Details for: MAB21L1

Gene ID: 4081

Symbol: MAB21L1

Ensembl ID: ENSG00000180660

Description: mab-21 like 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 25.4294
    Cell Significance Index: -6.4500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 14.8563
    Cell Significance Index: -6.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 7.1254
    Cell Significance Index: 449.0900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.4210
    Cell Significance Index: 40.7800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 3.1293
    Cell Significance Index: 24.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.7362
    Cell Significance Index: 46.8900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.4843
    Cell Significance Index: 130.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.2135
    Cell Significance Index: 27.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.7562
    Cell Significance Index: 98.5500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.5609
    Cell Significance Index: 37.8100
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.0411
    Cell Significance Index: 12.6200
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.9708
    Cell Significance Index: 10.7800
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.8037
    Cell Significance Index: 8.8600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.7177
    Cell Significance Index: 10.0800
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.6516
    Cell Significance Index: 5.7400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.4738
    Cell Significance Index: 3.2100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4577
    Cell Significance Index: 13.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4500
    Cell Significance Index: 9.4200
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.3839
    Cell Significance Index: 4.3600
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.3571
    Cell Significance Index: 3.7200
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.3285
    Cell Significance Index: 3.7400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2871
    Cell Significance Index: 6.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1328
    Cell Significance Index: 84.3600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1306
    Cell Significance Index: 1.4200
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.1222
    Cell Significance Index: 0.9500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1031
    Cell Significance Index: 13.2200
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0859
    Cell Significance Index: 0.9700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: 0.0833
    Cell Significance Index: 0.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0810
    Cell Significance Index: 152.5500
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.0702
    Cell Significance Index: 0.6500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0494
    Cell Significance Index: 0.3800
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0441
    Cell Significance Index: 0.5500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0339
    Cell Significance Index: 3.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0260
    Cell Significance Index: 40.0700
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.0232
    Cell Significance Index: 0.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0211
    Cell Significance Index: 28.7200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0172
    Cell Significance Index: 31.7200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0065
    Cell Significance Index: 4.5200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0001
    Cell Significance Index: 0.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0014
    Cell Significance Index: -0.0700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0044
    Cell Significance Index: -0.1900
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: -0.0046
    Cell Significance Index: -0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0081
    Cell Significance Index: -6.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0088
    Cell Significance Index: -6.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0096
    Cell Significance Index: -4.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0101
    Cell Significance Index: -5.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0104
    Cell Significance Index: -5.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0114
    Cell Significance Index: -3.2700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0140
    Cell Significance Index: -0.5800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0145
    Cell Significance Index: -0.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0153
    Cell Significance Index: -5.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0203
    Cell Significance Index: -4.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0238
    Cell Significance Index: -3.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0287
    Cell Significance Index: -5.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0295
    Cell Significance Index: -6.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0300
    Cell Significance Index: -5.9500
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.0338
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0362
    Cell Significance Index: -6.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0420
    Cell Significance Index: -5.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0429
    Cell Significance Index: -5.5400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0517
    Cell Significance Index: -6.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0535
    Cell Significance Index: -6.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0562
    Cell Significance Index: -5.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0642
    Cell Significance Index: -3.0200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0646
    Cell Significance Index: -1.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0730
    Cell Significance Index: -5.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0747
    Cell Significance Index: -4.5900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0824
    Cell Significance Index: -5.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0922
    Cell Significance Index: -5.9500
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0939
    Cell Significance Index: -1.0100
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0988
    Cell Significance Index: -1.2400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1032
    Cell Significance Index: -2.2100
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.1038
    Cell Significance Index: -1.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1050
    Cell Significance Index: -8.0600
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1162
    Cell Significance Index: -1.1700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1190
    Cell Significance Index: -6.1800
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.1195
    Cell Significance Index: -1.2900
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1266
    Cell Significance Index: -1.2000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1329
    Cell Significance Index: -4.6600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1362
    Cell Significance Index: -2.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1369
    Cell Significance Index: -4.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1384
    Cell Significance Index: -6.1200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1422
    Cell Significance Index: -1.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1458
    Cell Significance Index: -4.6700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1506
    Cell Significance Index: -7.0200
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: -0.1520
    Cell Significance Index: -1.1000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1534
    Cell Significance Index: -1.7900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1577
    Cell Significance Index: -5.7900
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.1581
    Cell Significance Index: -1.8300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1621
    Cell Significance Index: -6.1400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1636
    Cell Significance Index: -5.6900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1715
    Cell Significance Index: -4.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1726
    Cell Significance Index: -5.4600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1768
    Cell Significance Index: -4.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1778
    Cell Significance Index: -5.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1844
    Cell Significance Index: -5.4300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1907
    Cell Significance Index: -5.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1944
    Cell Significance Index: -6.1900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1945
    Cell Significance Index: -2.7300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2041
    Cell Significance Index: -2.5500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MAB21L1 is a gene that exhibits high expression levels in neural cells, particularly those of the peripheral nervous system and the retina. The gene is involved in the regulation of cell growth, differentiation, and migration, and its expression is tightly regulated during development. MAB21L1 has been identified as a key player in several developmental pathways, including those related to eye development and the nervous system. The gene's involvement in cell population proliferation and its role in regulating cell growth and differentiation make it an important regulator of tissue development. **Pathways and Functions:** MAB21L1 is involved in several key developmental pathways, including: 1. **Anatomical structure morphogenesis:** MAB21L1 plays a crucial role in the development of anatomical structures, including the eye and the nervous system. 2. **Cell population proliferation:** The gene is involved in regulating cell growth and proliferation, particularly in neural cells. 3. **Eye development:** MAB21L1 is essential for the development of the camera-type eye, a critical structure for vision. 4. **GTP binding:** The gene is involved in GTP binding, a process that regulates cell growth and differentiation. 5. **Metal ion binding:** MAB21L1 has been shown to bind metal ions, which are essential for various cellular processes, including cell growth and differentiation. **Clinical Significance:** The functions of MAB21L1 have significant implications for our understanding of developmental disorders, including those related to the eye and the nervous system. Mutations in the MAB21L1 gene have been linked to various developmental abnormalities, including those related to eye development and the nervous system. Furthermore, the gene's role in regulating cell growth and differentiation makes it an important target for the development of new therapeutic strategies for various diseases, including cancer and neurodegenerative disorders. In conclusion, MAB21L1 is a complex gene with multiple functions in developmental biology and immunology. Its involvement in various developmental pathways, including those related to eye development and the nervous system, makes it an important regulator of tissue development. The gene's clinical significance is evident in its role in developmental disorders and its potential as a therapeutic target for various diseases. Further research is needed to fully understand the functions of MAB21L1 and its implications for human health.

Genular Protein ID: 324164361

Symbol: MB211_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q13394 Q6I9T5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8733127

Title: cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat.

PubMed ID: 8733127

DOI: 10.1093/hmg/5.5.607

PubMed ID: 12880961

Title: Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma.

PubMed ID: 12880961

DOI: 10.1016/s0304-3835(03)00085-5

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9152839

Title: Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.

PubMed ID: 9152839

DOI: 10.1136/jmg.34.5.411

PubMed ID: 9950369

Title: Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression.

PubMed ID: 9950369

PubMed ID: 15526290

Title: Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.

PubMed ID: 15526290

DOI: 10.1002/bdra.20084

PubMed ID: 27271801

Title: Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.

PubMed ID: 27271801

DOI: 10.1038/srep27498

PubMed ID: 27103078

Title: Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

PubMed ID: 27103078

DOI: 10.1111/cge.12794

PubMed ID: 30487245

Title: MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

PubMed ID: 30487245

DOI: 10.1136/jmedgenet-2018-105623

Sequence Information:

  • Length: 359
  • Mass: 40956
  • Checksum: A27C53FBC997A049
  • Sequence:
    • MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLNEMD 
NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS 
GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MVADTSEVKL RIRDRYVVQI TPAFKCTGIW 
PRSAAHWPLP HIPWPGPNRV AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR 
LQMGGCRKKC LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL 
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL TNPKSLEKL

Genular Protein ID: 540454827

Symbol: B2R805_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R805

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 2 InterPro 3 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 SMART 1

Sequence Information:

  • Length: 359
  • Mass: 41056
  • Checksum: 5E0536FBDC981046
  • Sequence:
    • MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLNEMD 
NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS 
GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MVADTSEVKL RIRDRYVVQI TPAFKCTRIW 
PRSAAHWPLP HIPWPGPNRV AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR 
LQMGGCRKKC LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL 
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL TNPKSLEKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.