MAB21L1

Protein identityUniProt · HPA

UniProt accession

Q13394

Gene

MAB21L1

Ensembl

ENSG00000180660

Chromosome

13

Canonical length

359 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodecamer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>Q13394|MAB21L1
     1  MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLNEMD
    61  NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS
   121  GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MVADTSEVKL RIRDRYVVQI TPAFKCTGIW
   181  PRSAAHWPLP HIPWPGPNRV AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR
   241  LQMGGCRKKC LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL
   301  NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL TNPKSLEKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAB21L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

63 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAB21L1.

Disease | AllUniProt

Conditions MAB21L1 is implicated in, by any mechanism.

• Cerebellar, ocular, craniofacial, and genital syndrome (COFG) MIM:618479

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 46 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cerebellar, ocular, craniofacial, and genital syndrome
• Hypoplasia of scrotum

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.63

gnomAD pLI

0.29

gnomAD missense Z

1.1

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• camera-type eye development
• cell population proliferation
• eye development
• positive regulation of cell population proliferation

Molecular functions

• ATP binding
• GTP binding
• metal ion binding
• nucleotidyltransferase activity

Cellular components

• nucleus

Protein domainsUniProt · Pfam · InterPro

• MAB21L/Cyclic GMP-AMP synthase-like receptor
• Mab-21-like, nucleotidyltransferase domain
• Mab-21-like, HhH/H2TH-like domain
• Mab-21 protein nucleotidyltransferase domain
• Mab-21 protein HhH/H2TH-like domain

KeywordsUniProt

• ATP-binding
• Developmental protein
• GTP-binding
• Intellectual disability
• Magnesium
• Metal-binding
• Nucleotide-binding
• Nucleotidyltransferase
• Nucleus
• Transferase