MAB21L3 Gene (Protein Coding)

Mab-21 Like 3

GC01P116111
GIFtS:
27
See more...

Aliases for MAB21L3 Gene

Aliases for MAB21L3 Gene

  • Mab-21 Like 3 2 3 5
  • Protein Mab-21-Like 3 3 4
  • C1orf161 3 4
  • Chromosome 1 Open Reading Frame 161 2
  • Mab-21-Like 3 (C. Elegans) 2
  • FLJ38716 2
  • MAB21L3 5

External Ids for MAB21L3 Gene

Previous HGNC Symbols for MAB21L3 Gene

  • C1orf161

Previous GeneCards Identifiers for MAB21L3 Gene

  • GC01P116655
  • GC01P116075

Summaries for MAB21L3 Gene

GeneCards Summary for MAB21L3 Gene

MAB21L3 (Mab-21 Like 3) is a Protein Coding gene. Diseases associated with MAB21L3 include Methylmalonic Aciduria, Cblb Type and Epididymis Disease. An important paralog of this gene is MAB21L2.

Additional gene information for MAB21L3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAB21L3 Gene

Genomics for MAB21L3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAB21L3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J116109 Promoter/Enhancer 1.2 Ensembl ENCODE 250.7 -0.1 -109 3.4 CEBPA ZFP64 HOMEZ CEBPB ZNF513 ZNF511 TRIM22 SMAD4 SAP130 EP300 MAB21L3 CD58 IGSF3 piR-53177-003 SLC22A15
GH01J115975 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -134.1 -134119 4.2 ZSCAN16 CEBPA SMAD5 ZNF217 BRCA1 BHLHE40 ELF1 CEBPB REST GABPA SLC22A15 LOC101928977 ATP1A1-AS1 ENSG00000237993 CASQ2 MAB21L3 IGSF3 ATP1A1 HSALNG0006300
GH01J116150 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 7.1 +41.2 41211 3.6 TBP ZBTB10 MXD4 CEBPA IKZF1 MBD2 CTCF NONO ZIC2 HOMEZ MAB21L3 SLC22A15 ATP1A1 piR-33735-003 LINC01779
GH01J116138 Enhancer 1 ENCODE 5.2 +27.9 27887 1 CEBPA DEK IKZF1 ZFP64 ZNF217 CTCF BHLHE40 ZEB1 ELF1 ZIC2 ATP1A1 SLC22A15 MAB21L3 piR-33422-020 HSALNG0006307
GH01J116131 Enhancer 0.9 Ensembl ENCODE 5.3 +21.2 21201 2 CEBPA IKZF1 CEBPB ARNT TAL1 ZBTB5 CTBP1 ZNF316 HLTF NFE2 MAB21L3 SLC22A15 HSALNG0006307 piR-33422-020 ATP1A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAB21L3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAB21L3

Genomic Locations for MAB21L3 Gene

Latest Assembly
chr1:116,111,399-116,138,149
(GRCh38/hg38)
Size:
26,751 bases
Orientation:
Plus strand

Previous Assembly
chr1:116,654,020-116,680,770
(GRCh37/hg19 by Entrez Gene)
Size:
26,751 bases
Orientation:
Plus strand

chr1:116,654,376-116,677,861
(GRCh37/hg19 by Ensembl)
Size:
23,486 bases
Orientation:
Plus strand

Genomic View for MAB21L3 Gene

Genes around MAB21L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAB21L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAB21L3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAB21L3 Gene

Proteins for MAB21L3 Gene

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  • Protein details for MAB21L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8X9-MB213_HUMAN
    Recommended name:
    Protein mab-21-like 3
    Protein Accession:
    Q8N8X9
    Secondary Accessions:
    • Q5TDL7

    Protein attributes for MAB21L3 Gene

    Size:
    362 amino acids
    Molecular mass:
    42357 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MAB21L3 Gene

Post-translational modifications for MAB21L3 Gene

No Post-translational modifications

Other Protein References for MAB21L3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAB21L3 Gene

Domains & Families for MAB21L3 Gene

Gene Families for MAB21L3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAB21L3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAB21L3 Gene

GenScript: Design optimal peptide antigens:
  • Protein mab-21-like 3 (MB213_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N8X9

UniProtKB/Swiss-Prot:

MB213_HUMAN :
  • Belongs to the mab-21 family.
Family:
  • Belongs to the mab-21 family.
genes like me logo Genes that share domains with MAB21L3: view

Function for MAB21L3 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for MAB21L3 Gene

Gene Ontology (GO) - Molecular Function for MAB21L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MAB21L3: view
genes like me logo Genes that share phenotypes with MAB21L3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAB21L3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAB21L3 Gene

Localization for MAB21L3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAB21L3 gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MAB21L3 Gene

Pathways & Interactions for MAB21L3 Gene

PathCards logo

SuperPathways for MAB21L3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAB21L3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MAB21L3 Gene

Drugs & Compounds for MAB21L3 Gene

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No Compound Related Data Available

Transcripts for MAB21L3 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for MAB21L3 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAB21L3

Alternative Splicing Database (ASD) splice patterns (SP) for MAB21L3 Gene

No ASD Table

Relevant External Links for MAB21L3 Gene

GeneLoc Exon Structure for
MAB21L3

Expression for MAB21L3 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAB21L3 Gene

mRNA expression in normal human tissues for MAB21L3 Gene
mRNA expression by GTEx for MAB21L3 GenemRNA expression by BioGPS for MAB21L3 Gene

mRNA differential expression in normal tissues according to GTEx for MAB21L3 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.2), Liver (x5.9), and Vagina (x5.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAB21L3

SOURCE GeneReport for Unigene cluster for MAB21L3 Gene:

Hs.376194
genes like me logo Genes that share expression patterns with MAB21L3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAB21L3 Gene

Orthologs for MAB21L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAB21L3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MAB21L3 30 31
  • 99.17 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MAB21L3 30 31
  • 85.08 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAB21L3 30 31
  • 82.4 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mab21l3 30
  • 79.93 (n)
Mouse
(Mus musculus)
 Mammalia Mab21l3 30 17 31
  • 79.65 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MAB21L3 31
  • 61 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MAB21L3 31
  • 54 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MAB21L3 30 31
  • 71.43 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MAB21L3 31
  • 65 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii mab21l3 30 31
  • 61.72 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea mab-21 31
  • 21 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 22 (a)
 OneToOne
Species where no ortholog for MAB21L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for MAB21L3 Gene

ENSEMBL:
Gene Tree for MAB21L3 (if available)
TreeFam:
Gene Tree for MAB21L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAB21L3: view image

Paralogs for MAB21L3 Gene

Paralogs for MAB21L3 Gene

genes like me logo Genes that share paralogs with MAB21L3: view

Variants for MAB21L3 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAB21L3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAB21L3 Gene

Variant ID Type Subtype PubMed ID
esv27976 CNV loss 19812545
esv3567898 CNV gain 25503493
nsv831126 CNV gain 17160897

Variation tolerance for MAB21L3 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAB21L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAB21L3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAB21L3 Gene

Disorders for MAB21L3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAB21L3 Gene - From: COP

Disorder Aliases PubMed IDs
methylmalonic aciduria, cblb type
  • methylmalonic acidemia, cblb type
epididymis disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAB21L3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAB21L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAB21L3 Gene

Publications for MAB21L3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

ExternalLinks

View latest publications for MAB21L3 gene in Mastermind

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Sources for MAB21L3 Gene