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Aliases for MAB21L1 Gene

Aliases for MAB21L1 Gene

  • Mab-21 Like 1 2 3 5
  • CAGR1 3 4
  • Putative Nucleotidyltransferase MAB21L1 3
  • Mab-21 (C. Elegans)-Like 1 2
  • Mab-21-Like 1 (C. Elegans) 2
  • Mab-21-Like Protein 1 3
  • Protein Mab-21-Like 1 4
  • EC 2.7.7.- 4
  • Nbla00126 3

External Ids for MAB21L1 Gene

Previous GeneCards Identifiers for MAB21L1 Gene

  • GC13M034035
  • GC13M030034
  • GC13M034984
  • GC13M033846
  • GC13M034946
  • GC13M036048
  • GC13M016860

Summaries for MAB21L1 Gene

Entrez Gene Summary for MAB21L1 Gene

  • This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

GeneCards Summary for MAB21L1 Gene

MAB21L1 (Mab-21 Like 1) is a Protein Coding gene. Diseases associated with MAB21L1 include Neural Tube Defects. An important paralog of this gene is MAB21L2.

UniProtKB/Swiss-Prot for MAB21L1 Gene

  • Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAB21L1 Gene

Genomics for MAB21L1 Gene

Regulatory Elements for MAB21L1 Gene

Enhancers for MAB21L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G035952 1.2 Ensembl ENCODE dbSUPER 5.2 -477.0 -477023 2.8 ELK4 SRF CTCF ZNF654 RFX1 ZNF10 EP300 RAD21 FOXA1 ELK1 MAB21L1 LOC105370163 GC13P036065
GH13G035978 1.2 Ensembl ENCODE dbSUPER 4.5 -502.6 -502597 2.4 CTCF MXI1 SIN3A RAD21 GATA3 ZNF143 SMC3 FOS MAFK ZNF654 RNU6-71P DCLK1 MAB21L1 GC13P036065 LOC105370163
GH13G035926 1 Ensembl ENCODE 4.4 -450.2 -450197 2.3 ZBTB21 CEBPG HIC1 ZBTB48 NFYB PATZ1 FOS ZNF639 NR2F1 GFI1B MAB21L1 LOC105370163 GC13P036065
GH13G035957 0.8 ENCODE dbSUPER 4.4 -480.4 -480443 1.2 JUND CBX8 GATA2 RNF2 MYC NR2C2 MAB21L1 PHBP13 LOC105370163 GC13P036065
GH13G035922 0.6 ENCODE 5.3 -446.4 -446444 1.7 ZNF639 ZNF398 ZIC2 ZFHX2 JUND MYNN FOS SP7 EGR2 TCF7L2 MAB21L1 LOC105370163 GC13P036065
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAB21L1 on UCSC Golden Path with GeneCards custom track

Promoters for MAB21L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061186 1708 2200 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 GLIS2 ZNF366 ZSCAN5C REST ZFP69B

Genomic Location for MAB21L1 Gene

Chromosome:
13
Start:
35,473,789 bp from pter
End:
35,477,209 bp from pter
Size:
3,421 bases
Orientation:
Minus strand

Genomic View for MAB21L1 Gene

Genes around MAB21L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAB21L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAB21L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAB21L1 Gene

Proteins for MAB21L1 Gene

  • Protein details for MAB21L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13394-MB211_HUMAN
    Recommended name:
    Putative nucleotidyltransferase MAB21L1
    Protein Accession:
    Q13394
    Secondary Accessions:
    • Q6I9T5

    Protein attributes for MAB21L1 Gene

    Size:
    359 amino acids
    Molecular mass:
    40956 Da
    Quaternary structure:
    • Monomer (PubMed:27271801). Homodecamer; composed of 2 back to back homopentamers (PubMed:27271801). The protein may exist as monomer in solution and oiligomerizes upon ligand binding (PubMed:27271801).

    Three dimensional structures from OCA and Proteopedia for MAB21L1 Gene

neXtProt entry for MAB21L1 Gene

Post-translational modifications for MAB21L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAB21L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAB21L1 Gene

Domains & Families for MAB21L1 Gene

Protein Domains for MAB21L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAB21L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13394

UniProtKB/Swiss-Prot:

MB211_HUMAN :
  • While it shares structure similarities with MB21D1/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.
  • Belongs to the mab-21 family.
Domain:
  • While it shares structure similarities with MB21D1/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.
Family:
  • Belongs to the mab-21 family.
genes like me logo Genes that share domains with MAB21L1: view

No data available for Gene Families for MAB21L1 Gene

Function for MAB21L1 Gene

Molecular function for MAB21L1 Gene

GENATLAS Biochemistry:
originally detected in a retina cDNA library,highly expressed in the cerebellum,homolog to the C elegans cell fate determining gene mab-21,with a highly polymorphic CAG repeat(from 5 to 31 triplets),transmitted unstably between generation,exhibiting somatic mosaicism,but not correlated to a clinical phenotype
UniProtKB/Swiss-Prot Function:
Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).

Enzyme Numbers (IUBMB) for MAB21L1 Gene

Gene Ontology (GO) - Molecular Function for MAB21L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with MAB21L1: view
genes like me logo Genes that share phenotypes with MAB21L1: view

Animal Models for MAB21L1 Gene

MGI Knock Outs for MAB21L1:

Animal Model Products

CRISPR Products

miRNA for MAB21L1 Gene

miRTarBase miRNAs that target MAB21L1

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAB21L1 Gene

Localization for MAB21L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAB21L1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAB21L1 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MAB21L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MAB21L1: view

Pathways & Interactions for MAB21L1 Gene

SuperPathways for MAB21L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAB21L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0009653 anatomical structure morphogenesis TAS 8733127
GO:0043010 camera-type eye development IEA --
genes like me logo Genes that share ontologies with MAB21L1: view

No data available for Pathways by source and SIGNOR curated interactions for MAB21L1 Gene

Drugs & Compounds for MAB21L1 Gene

No Compound Related Data Available

Transcripts for MAB21L1 Gene

mRNA/cDNA for MAB21L1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAB21L1 Gene

Mab-21-like 1 (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAB21L1 Gene

No ASD Table

Relevant External Links for MAB21L1 Gene

GeneLoc Exon Structure for
MAB21L1
ECgene alternative splicing isoforms for
MAB21L1

Expression for MAB21L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAB21L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAB21L1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x15.4) and Brain - Cerebellum (x13.1).

Protein differential expression in normal tissues from HIPED for MAB21L1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MAB21L1 Gene



Protein tissue co-expression partners for MAB21L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAB21L1 Gene:

MAB21L1

SOURCE GeneReport for Unigene cluster for MAB21L1 Gene:

Hs.584776

mRNA Expression by UniProt/SwissProt for MAB21L1 Gene:

Q13394-MB211_HUMAN
Tissue specificity: Expressed in brain, cerebellum and skeletal muscle.

Evidence on tissue expression from TISSUES for MAB21L1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with MAB21L1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAB21L1 Gene

Orthologs for MAB21L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAB21L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAB21L1 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 100 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MAB21L1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAB21L1 34 35
  • 95.08 (n)
cow
(Bos Taurus)
Mammalia MAB21L1 34 35
  • 94.43 (n)
mouse
(Mus musculus)
Mammalia Mab21l1 34 16 35
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Mab21l1 34
  • 89.88 (n)
chicken
(Gallus gallus)
Aves MAB21L1 34 35
  • 86.44 (n)
lizard
(Anolis carolinensis)
Reptilia MAB21L1 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mab21l1 34
  • 81.62 (n)
zebrafish
(Danio rerio)
Actinopterygii mab21l2 35
  • 94 (a)
ManyToMany
mab21l1 34
  • 80.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH11415 36
  • 72 (a)
CG4766 35
  • 71 (a)
ManyToMany
mab-21 34 35
  • 68.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MAB21_ANOGA 34
  • 67.32 (n)
worm
(Caenorhabditis elegans)
Secernentea mab-21 36 34
  • 56.89 (n)
Species where no ortholog for MAB21L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAB21L1 Gene

ENSEMBL:
Gene Tree for MAB21L1 (if available)
TreeFam:
Gene Tree for MAB21L1 (if available)

Paralogs for MAB21L1 Gene

Paralogs for MAB21L1 Gene

(1) SIMAP similar genes for MAB21L1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MAB21L1: view

Variants for MAB21L1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MAB21L1 Gene

MB211_HUMAN-Q13394
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.

Sequence variations from dbSNP and Humsavar for MAB21L1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000300376 -- 35,474,166(+) ACATC(C/T)TGTGA intron-variant, utr-variant-3-prime
rs1000567375 -- 35,474,511(+) TGATA(C/T)CTTTG intron-variant, utr-variant-3-prime
rs1000602935 -- 35,477,587(+) GAGAT(C/G)AAGCT intron-variant, upstream-variant-2KB
rs1001676886 -- 35,475,592(+) AGCAC(C/T)CCTCG intron-variant, upstream-variant-2KB, reference, missense
rs1001822147 -- 35,473,755(+) GGAAC(C/T)CTTAT intron-variant, downstream-variant-500B

Variation tolerance for MAB21L1 Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAB21L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAB21L1

No data available for Structural Variations from Database of Genomic Variants (DGV) for MAB21L1 Gene

Disorders for MAB21L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAB21L1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAB21L1

Genetic Association Database (GAD)
MAB21L1
Human Genome Epidemiology (HuGE) Navigator
MAB21L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAB21L1
genes like me logo Genes that share disorders with MAB21L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAB21L1 Gene

Publications for MAB21L1 Gene

  1. Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression. (PMID: 9950369) Margolis R.L. … Potter N.T. (J. Med. Genet. 1999) 3 4 22 64
  2. cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. (PMID: 8733127) Margolis R.L. … Ross C.A. (Hum. Mol. Genet. 1996) 2 3 4 64
  3. Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects. (PMID: 15526290) Merello E. … Capra V. (Birth Defects Res. A Clin. Mol. Teratol. 2004) 4 22 64
  4. Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3. (PMID: 11526470) Meira-Lima I.V. … Vallada H. (Mol. Psychiatry 2001) 3 46 64
  5. Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. (PMID: 9152839) Potter N.T. (J. Med. Genet. 1997) 3 4 64

Products for MAB21L1 Gene

Sources for MAB21L1 Gene

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