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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).

Additional gene information for MAB21L1 Gene

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

GeneHancer (GH) Regulatory Elements for MAB21L1 Gene

Promoters and enhancers for MAB21L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I035469 Promoter/Enhancer 2.6 UCNEbase EPDnew Ensembl ENCODE dbSUPER 550.8 +2.6 2555 9.9 PKNOX1 MZF1 SIN3A GLI4 ZNF2 ZNF335 GLIS2 ZNF366 ZSCAN5C SCRT2 MAB21L1 NBEA ENSG00000261728 GC13P035361
GH13I035952 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.3 -477.0 -477023 2.8 CTCF MZF1 EBF1 RAD21 POLR2A ELK1 ZNF143 CHD2 SRF ELK4 MAB21L1 LOC105370163 GC13P036065 DCLK1
GH13I035978 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.5 -502.6 -502596 2.4 CTCF MXI1 ZNF654 ZNF362 TRIM22 CEBPB REST RAD21 GATA3 JUND RNU6-71P DCLK1 MAB21L1 GC13P036065 LOC105370163
GH13I035562 Enhancer 0.4 UCNEbase 10.9 -85.6 -85577 0.5 MAB21L1 NBEA GC13P035514 LOC105370161
GH13I035926 Enhancer 0.9 Ensembl ENCODE 4.4 -450.2 -450197 2.3 ZBTB21 ZNF449 CEBPG HIC1 POLR2A ZBTB48 PATZ1 NFYB FOS ATF7 MAB21L1 LOC105370163 GC13P036065 DCLK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAB21L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAB21L1 gene promoter:

Genomic Locations for MAB21L1 Gene

Genomic Locations for MAB21L1 Gene
chr13:35,473,789-35,477,209
(GRCh38/hg38)
Size:
3,421 bases
Orientation:
Minus strand
chr13:36,047,926-36,050,832
(GRCh37/hg19)

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

Gene Families for MAB21L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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

miRNA for MAB21L1 Gene

miRTarBase miRNAs that target MAB21L1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Cytosol (3)
See all subcellular structures

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:

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

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 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MAB21L1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAB21L1 33 34
  • 95.08 (n)
cow
(Bos Taurus)
Mammalia MAB21L1 33 34
  • 94.43 (n)
mouse
(Mus musculus)
Mammalia Mab21l1 33 16 34
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Mab21l1 33
  • 89.88 (n)
chicken
(Gallus gallus)
Aves MAB21L1 34 33
  • 86.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAB21L1 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mab21l1 33
  • 81.62 (n)
zebrafish
(Danio rerio)
Actinopterygii mab21l2 34
  • 94 (a)
ManyToMany
mab21l1 33
  • 80.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH11415 35
  • 72 (a)
CG4766 34
  • 71 (a)
ManyToMany
mab-21 33 34
  • 68.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MAB21_ANOGA 33
  • 67.32 (n)
worm
(Caenorhabditis elegans)
Secernentea mab-21 35 33
  • 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 Variation AA Info Type
rs1000300376 -- 35,474,166(-) T/C 3_prime_UTR_variant
rs1000567375 -- 35,474,511(-) T/C 3_prime_UTR_variant
rs1000602935 -- 35,477,587(-) C/G upstream_transcript_variant
rs1001676886 -- 35,475,592(-) T/C coding_sequence_variant, missense_variant
rs1001822147 -- 35,473,755(-) C/T downstream_transcript_variant

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)

Additional Variant Information 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
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAB21L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RL … Potter NT (Journal of medical genetics 1999) 3 4 22 58
  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 RL … Ross CA (Human molecular genetics 1996) 2 3 4 58
  3. Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1. (PMID: 27271801) de Oliveira Mann CC … Hopfner KP (Scientific reports 2016) 3 4 58
  4. 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 research. Part A, Clinical and molecular teratology 2004) 4 22 58
  5. 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 IV … Vallada H (Molecular psychiatry 2001) 3 44 58

Products for MAB21L1 Gene

Sources for MAB21L1 Gene

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