MNS1
entrez
55329
canonical
uniprot
Q8NEH6
canonical
ensembl
ENSG00000138587
resolver
ensp
ENSP00000260453
resolver
ensp
ENSP00000546579
resolver
enst
ENST00000260453
resolver
enst
ENST00000876520
resolver
genesymbol
MNS1
resolver
hgnc
HGNC:29636
resolver
uniprot
B3KQ70
resolver
uniprot
Q8IYT6
resolver
uniprot
Q9NUP4
resolver
uniprot_entry
B3KQ70_HUMAN
resolver
uniprot_entry
MNS1_HUMAN
resolver
uniprot_sec
Q8IYT6
resolver
uniprot_sec
Q9NUP4
resolver
amino_acid_sequence
MGSKRRNLSCSERHQKLVDENYCKKLHVQALKNVNSQIRNQMVQNENDNRVQRKQFLRLLQNEQFELDMEEAIQKAEENKRLKELQLKQEEKLAMELAKLKHESLKDEKMRQQVRENSIELRELEKKLKAAYMNKERAAQIAEKDAIKYEQMKRDAEIAKTMMEEHKRIIKEENAAEDKRNKAKAQYYLDLEKQLEEQEKKKQEAYEQLLKEKLMIDEIVRKIYEEDQLEKQQKLEKMNAMRRYIEEFQKEQALWRKKKREEMEEENRKIIEFANMQQQREEDRMAKVQENEEKRLQLQNALTQKLEEMLRQREDLEQVRQELYQEEQAEIYKSKLKEEAEKKLRKQKEMKQDFEEQMALKELVLQAAKEEEENFRKTMLAKFAEDDRIELMNAQKQRMKQLEHRRAVEKLIEERRQQFLADKQRELEEWQLQQRRQGFINAIIEEERLKLLKEHATNLLGYLPKGVFKKEDDIDLLGEEFRKVYQQRSEICEEK
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 9, autosomal, with male infertility (HTX9) [MIM:618948]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. {ECO:0000269|PubMed:30148830, ECO:0000269|PubMed:31534215}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. Required for sperm flagella assembly (By similarity). May play a role in the assembly and function of the outer dynein arm-docking complex (ODA-DC). ODA-DC mediates outer dynein arms (ODA) binding onto the axonemal doublet microtubules (PubMed:30148830). {ECO:0000250|UniProtKB:Q61884, ECO:0000269|PubMed:30148830, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
60571
uniprot
proteins
protein_family
MNS1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30148830
uniprot
proteins
pubmed
31534215
uniprot
proteins
pubmed
36191189
uniprot
proteins
sequence_length
495
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61884}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:30148830, ECO:0000269|PubMed:36191189}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:30148830}. Note=Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme. {ECO:0000250|UniProtKB:Q2KIQ2}.
uniprot
proteins