KIF22
entrez
3835
canonical
uniprot
Q14807
canonical
ensembl
ENSG00000079616
resolver
ensp
ENSP00000160827
resolver
ensp
ENSP00000454957
resolver
ensp
ENSP00000509109
resolver
ensp
ENSP00000509977
resolver
ensp
ENSP00000510465
resolver
ensp
ENSP00000759090
resolver
enst
ENST00000685526
resolver
enst
ENST00000689089
resolver
genesymbol
KIF22
resolver
genesymbol_syn
KID
resolver
genesymbol_syn
KNSL4
resolver
hgnc
HGNC:6391
resolver
uniprot
A0A8I5QL17
resolver
uniprot
B2R5M0
resolver
uniprot
B7Z265
resolver
uniprot
B7Z9T5
resolver
uniprot
O60845
resolver
uniprot
O94814
resolver
uniprot
Q53F58
resolver
uniprot
Q9BT46
resolver
uniprot_entry
A0A8I5QL17_HUMAN
resolver
uniprot_entry
B7Z9T5_HUMAN
resolver
uniprot_entry
KIF22_HUMAN
resolver
uniprot_sec
B2R5M0
resolver
uniprot_sec
B7Z265
resolver
uniprot_sec
O60845
resolver
uniprot_sec
O94814
resolver
uniprot_sec
Q53F58
resolver
uniprot_sec
Q9BT46
resolver
amino_acid_sequence
MAAGGSTQQRRREMAAASAAAISGAGRCRLSKIGATRRPPPARVRVAVRLRPFVDGTAGASDPPCVRGMDSCSLEIANWRNHQETLKYQFDAFYGERSTQQDIYAGSVQPILRHLLEGQNASVLAYGPTGAGKTHTMLGSPEQPGVIPRALMDLLQLTREEGAEGRPWALSVTMSYLEIYQEKVLDLLDPASGDLVIREDCRGNILIPGLSQKPISSFADFERHFLPASRNRTVGATRLNQRSSRSHAVLLVKVDQRERLAPFRQREGKLYLIDLAGSEDNRRTGNKGLRLKESGAINTSLFVLGKVVDALNQGLPRVPYRDSKLTRLLQDSLGGSAHSILIANIAPERRFYLDTVSALNFAARSKEVINRPFTNESLQPHALGPVKLSQKELLGPPEAKRARGPEEEEIGSPEPMAAPASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQGAPLLSTPKRERMVLMKTVEEKDLEIERLKTKQKELEAKMLAQKAEEKENHCPTMLRPLSHRTVTGAKPLKKAVVMPLQLIQEQAASPNAEIHILKNKGRKRKLESLDALEPEEKAEDCWELQISPELLAHGRQKILDLLNEGSARDLRSLQRIGPKKAQLIVGWRELHGPFSQVEDLERVEGITGKQMESFLKANILGLAAGQRCGAS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22152677, ECO:0000269|PubMed:22152678}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205). {ECO:0000250|UniProtKB:Q9I869, ECO:0000269|PubMed:25743205}.
uniprot
proteins
mass_dalton
73262
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation. {ECO:0000269|PubMed:11146551}.
uniprot
proteins
protein_family
Kinesin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
11146551
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18485706
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22152677
uniprot
proteins
pubmed
22152678
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25743205
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
8599929
uniprot
proteins
pubmed
9790757
uniprot
proteins
sequence_length
665
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8599929}. Cytoplasm, cytoskeleton {ECO:0000305}.
uniprot
proteins