MAB21L1 - mab-21 like 1 Gene

Also Known as COFG; CAGR1; Nbla00126

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4081

About MAB21L1

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:35,473,789-35,476,689 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 9 paralogues and is associated with 2 phenotypes.

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]

MAB21L1 Products (1)

mRNA Protein Name
NM_005584.5 NP_005575.1 putative nucleotidyltransferase MAB21L1

MAB21L1 Protein Structure

Mab-21

Mab-21: Mab-21 protein (62 - 346)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
Protein Preferred Names Protein Names

putative nucleotidyltransferase MAB21L1

  • mab-21-like protein 1

MAB21L1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
MAB21L1 Q13394 PBX2 Homo sapiens P40425
Anti Tag CoIP
28514442
Intra
MAB21L1 Q13394 PBX2 Homo sapiens P40425
Anti Tag CoIP
33961781
Intra
MAB21L1 Q13394 SIAH1 Homo sapiens Q8IUQ4
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cerebellar, Ocular, Craniofacial, And Genital Syndrome

  • COFG
Cerebellar Hypoplasia
Hydrophthalmos
Glaucoma 3, Primary Congenital, A

  • Buphthalmos

  • Glaucoma, Congenital

  • Congenital Glaucoma

  • Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

  • GLC3A

  • Glc3

  • Buphthalmia

  • Primary Congenital Glaucoma

  • Glaucoma, Primary Open Angle, Juvenile-Onset

  • Simple Buphthalmos

  • Buphthalmus

  • Glaucoma, Primary Open Angle, Adult-Onset

  • Primary Congenital Glaucoma 3a

  • Primary Infantile Glaucoma Type 3a

  • Glaucoma 3a, Primary Congenital

  • Glaucoma, Congenital, Primary, Type 3a

  • Hydrophthalmos

  • Cystic Eyeball
Neural Tube Defects

  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos
Coloboma Of Macula

  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS07938 MAB21L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MAB21L1 VGNC VGNC:31127
Macaca mulatta MAB21L1 VGNC VGNC:74470
Felis catus MAB21L1 VGNC VGNC:68121
Mus musculus MAB21L1 MGD MGI:1333773
Canis familiaris MAB21L1 VGNC VGNC:42910
Rattus norvegicus MAB21L1 RGD RGD:1589984
Others MAB21L1 NCBI