databases

PaxDbQ9H081.
PRIDEQ9H081.

Protocols and materials databases

DNASU79003.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381165; ENSP00000370557; ENSG00000167842.
ENST00000573759; ENSP00000461252; ENSG00000167842.
GeneID79003.
KEGGhsa:79003.
UCSCuc002gcd.4. human.

Organism-specific databases

CTD79003.
GeneCardsGC17P005390.
HGNCHGNC:24967. MIS12.
HPAHPA044482.
MIM609178. gene.
neXtProtNX_Q9H081.
PharmGKBPA134951024.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45566.
HOGENOMHOG000251597.
HOVERGENHBG055269.
InParanoidQ9H081.
KOK11543.
OMAPMAYEAQ.
PhylomeDBQ9H081.
TreeFamTF101136.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.

Gene expression databases

ArrayExpressQ9H081.
BgeeQ9H081.
CleanExHS_MIS12.
GenevestigatorQ9H081.

Family and domain databases

InterProIPR008685. Centromere_Mis12.
[Graphical view]
PfamPF05859. Mis12. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMIS12.
GenomeRNAi79003.
NextBio67625.
PROQ9H081.
SOURCESearch...

Entry information

Entry nameMIS12_HUMAN
AccessionPrimary (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 16, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM