MAB21L1

Mab-21 like 1 is a protein that in humans is encoded by the MAB21L1 gene. ^[5]

MAB21L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EOG, 5EOM
Identifiers
Aliases	MAB21L1, CAGR1, Nbla00126, mab-21 like 1, COFG
External IDs	OMIM: 601280; MGI: 1333773; HomoloGene: 36183; GeneCards: MAB21L1; OMA:MAB21L1 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q13.3 Start 35,473,789 bp[1] End 35,476,689 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 C Start 55,689,931 bp[2] End 55,692,422 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium cerebellar vermis paraflocculus of cerebellum right hemisphere of cerebellum urethra secondary oocyte Achilles tendon nipple lactiferous gland human penis Top expressed in epithelium of lens neural layer of retina ciliary body retinal pigment epithelium iris pineal gland maxillary prominence lobe of cerebellum mandibular prominence cerebellar vermis More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding nucleotide binding ATP binding GTP binding transferase activity nucleotidyltransferase activity metal ion binding Cellular component nucleus Biological process multicellular organism development anatomical structure morphogenesis camera-type eye development positive regulation of cell population proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4081 17116 Ensembl ENSG00000180660 ENSMUSG00000056947 UniProt Q13394 O70299 RefSeq (mRNA) NM_005584 NM_010750 RefSeq (protein) NP_005575 NP_034880 Location (UCSC) Chr 13: 35.47 – 35.48 Mb Chr 3: 55.69 – 55.69 Mb PubMed search [3] [4]
Wikidata
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Function

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].