InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIF22

Summary

InnateDB Protein

IDBP-24636.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KIF22

Protein Name

kinesin family member 22

Synonyms

A-328A3.2; KID; KNSL4; OBP; OBP-1; OBP-2; SEMDJL2;

Species

Homo sapiens

Ensembl Protein

ENSP00000160827

InnateDB Gene

IDBG-24634 (KIF22)

Protein Structure

UniProt Annotation

Function

Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA.

Subcellular Localization

Nucleus. Cytoplasm, cytoskeleton {ECO:0000305}.

Disease Associations

Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. {ECO:0000269PubMed:22152677, ECO:0000269PubMed:22152678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. {ECO:0000269PubMed:22152677}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	12 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003777	microtubule motor activity
GO:0005524	ATP binding
GO:0008017	microtubule binding

Biological Process

GO:0006281	DNA repair
GO:0007018	microtubule-based movement
GO:0007067	mitotic nuclear division
GO:0007596	blood coagulation
GO:0008152	metabolic process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II

Cellular Component

GO:0000776	kinetochore
GO:0000785	chromatin
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005819	spindle
GO:0005829	cytosol
GO:0005871	kinesin complex
GO:0005874	microtubule
GO:0005925	focal adhesion

Protein Structure and Domains

PDB ID

InterPro

IPR001752 Kinesin, motor domain
IPR003583 Helix-hairpin-helix DNA-binding motif, class 1
IPR010994 RuvA domain 2-like
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00225

PRINTS

PR00380

PIRSF

SMART

SM00129
SM00278

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt