Search by BoMiProt ID - Bomi2395


Primary Information

BoMiProt ID Bomi2395
Protein Name Protein mab-21-like 1
Organism Bos taurus
Uniprot IDA4FV14
Milk FractionMFGM, Exosome
Ref Sequence ID NP_001091579.1
Aminoacid Length 359
Molecular Weight 40956
FASTA Sequence Download
Gene Name MAB21L1
Gene ID 540081
Protein Existence Status Reviewed: Experimental evidence at transcript level

Secondary Information

Protein Function Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins.It shows essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.
Biochemical Properties Protein modelling of Mab21L1 and Mab21L2 in vertebrates shows 94% identical amino acid sequences, raising the possibility of partially redundant gene function
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
Predicted Disorder Regions NA
DisProt Annotation
TM Helix Prediction No TM helices
Bibliography 1.Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. PMID: 30487245; PMCID: PMC6581149. 2.Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.de Oliveira Mann CC, Kiefersauer R, Witte G, Hopfner KP.Sci Rep. 2016 Jun 8; 6():27498.