MAB21L1
entrez
4081
canonical
uniprot
Q13394
canonical
ensembl
ENSG00000180660
resolver
ensp
ENSP00000369251
resolver
ensp
ENSP00000516753
resolver
ensp
ENSP00000621577
resolver
enst
ENST00000379919
resolver
enst
ENST00000707125
resolver
enst
ENST00000951518
resolver
genesymbol
MAB21L1
resolver
genesymbol_syn
CAGR1
resolver
hgnc
HGNC:6757
resolver
uniprot
B2R805
resolver
uniprot
F1T0A2
resolver
uniprot
Q6I9T5
resolver
uniprot_entry
B2R805_HUMAN
resolver
uniprot_entry
F1T0A2_HUMAN
resolver
uniprot_entry
MB211_HUMAN
resolver
uniprot_sec
Q6I9T5
resolver
amino_acid_sequence
MIAAQAKLVYHLNKYYNEKCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLNEMDNRYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAVDKCSYRDVVKMVADTSEVKLRIRDRYVVQITPAFKCTGIWPRSAAHWPLPHIPWPGPNRVAEVKAEGFNLLSKECHSLAGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSILKTLRDRHLELPGQPLNNYHMKTLVSYECEKHPRESDWDESCLGDRLNGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALENAAKQTWRLAREILTNPKSLEKL
uniprot
proteins
disease_involvement
DISEASE: Cerebellar, ocular, craniofacial, and genital syndrome (COFG) [MIM:618479]: An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. {ECO:0000269|PubMed:27103078, ECO:0000269|PubMed:30487245}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.-
uniprot
proteins
function
FUNCTION: Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801). {ECO:0000269|PubMed:27103078, ECO:0000269|PubMed:27271801, ECO:0000269|PubMed:30487245}.
uniprot
proteins
mass_dalton
40956
uniprot
proteins
mutagenesis
MUTAGEN 51; /note="R->C: Decreased protein stability."; /evidence="ECO:0000269|PubMed:27271801"; MUTAGEN 247; /note="R->Q: Decreased protein stability."; /evidence="ECO:0000269|PubMed:27271801
uniprot
proteins
protein_family
Mab-21 family
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15526290
uniprot
proteins
pubmed
27103078
uniprot
proteins
pubmed
27271801
uniprot
proteins
pubmed
30487245
uniprot
proteins
pubmed
8733127
uniprot
proteins
pubmed
9152839
uniprot
proteins
pubmed
9950369
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O70299}.
uniprot
proteins