PNLDC1
entrez
154197
canonical
uniprot
Q8NA58
canonical
ensembl
ENSG00000146453
resolver
ensp
ENSP00000376007
resolver
ensp
ENSP00000476448
resolver
genesymbol
PNLDC1
resolver
hgnc
HGNC:21185
resolver
uniprot
Q5TAP7
resolver
uniprot
Q8N7X5
resolver
uniprot_entry
PNDC1_HUMAN
resolver
uniprot_sec
Q5TAP7
resolver
uniprot_sec
Q8N7X5
resolver
amino_acid_sequence
MFCTRGLLFFAFLAGLDIEFTGLRSNLSGPQQISLFDLPSEWYLKTRQSVQQFTVCQIGLSVFSAIEGEANKYIAHSCNFYLFPTTFGILDSEFSFQASSVQFLNQYGFNYNKFLKNGIPYMNEEQEKKIRHDILTGNWRVRSSPDKDQIKVVIDEVTRWLELAKEGDWMTLPGITGFQAFEVQLVLRQALPNIWTVLKDEGVVVKKVSKQHRWYLQNTSCDRESCWKENILLSARGFSVFFQMLVKAQKPLVGHNMMMDLLHLHEKFFRPLPESYDQFKQNIHSLFPVLIDTKSVTKDIWKEMNFPRVSNLSEVYEVLNSDLNPTKNSGPEIVHASRCEKYVETKCPHEAAYDAFLCGSVLLKVAHLLLQKIYHIDPVPESSFPQYLDVLAPYVNQVNLIRAGVPKINFSGPDYPSIRPPILILSVKRWPGVSEQQVYHKFQNLCKFDVRRLTRSQFLLLTNKFKDARNILKEYRDHPTLCISLYRYWRHSPNVNCLLQVCGIVTAWALLAFILGRSGT
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 57 (SPGF57) [MIM:619528]: An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to error-prone meiosis and spermatogenic arrest at the late pachytene stage. {ECO:0000269|PubMed:34347949}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.13.4
uniprot
proteins
function
FUNCTION: 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails (PubMed:27515512). Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development (PubMed:27515512). May act as a regulator of multipotency in embryonic stem cells (By similarity). Is a critical factor for proper spermatogenesis, involved in pre-piRNAs processing to generate mature piRNAs (PubMed:34347949). {ECO:0000250|UniProtKB:B2RXZ1, ECO:0000269|PubMed:27515512, ECO:0000269|PubMed:34347949}.
uniprot
proteins
mass_dalton
60124
uniprot
proteins
protein_family
CAF1 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27515512
uniprot
proteins
pubmed
34347949
uniprot
proteins
sequence_length
520
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27515512}; Single-pass membrane protein {ECO:0000305}. Note=Localizes mainly in the endoplasmic reticulum (PubMed:27515512). {ECO:0000269|PubMed:27515512}.
uniprot
proteins
transmembrane_region
TRANSMEM 495..515; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins