Human Gene KIF22 (ENST00000160827.9) from GENCODE V44
Description: Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA. (from RefSeq NM_007317) RefSeq Summary (NM_007317): The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Gencode Transcript: ENST00000160827.9 Gencode Gene: ENSG00000079616.14 Transcript (Including UTRs) Position: hg38 chr16:29,790,751-29,805,384 Size: 14,634 Total Exon Count: 14 Strand: + Coding Region Position: hg38 chr16:29,790,760-29,805,310 Size: 14,551 Coding Exon Count: 14
ID:KIF22_HUMAN DESCRIPTION: RecName: Full=Kinesin-like protein KIF22; AltName: Full=Kinesin-like DNA-binding protein; AltName: Full=Kinesin-like protein 4; FUNCTION: Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. SUBUNIT: Interacts with FAM83D. SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton (Probable). TISSUE SPECIFICITY: Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. PTM: Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation (Probable). PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 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. SIMILARITY: Belongs to the kinesin-like protein family. SIMILARITY: Contains 1 kinesin-motor domain. SEQUENCE CAUTION: Sequence=AAC08709.1; Type=Erroneous gene model prediction; Sequence=EAW80007.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14807
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000278 mitotic cell cycle GO:0006281 DNA repair GO:0006890 retrograde vesicle-mediated transport, Golgi to ER GO:0007018 microtubule-based movement GO:0007062 sister chromatid cohesion GO:0007080 mitotic metaphase plate congression GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0051310 metaphase plate congression
AK312234 - Homo sapiens cDNA, FLJ92525, highly similar to Homo sapiens kinesin family member 22 (KIF22), mRNA. AK223431 - Homo sapiens mRNA for kinesin family member 22 variant, clone: FCC111B02. AK297893 - Homo sapiens cDNA FLJ51003 complete cds, highly similar to Kinesin-like protein KIF22. AB017430 - Homo sapiens mRNA for kinesin-like DNA binding protein, complete cds. BC004352 - Homo sapiens kinesin family member 22, mRNA (cDNA clone MGC:1573 IMAGE:3535435), complete cds. AK316389 - Homo sapiens cDNA, FLJ79288 complete cds, highly similar to Kinesin-like protein KIF22. BC028155 - Homo sapiens kinesin family member 22, mRNA (cDNA clone MGC:40049 IMAGE:5241557), complete cds. KJ891519 - Synthetic construct Homo sapiens clone ccsbBroadEn_00913 KIF22 gene, encodes complete protein. BT007259 - Homo sapiens kinesin-like 4 mRNA, complete cds. DQ890771 - Synthetic construct clone IMAGE:100003401; FLH165825.01X; RZPDo839H03160D kinesin family member 22 (KIF22) gene, encodes complete protein. DQ893652 - Synthetic construct clone IMAGE:100006282; FLH188063.01X; RZPDo839G01150D kinesin family member 22 (KIF22) gene, encodes complete protein. DQ893932 - Synthetic construct Homo sapiens clone IMAGE:100008392; FLH165823.01L; RZPDo839H03159D kinesin family member 22 (KIF22) gene, encodes complete protein. DQ895829 - Synthetic construct Homo sapiens clone IMAGE:100010289; FLH188059.01L; RZPDo839G01149D kinesin family member 22 (KIF22) gene, encodes complete protein. AK316050 - Homo sapiens cDNA, FLJ78949 complete cds, highly similar to Kinesin-like protein KIF22. AK294380 - Homo sapiens cDNA FLJ53835 complete cds, highly similar to Kinesin-like protein KIF22. L29096 - Homo sapiens oriP binding protein (OBP-2) mRNA, complete cds. L29095 - Homo sapiens oriP binding protein (OBP-1) mRNA, 3' end.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q14807 (Reactome details) participates in the following event(s):
US Server
