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Protein

Protein MIS12 homolog

Gene

MIS12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108).4 Publications

GO - Biological processi

  • attachment of mitotic spindle microtubules to kinetochore Source: UniProtKB
  • cell division Source: UniProtKB-KW
  • chromosome segregation Source: UniProtKB
  • kinetochore assembly Source: UniProtKB
  • mitotic sister chromatid segregation Source: GO_Central
  • protein localization to kinetochore Source: GO_Central

Keywordsi

Biological processCell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-68877 Mitotic Prometaphase

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MIS12 homolog
Gene namesi
Name:MIS12Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000167842.15
HGNCiHGNC:24967 MIS12
MIMi609178 gene
neXtProtiNX_Q9H081

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore

Pathology & Biotechi

Organism-specific databases

DisGeNETi79003
OpenTargetsiENSG00000167842
PharmGKBiPA134951024

Polymorphism and mutation databases

BioMutaiMIS12
DMDMi74733516

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002482341 – 205Protein MIS12 homologAdd BLAST205

Proteomic databases

EPDiQ9H081
MaxQBiQ9H081
PaxDbiQ9H081
PeptideAtlasiQ9H081
PRIDEiQ9H081
ProteomicsDBi80215
TopDownProteomicsiQ9H081

PTM databases

iPTMnetiQ9H081
PhosphoSitePlusiQ9H081

Expressioni

Gene expression databases

BgeeiENSG00000167842 Expressed in 216 organ(s), highest expression level in kidney
CleanExiHS_MIS12
ExpressionAtlasiQ9H081 baseline and differential
GenevisibleiQ9H081 HS

Organism-specific databases

HPAiHPA044482

Interactioni

Subunit structurei

Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with KNL1, CBX3, CBX5, NDC80 and ZWINT.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PMF1Q6P1K210EBI-1001205,EBI-713832

Protein-protein interaction databases

BioGridi122474, 39 interactors
CORUMiQ9H081
IntActiQ9H081, 38 interactors
MINTiQ9H081
STRINGi9606.ENSP00000370557

Structurei

Secondary structure

1205
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H081
SMRiQ9H081
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili108 – 205Sequence analysisAdd BLAST98

Sequence similaritiesi

Belongs to the mis12 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IQVW Eukaryota
ENOG4111HUU LUCA
GeneTreeiENSGT00390000018665
HOGENOMiHOG000251597
HOVERGENiHBG055269
InParanoidiQ9H081
KOiK11543
OMAiDKSQEMH
OrthoDBiEOG091G0O0P
PhylomeDBiQ9H081
TreeFamiTF101136

Family and domain databases

InterProiView protein in InterPro
IPR008685 Centromere_Mis12
PANTHERiPTHR14527 PTHR14527, 1 hit
PfamiView protein in Pfam
PF05859 Mis12, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9H081-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSVDPMTYEA QFFGFTPQTC MLRIYIAFQD YLFEVMQAVE QVILKKLDGI
60 70 80 90 100
PDCDISPVQI RKCTEKFLCF MKGHFDNLFS KMEQLFLQLI LRIPSNILLP
110 120 130 140 150
EDKCKETPYS EEDFQHLQKE IEQLQEKYKT ELCTKQALLA ELEEQKIVQA
160 170 180 190 200
KLKQTLTFFD ELHNVGRDHG TSDFRESLVS LVQNSRKLQN IRDNVEKESK

RLKIS
Length:205
Mass (Da):24,140
Last modified:March 1, 2001 - v1
Checksum:i8CC906E843D4BD56
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L4K6I3L4K6_HUMAN
Protein MIS12 homolog
MIS12
125Annotation score:
I3L244I3L244_HUMAN
Protein MIS12 homolog
MIS12
24Annotation score:

Sequence cautioni

The sequence AK056072 differs from that shown. Reason: Frameshift at position 147.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03410621M → V. Corresponds to variant dbSNP:rs16954781Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136906 mRNA Translation: CAB66840.1
AK056072 mRNA No translation available.
CR533460 mRNA Translation: CAG38491.1
BC000229 mRNA Translation: AAH00229.1
CCDSiCCDS11074.1
RefSeqiNP_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_016880522.1, XM_017025033.1
XP_016880523.1, XM_017025034.1
XP_016880524.1, XM_017025035.1
UniGeneiHs.267194

Genome annotation databases

EnsembliENST00000381165; ENSP00000370557; ENSG00000167842
ENST00000573759; ENSP00000461252; ENSG00000167842
ENST00000611091; ENSP00000484532; ENSG00000167842
GeneIDi79003
KEGGihsa:79003
UCSCiuc002gcd.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136906 mRNA Translation: CAB66840.1
AK056072 mRNA No translation available.
CR533460 mRNA Translation: CAG38491.1
BC000229 mRNA Translation: AAH00229.1
CCDSiCCDS11074.1
RefSeqiNP_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_016880522.1, XM_017025033.1
XP_016880523.1, XM_017025034.1
XP_016880524.1, XM_017025035.1
UniGeneiHs.267194

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LSJX-ray3.25A/C1-205[»]
5LSKX-ray3.50A1-205[»]
ProteinModelPortaliQ9H081
SMRiQ9H081
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122474, 39 interactors
CORUMiQ9H081
IntActiQ9H081, 38 interactors
MINTiQ9H081
STRINGi9606.ENSP00000370557

PTM databases

iPTMnetiQ9H081
PhosphoSitePlusiQ9H081

Polymorphism and mutation databases

BioMutaiMIS12
DMDMi74733516

Proteomic databases

EPDiQ9H081
MaxQBiQ9H081
PaxDbiQ9H081
PeptideAtlasiQ9H081
PRIDEiQ9H081
ProteomicsDBi80215
TopDownProteomicsiQ9H081

Protocols and materials databases

DNASUi79003
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381165; ENSP00000370557; ENSG00000167842
ENST00000573759; ENSP00000461252; ENSG00000167842
ENST00000611091; ENSP00000484532; ENSG00000167842
GeneIDi79003
KEGGihsa:79003
UCSCiuc002gcd.5 human

Organism-specific databases

CTDi79003
DisGeNETi79003
EuPathDBiHostDB:ENSG00000167842.15
GeneCardsiMIS12
HGNCiHGNC:24967 MIS12
HPAiHPA044482
MIMi609178 gene
neXtProtiNX_Q9H081
OpenTargetsiENSG00000167842
PharmGKBiPA134951024
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQVW Eukaryota
ENOG4111HUU LUCA
GeneTreeiENSGT00390000018665
HOGENOMiHOG000251597
HOVERGENiHBG055269
InParanoidiQ9H081
KOiK11543
OMAiDKSQEMH
OrthoDBiEOG091G0O0P
PhylomeDBiQ9H081
TreeFamiTF101136

Enzyme and pathway databases

ReactomeiR-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-68877 Mitotic Prometaphase

Miscellaneous databases

GeneWikiiMIS12
GenomeRNAii79003
PROiPR:Q9H081
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167842 Expressed in 216 organ(s), highest expression level in kidney
CleanExiHS_MIS12
ExpressionAtlasiQ9H081 baseline and differential
GenevisibleiQ9H081 HS

Family and domain databases

InterProiView protein in InterPro
IPR008685 Centromere_Mis12
PANTHERiPTHR14527 PTHR14527, 1 hit
PfamiView protein in Pfam
PF05859 Mis12, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMIS12_HUMAN
AccessioniPrimary (citable) accession number: Q9H081
Secondary accession number(s): Q96N24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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