UniProtKB - Q13394 (MB211_HUMAN)
Protein
Putative nucleotidyltransferase MAB21L1
Gene
MAB21L1
Organism
Homo sapiens (Human)
Status
Functioni
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).3 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 73 | Magnesium; catalyticBy similarity | 1 | |
Metal bindingi | 75 | Magnesium; catalyticBy similarity | 1 | |
Binding sitei | 248 | NTPCombined sources1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 23 – 24 | NTPCombined sources1 Publication | 2 | |
Nucleotide bindingi | 63 – 66 | NTPCombined sources1 Publication | 4 | |
Nucleotide bindingi | 252 – 255 | NTPCombined sources1 Publication | 4 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- GTP binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
- nucleotidyltransferase activity Source: UniProtKB-KW
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- camera-type eye development Source: Ensembl
- eye development Source: UniProtKB
- positive regulation of cell population proliferation Source: Ensembl
Keywordsi
Molecular function | Developmental protein, Nucleotidyltransferase, Transferase |
Ligand | ATP-binding, GTP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13394 |
Names & Taxonomyi
Protein namesi | Recommended name: Putative nucleotidyltransferase MAB21L1Curated (EC:2.7.7.-Curated)Alternative name(s): Protein mab-21-like 1Imported |
Gene namesi | ORF Names:Nbla001261 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6757, MAB21L1 |
MIMi | 601280, gene |
neXtProti | NX_Q13394 |
VEuPathDBi | HostDB:ENSG00000180660.7 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cerebellar, ocular, craniofacial, and genital syndrome (COFG)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082959 | 233 | Q → P in COFG; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566189161EnsemblClinVar. | 1 | |
Natural variantiVAR_082960 | 280 – 359 | Missing in COFG. 1 PublicationAdd BLAST | 80 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 51 | R → C: Decreased protein stability. 1 Publication | 1 | |
Mutagenesisi | 247 | R → Q: Decreased protein stability. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 4081 |
MalaCardsi | MAB21L1 |
MIMi | 618479, phenotype |
OpenTargetsi | ENSG00000180660 |
PharmGKBi | PA30516 |
Miscellaneous databases
Pharosi | Q13394, Tbio |
Genetic variation databases
BioMutai | MAB21L1 |
DMDMi | 74739786 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312781 | 1 – 359 | Putative nucleotidyltransferase MAB21L1Add BLAST | 359 |
Proteomic databases
MassIVEi | Q13394 |
PaxDbi | Q13394 |
PeptideAtlasi | Q13394 |
PRIDEi | Q13394 |
ProteomicsDBi | 59364 |
TopDownProteomicsi | Q13394 |
PTM databases
iPTMneti | Q13394 |
PhosphoSitePlusi | Q13394 |
Expressioni
Tissue specificityi
Expressed in brain, cerebellum and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000180660, Expressed in pigmented layer of retina and 142 other tissues |
ExpressionAtlasi | Q13394, baseline and differential |
Genevisiblei | Q13394, HS |
Organism-specific databases
HPAi | ENSG00000180660, Tissue enhanced (brain, skeletal muscle) |
Interactioni
Subunit structurei
Binary interactionsi
Q13394
With | #Exp. | IntAct |
---|---|---|
SIAH1 [Q8IUQ4] | 3 | EBI-10229059,EBI-747107 |
Protein-protein interaction databases
BioGRIDi | 110256, 12 interactors |
IntActi | Q13394, 11 interactors |
STRINGi | 9606.ENSP00000369251 |
Miscellaneous databases
RNActi | Q13394, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13394 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domaini
While it shares structure similarities with CGAS, it also features a number of differences. The crystal structure is in inactive conformation and the enzyme would require a conformational change to be active. The nucleotidyltransferase activity is therefore unclear.1 Publication
Sequence similaritiesi
Belongs to the mab-21 family.Curated
Phylogenomic databases
eggNOGi | KOG3963, Eukaryota |
GeneTreei | ENSGT00980000198515 |
HOGENOMi | CLU_045315_0_0_1 |
InParanoidi | Q13394 |
OMAi | YFLPHVD |
PhylomeDBi | Q13394 |
TreeFami | TF315012 |
Family and domain databases
InterProi | View protein in InterPro IPR024810, Mab-21_dom |
Pfami | View protein in Pfam PF03281, Mab-21, 1 hit |
SMARTi | View protein in SMART SM01265, Mab-21, 1 hit |
i Sequence
Sequence statusi: Complete.
Q13394-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP
60 70 80 90 100
RFISSLNEMD NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL
110 120 130 140 150
KLSDGRKRSM SLWVEFITAS GYLSARKIRS RFQTLVAQAV DKCSYRDVVK
160 170 180 190 200
MVADTSEVKL RIRDRYVVQI TPAFKCTGIW PRSAAHWPLP HIPWPGPNRV
210 220 230 240 250
AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR LQMGGCRKKC
260 270 280 290 300
LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL
310 320 330 340 350
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL
TNPKSLEKL
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 132 | F → L in CAG33701 (Ref. 3) Curated | 1 |
Polymorphismi
A CAG trinucleotide repeat occurs in the 5'-UTR of this gene. This repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality.4 Publications
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037568 | 70 | S → P. Corresponds to variant dbSNP:rs1065316Ensembl. | 1 | |
Natural variantiVAR_082959 | 233 | Q → P in COFG; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566189161EnsemblClinVar. | 1 | |
Natural variantiVAR_082960 | 280 – 359 | Missing in COFG. 1 PublicationAdd BLAST | 80 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U38810 mRNA Translation: AAB47576.1 AB073388 mRNA Translation: BAE45718.1 CR457420 mRNA Translation: CAG33701.1 AL390071 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08547.1 BC028170 mRNA Translation: AAH28170.1 |
CCDSi | CCDS9353.1 |
PIRi | G02221 |
RefSeqi | NP_005575.1, NM_005584.4 |
Genome annotation databases
Ensembli | ENST00000379919; ENSP00000369251; ENSG00000180660 |
GeneIDi | 4081 |
KEGGi | hsa:4081 |
UCSCi | uc032aca.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U38810 mRNA Translation: AAB47576.1 AB073388 mRNA Translation: BAE45718.1 CR457420 mRNA Translation: CAG33701.1 AL390071 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08547.1 BC028170 mRNA Translation: AAH28170.1 |
CCDSi | CCDS9353.1 |
PIRi | G02221 |
RefSeqi | NP_005575.1, NM_005584.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5EOG | X-ray | 3.05 | A/B/C/D/F | 2-359 | [»] | |
5EOM | X-ray | 2.55 | A/B/C/D/E/F/G/H/I/J | 2-359 | [»] | |
SMRi | Q13394 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110256, 12 interactors |
IntActi | Q13394, 11 interactors |
STRINGi | 9606.ENSP00000369251 |
PTM databases
iPTMneti | Q13394 |
PhosphoSitePlusi | Q13394 |
Genetic variation databases
BioMutai | MAB21L1 |
DMDMi | 74739786 |
Proteomic databases
MassIVEi | Q13394 |
PaxDbi | Q13394 |
PeptideAtlasi | Q13394 |
PRIDEi | Q13394 |
ProteomicsDBi | 59364 |
TopDownProteomicsi | Q13394 |
Protocols and materials databases
Antibodypediai | 23045, 64 antibodies |
DNASUi | 4081 |
Genome annotation databases
Ensembli | ENST00000379919; ENSP00000369251; ENSG00000180660 |
GeneIDi | 4081 |
KEGGi | hsa:4081 |
UCSCi | uc032aca.2, human |
Organism-specific databases
CTDi | 4081 |
DisGeNETi | 4081 |
GeneCardsi | MAB21L1 |
HGNCi | HGNC:6757, MAB21L1 |
HPAi | ENSG00000180660, Tissue enhanced (brain, skeletal muscle) |
MalaCardsi | MAB21L1 |
MIMi | 601280, gene 618479, phenotype |
neXtProti | NX_Q13394 |
OpenTargetsi | ENSG00000180660 |
PharmGKBi | PA30516 |
VEuPathDBi | HostDB:ENSG00000180660.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3963, Eukaryota |
GeneTreei | ENSGT00980000198515 |
HOGENOMi | CLU_045315_0_0_1 |
InParanoidi | Q13394 |
OMAi | YFLPHVD |
PhylomeDBi | Q13394 |
TreeFami | TF315012 |
Enzyme and pathway databases
PathwayCommonsi | Q13394 |
Miscellaneous databases
BioGRID-ORCSi | 4081, 7 hits in 877 CRISPR screens |
ChiTaRSi | MAB21L1, human |
GenomeRNAii | 4081 |
Pharosi | Q13394, Tbio |
PROi | PR:Q13394 |
RNActi | Q13394, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180660, Expressed in pigmented layer of retina and 142 other tissues |
ExpressionAtlasi | Q13394, baseline and differential |
Genevisiblei | Q13394, HS |
Family and domain databases
InterProi | View protein in InterPro IPR024810, Mab-21_dom |
Pfami | View protein in Pfam PF03281, Mab-21, 1 hit |
SMARTi | View protein in SMART SM01265, Mab-21, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MB211_HUMAN | |
Accessioni | Q13394Primary (citable) accession number: Q13394 Secondary accession number(s): Q6I9T5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | November 1, 1996 | |
Last modified: | February 10, 2021 | |
This is version 143 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families