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    MAB21L1 mab-21 like 1 [ Homo sapiens (human) ]

    Gene ID: 4081, updated on 17-Feb-2024

    Summary

    Official Symbol
    MAB21L1provided by HGNC
    Official Full Name
    mab-21 like 1provided by HGNC
    Primary source
    HGNC:HGNC:6757
    See related
    Ensembl:ENSG00000180660 MIM:601280; AllianceGenome:HGNC:6757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COFG; CAGR1; Nbla00126
    Summary
    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]
    Orthologs
    NEW
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    Genomic context

    See MAB21L1 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (35473789..35476689, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (34692155..34695037, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36047926..36050826, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene neurobeachin Neighboring gene VISTA enhancer hs1330 Neighboring gene SCAND3 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11126 Neighboring gene PHB1 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 14424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36049402-36050398 Neighboring gene mab-21 like 1 repeat instability region Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:36052912-36053708 Neighboring gene VISTA enhancer hs1333 Neighboring gene Sharpr-MPRA regulatory region 14935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5262 Neighboring gene uncharacterized LOC105370161 Neighboring gene uncharacterized LOC124903224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36270618-36271214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36271215-36271810

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    putative nucleotidyltransferase MAB21L1
    Names
    mab-21-like protein 1
    NP_005575.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016811.1 RefSeqGene

      Range
      5007..7907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005584.5NP_005575.1  putative nucleotidyltransferase MAB21L1

      See identical proteins and their annotated locations for NP_005575.1

      Status: REVIEWED

      Source sequence(s)
      AK313185, AL390071
      Consensus CDS
      CCDS9353.1
      UniProtKB/Swiss-Prot
      Q13394, Q6I9T5
      UniProtKB/TrEMBL
      B2R805, F1T0A2
      Related
      ENSP00000369251.4, ENST00000379919.6
      Conserved Domains (1) summary
      pfam03281
      Location:62344
      Mab-21; Mab-21 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      35473789..35476689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      34692155..34695037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)