KASH5
entrez
147872
canonical
uniprot
Q8N6L0
canonical
ensembl
ENSG00000161609
resolver
ensp
ENSP00000404220
resolver
ensp
ENSP00000470819
resolver
enst
ENST00000447857
resolver
genesymbol
KASH5
resolver
genesymbol_syn
CCDC155
resolver
hgnc
HGNC:26520
resolver
uniprot
Q96MC3
resolver
uniprot_entry
KASH5_HUMAN
resolver
uniprot_sec
Q96MC3
resolver
amino_acid_sequence
MDLPEGPVGGPTAEMYLRERPEEARLGMPVSLEEQILNSTFEACDPQRTGTVAVAQVLAYLEAVTGQGPQDARLQTLANSLDPNGEGPKATVDLDTFLVVMRDWIAACQLHGGLELEEETAFQGALTSRQLPSGCPEAEEPANLESFGGEDPRPELQATADLLSSLEDLELSNRRLVGENAKLQRSMETAEEGSARLGEEILALRKQLHSTQQALQFAKAMDEELEDLKTLARSLEEQNRSLLAQARQAEKEQQHLVAEMETLQEENGKLLAERDGVKKRSQELAMEKDTLKRQLFECEHLICQRDTILSERTRDVESLAQTLEEYRVTTQELRLEISRLEEQLSQTYEGPDELPEGAQLRRVGWTELLPPSLGLEIEAIRQKQEVATADLSNPLCGVWQWEEVIHETSEETEFPSEAPAGGQRNFQGEPAHPEEGRKEPSMWLTRREEEEDAESQVTADLPVPLGAPRPGDIPENPPERPARRELQQALVPVMKKLVPVRRRAWGQLCLPPQRLRVTRHPLIPAPVLGLLLLLLLSVLLLGPSPPPTWPHLQLCYLQPPPV
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 88 (SPGF88) [MIM:620547]: An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia due to primary spermatogenic arrest. {ECO:0000269|PubMed:29790874, ECO:0000269|PubMed:35587281, ECO:0000269|PubMed:35674372, ECO:0000269|PubMed:36864840}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Premature ovarian failure 22 (POF22) [MIM:620548]: A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF22 is an autosomal recessive form characterized by infertility, and small to atrophic ovaries and no visible ovarian follicles. {ECO:0000269|PubMed:35587281, ECO:0000269|PubMed:35708642, ECO:0000269|PubMed:36864840}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis (PubMed:35587281). Required for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis (PubMed:35587281). Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation. {ECO:0000250|UniProtKB:Q80VJ8, ECO:0000269|PubMed:35587281}.
uniprot
proteins
mass_dalton
62783
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
29790874
uniprot
proteins
pubmed
35587281
uniprot
proteins
pubmed
35674372
uniprot
proteins
pubmed
35708642
uniprot
proteins
pubmed
36864840
uniprot
proteins
sequence_length
562
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000250|UniProtKB:Q80VJ8, ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus {ECO:0000250|UniProtKB:Q80VJ8}. Chromosome, telomere {ECO:0000250|UniProtKB:Q80VJ8}. Nucleus envelope {ECO:0000269|PubMed:35587281}. Note=Localized exclusively at telomeres from the leptotene to diplotene stages. Colocalizes with SUN2 at sites of telomere attachment in meiocytes. At oocyte MI stage localized around the spindle, at MII stage localized to the spindle poles. {ECO:0000250|UniProtKB:Q80VJ8}.
uniprot
proteins
transmembrane_region
TRANSMEM 522..542; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins