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Aliases for MAB21L1 Gene

Aliases for MAB21L1 Gene

  • Mab-21-Like 1 (C. Elegans) 2 3
  • CAGR1 3 4
  • Mab-21 (C. Elegans)-Like 1 2
  • Mab-21-Like Protein 1 3
  • Protein Mab-21-Like 1 3
  • Nbla00126 3

External Ids for MAB21L1 Gene

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 (C. Elegans)) is a Protein Coding gene. An important paralog of this gene is MAB21L3.

UniProtKB/Swiss-Prot for MAB21L1 Gene

  • Required for several aspects of embryonic development including normal development of the eye.

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

Genomics for MAB21L1 Gene

Genomic Location for MAB21L1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAB21L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAB21L1 Gene

Regulatory Elements for MAB21L1 Gene

Proteins for MAB21L1 Gene

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

    Protein Symbol:
    Q13394-MB211_HUMAN
    Recommended name:
    Protein mab-21-like 1
    Protein Accession:
    Q13394
    Secondary Accessions:
    • Q6I9T5

    Protein attributes for MAB21L1 Gene

    Size:
    359 amino acids
    Molecular mass:
    40956 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

neXtProt entry for MAB21L1 Gene

Proteomics data for MAB21L1 Gene at MOPED

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 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
Family:
  • Belongs to the mab-21 family.:
    • Q13394
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: Required for several aspects of embryonic development including normal development of the eye.

Gene Ontology (GO) - Molecular Function for MAB21L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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:

miRNA for MAB21L1 Gene

miRTarBase miRNAs that target MAB21L1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MAB21L1 Gene

Localization for MAB21L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAB21L1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAB21L1 Gene COMPARTMENTS Subcellular localization image for MAB21L1 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 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 for MAB21L1 Gene

SuperPathways for MAB21L1 Gene

No Data Available

Interacting Proteins for MAB21L1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369251%0d%0a9606.ENSP00000349156%0d%0a9606.ENSP00000372191%0d%0a
Selected Interacting proteins: ENSP00000369251 Q13394-MB211_HUMAN for MAB21L1 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for MAB21L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for MAB21L1 Gene

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:

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 for MAB21L1 Gene

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (15.4) and Brain - Cerebellum (13.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MAB21L1 Gene

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.
genes like me logo Genes that share expressions with MAB21L1: view

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 35
  • 100 (n)
  • 100 (a)
MAB21L1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAB21L1 35
  • 94.43 (n)
  • 100 (a)
MAB21L1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAB21L1 35
  • 95.08 (n)
  • 100 (a)
MAB21L1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mab21l1 35
  • 90.25 (n)
  • 100 (a)
Mab21l1 16
Mab21l1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 100 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MAB21L1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mab21l1 35
  • 89.88 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves MAB21L1 35
  • 86.44 (n)
  • 100 (a)
MAB21L1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAB21L1 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mab21l1 35
  • 81.62 (n)
  • 98.89 (a)
zebrafish
(Danio rerio)
Actinopterygii mab21l1 35
  • 80.13 (n)
  • 97.49 (a)
mab21l2 36
  • 94 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta MAB21_ANOGA 35
  • 67.32 (n)
  • 76.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4766 36
  • 71 (a)
ManyToMany
mab-21 35
  • 68.25 (n)
  • 75.21 (a)
mab-21 36
  • 74 (a)
ManyToMany
BcDNA:GH11415 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea mab-21 35
  • 56.89 (n)
  • 56.7 (a)
mab-21 37
  • 44 (a)
Species with no ortholog for MAB21L1:
  • 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

Selected 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

Sequence variations from dbSNP and Humsavar for MAB21L1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
VAR_037568 -

Structural Variations from Database of Genomic Variants (DGV) for MAB21L1 Gene

Variant ID Type Subtype PubMed ID
nsv899990 CNV Gain 21882294

Relevant External Links for MAB21L1 Gene

HapMap Linkage Disequilibrium report
MAB21L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAB21L1 Gene

Disorders for MAB21L1 Gene

Relevant External Links for MAB21L1

Genetic Association Database (GAD)
MAB21L1
Human Genome Epidemiology (HuGE) Navigator
MAB21L1
genes like me logo Genes that share disorders with MAB21L1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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
  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 23
  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 48
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for MAB21L1 Gene

Sources for MAB21L1 Gene

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