KNSTRN
entrez
90417
canonical
uniprot
Q9Y448
canonical
ensembl
ENSG00000128944
resolver
ensp
ENSP00000249776
resolver
ensp
ENSP00000391233
resolver
ensp
ENSP00000393001
resolver
genesymbol
KNSTRN
resolver
genesymbol_syn
C15orf23
resolver
genesymbol_syn
SKAP
resolver
genesymbol_syn
TRAF4AF1
resolver
hgnc
HGNC:30767
resolver
uniprot
B4DXA7
resolver
uniprot
Q147U5
resolver
uniprot
Q32Q57
resolver
uniprot
Q5ISJ0
resolver
uniprot
Q6P2S5
resolver
uniprot
Q6PJM0
resolver
uniprot
Q86XB4
resolver
uniprot_entry
SKAP_HUMAN
resolver
uniprot_sec
B4DXA7
resolver
uniprot_sec
Q147U5
resolver
uniprot_sec
Q32Q57
resolver
uniprot_sec
Q5ISJ0
resolver
uniprot_sec
Q6P2S5
resolver
uniprot_sec
Q6PJM0
resolver
uniprot_sec
Q86XB4
resolver
amino_acid_sequence
MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEKDCGQDRRAPGVQPCRLVTMTSVVKTVYSLQPPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGYKPLSKQKSEEELKDKNQLLEAVNKQLHQKLTETQGELKDLTQKVELLEKFRDNCLAILESKGLDPALGSETLASRQESTTDHMDSMLLLETLQEELKLFNETAKKQMEELQALKVKLEMKEERVRFLEQQTLCNNQVNDLTTALKEMEQLLEM
uniprot
proteins
disease_involvement
DISEASE: Roifman-Chitayat syndrome (ROCHIS) [MIM:613328]: An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. {ECO:0000269|PubMed:29180244}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Caused by the simultaneous occurrence of homozygous mutations in PIK3CD and KNSTRN. {ECO:0000269|PubMed:29180244}.; DISEASE: Note=Cutaneous squamous cell carcinomas (SCC): A malignancy of the skin. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Disease susceptibility is associated with variants affecting the gene represented in this entry. Variant Phe-24 appears specific for UV-associated malignancies (PubMed:25194279). {ECO:0000269|PubMed:25194279}.
uniprot
proteins
function
FUNCTION: Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidence (PubMed:24718257). {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123, ECO:0000305|PubMed:24718257}.
uniprot
proteins
mass_dalton
35438
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15855057
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19667759
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21402792
uniprot
proteins
pubmed
22110139
uniprot
proteins
pubmed
22965910
uniprot
proteins
pubmed
23035123
uniprot
proteins
pubmed
24718257
uniprot
proteins
pubmed
25194279
uniprot
proteins
pubmed
29180244
uniprot
proteins
sequence_length
316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24718257}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19667759}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000269|PubMed:29180244}. Note=Colocalizes with microtubules around centrosomes in prophase and with the mitotic spindle at prometaphase and metaphase. From late prometaphase to anaphase, is highly concentrated on kinetochores. Located at the kinetochore-microtubule interface. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends (PubMed:23035123). {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123}.
uniprot
proteins