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

Gene ID: 4081, updated on 10-Jul-2021

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
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
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Genomic context

See MAB21L1 in Genome Data Viewer
Location:
13q13.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (35473789..35476689, complement)
105.20201022 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 prohibitin pseudogene 13 Neighboring gene mab-21 like 1 repeat instability region Neighboring gene VISTA enhancer hs1333 Neighboring gene uncharacterized LOC105370161

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

Homology

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 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)

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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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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