NUP210L
entrez
91181
canonical
uniprot
Q5VU65
canonical
ensembl
ENSG00000143552
resolver
ensp
ENSP00000271854
resolver
ensp
ENSP00000357547
resolver
genesymbol
NUP210L
resolver
hgnc
HGNC:29915
resolver
uniprot
E7EP56
resolver
uniprot
Q5T4L7
resolver
uniprot
Q6ZRN1
resolver
uniprot
Q6ZRT4
resolver
uniprot
Q6ZU81
resolver
uniprot
Q8NDI6
resolver
uniprot
Q9UF31
resolver
uniprot_entry
P210L_HUMAN
resolver
uniprot_sec
E7EP56
resolver
uniprot_sec
Q5T4L7
resolver
uniprot_sec
Q6ZRN1
resolver
uniprot_sec
Q6ZRT4
resolver
uniprot_sec
Q6ZU81
resolver
uniprot_sec
Q8NDI6
resolver
uniprot_sec
Q9UF31
resolver
amino_acid_sequence
MTGCPASSRRRGFGLFFFLRLHRLLLLFLVLRGTLANKLNVPQVLLPFGREPGRVPFLLEAQRGCYTWHSTHHDAVTVEPLYENGTLCSQKAVLIAESTQPIRLSSIILAREIVTDHELRCDVKVDVINSIEIVSRARELYVDDSPLELMVRALDAEGNTFSSLAGMMFEWSIAQDNESAREELSSKIRILKYSEAEYAPPIYIAEMEKEEKQGDVILVSGIRTGAAVVKVRIHEPFYKKVAAALIRLLVLENIFLIPSHDIYLLVGTYIKYQVAKMVQGRVTEVKFPLEHYILELQDHRVALNGSHSEKVAILDDKTAMVTASQLGQTNLVFVHKNVHMRSVSGLPNCTIYVVEPGFLGFTVQPGNRWSLEVGQVYVITVDVFDKSSTKVYISDNLRITYDFPKEYFEEQLTTVNGSYHIVKALKDGVVVINASLTSIIYQNKDIQPIKFLIKHQQEVKIYFPIMLTPKFLAFPHHPMGMLYRYKVQVEGGSGNFTWTSSNETVVIVTTKGVVTAGQVRGNSTVLARDVQNPFRYGEIKIHVLKLNKMELLPFHADVEIGQIIEIPIAMYHINKETKEAMAFTDCSHLSLDLNMDKQGVFTLLKEGIQRPGPMHCSSTHIAAKSLGHTLVTVSVNECDKYLESSATFAAYEPLKALNPVEVALVTWQSVKEMVFEGGPRPWILEPSRFFLELNAEKTEKIGIAQVWLPSKRKQNQYIYRIQCLDLGEQVLTFRIGNHPGVLNPSPAVEVLQVRFICAHPASMSVTPVYKVPAGAQPCPLPQHNKWLIPVSRLRDTVLELAVFDQHRRKFDNFSSLMLEWKSSNETLAHFEDYKSVEMVAKDDGSGQTRLHGHQILKVHQIKGTVLIGVNFVGYSEKKSPKEISNLPRSVDVELLLVDDVTVVPENATIYNHPDVKETFSLVEGSGYFLVNSSEQGVVTITYMEAESSVELVPLHPGFFTLEVYDLCLAFLGPATAHLRVSDIQELELDLIDKVEIDKTVLVTVRVLGSSKRPFQNKYFRNMELKLQLASAIVTLTPMEQQDEYSENYILRATTIGQTTLVAIAKDKMGRKYTSTPRHIEVFPPFRLLPEKMTLIPMNMMQVMSEGGPQPQSIVHFSISNQTVAVVNRRGQVTGKIVGTAVVHGTIQTVNEDTGKVIVFSQDEVQIEVVQLRAVRILAAATRLITATKMPVYVMGVTSTQTPFSFSNANPGLTFHWSMSKRDVLDLVPRHSEVFLQLPVEHNFAMVVHTKAAGRTSIKVTVHCMNSSSGQFEGNLLELSDEVQILVFEKLQLFYPECQPEQILMPINSQLKLHTNREGAAFVSSRVLKCFPNSSVIEEDGEGLLKAGSIAGTAVLEVTSIEPFGVNQTTITGVQVAPVTYLRVSSQPKLYTAQGRTLSAFPLGMSLTFTVQFYNSIGEKFHTHNTQLYLALNRDDLLHIGPGNKNYTYMAQAVNRGLTLVGLWDRRHPGMADYIPVAVEHAIEPDTKLTFVGDIICFSTHLVSQHGEPGIWMISANNILQTDIVTGVGVARSPGTAMIFHDIPGVVKTYREVVVNASSRLMLSYDLKTYLTNTLNSTVFKLFITTGRNGVNLKGFCTPNQALAITKVLLPATLMLCHVQFSNTLLDIPASKVFQVHSDFSMEKGVYVCIIKVRPQSEELLQALSVADTSVYGWATLVSERSKNGMQRILIPFIPAFYINQSELVLSHKQDIGEIRVLGVDRVLRKLEVISSSPVLVVAGHSHSPLTPGLAIYSVRVVNFTSFQQMASPVFINISCVLTSQSEAVVVRAMKDKLGADHCEDSAILKRFTGSYQILLLTLFAVLASTASIFLAYNAFLNKIQTVPVVYVPTLGTPQPGFFNSTSSPPHFMSLQPPLAQSRLQHWLWSIRH
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 97 (SPGF97) [MIM:621057]: An autosomal recessive, male infertility disorder characterized by oligoasthenoteratozoospermia. Infertile subjects have low sperm count, poor motility and highly abnormal spermatozoa with strikingly large heads due to highly uncondensed nuclear sperm DNA. {ECO:0000269|PubMed:33332558}. Note=The disease may be caused by variants affecting the gene represented in this entry. In a patient with spermatogenic failure, a homozygous loss-of-function variant affecting a splice site in the NUP210L gene has been identified (PubMed:33332558). However, NUP210L knockout male mice show only mild anomalies of sperm head morphology and decreased motility and are fertile (PubMed:38129135). Re-examination of the patient allowed the identification of an additional variant in the NUP153 gene (p.Pro485Leu). It has been proposed that the increased phenotypic severity associated with NUP210L loss in the patient was due to the presence of this additional variant. Although interspecies divergence in the nuclear pore function of NUP210L cannot be ruled out (PubMed:38129135). {ECO:0000269|PubMed:33332558, ECO:0000269|PubMed:38129135}.
uniprot
proteins
mass_dalton
210605
uniprot
proteins
protein_family
NUP210 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
33332558
uniprot
proteins
pubmed
38129135
uniprot
proteins
sequence_length
1888
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:38129135}; Single-pass membrane protein {ECO:0000305}. Note=In elongating spermatids, localizes to the nuclear periphery and becomes gradually restricted to the posterior pole of the nucleus (PubMed:38129135). In round spermatids, localization differs between human and mouse; in human, it is restricted to the nuclear periphery except under the acrosome, while in mouse, it is nucleoplasmic (PubMed:38129135). {ECO:0000269|PubMed:38129135}.
uniprot
proteins
transmembrane_region
TRANSMEM 1813..1833; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins