Aliases for MAK16 Gene

Aliases for MAK16 Gene

  • MAK16 Homolog 2 3 5
  • RNA Binding Motif Protein 13 2 3
  • Protein MAK16 Homolog 3 4
  • RBM13 3 4
  • NNP78 3 4
  • MAK16 Homolog (S. Cerevisiae) 2
  • RNA Binding Protein 3
  • Protein RBM13 4
  • MAK16L 3

External Ids for MAK16 Gene

Previous HGNC Symbols for MAK16 Gene

  • RBM13

Previous GeneCards Identifiers for MAK16 Gene

  • GC08P033342
  • GC08P031874

Summaries for MAK16 Gene

GeneCards Summary for MAK16 Gene

MAK16 (MAK16 Homolog) is a Protein Coding gene. Diseases associated with MAK16 include Mental Retardation, Autosomal Recessive 39 and Robinow Syndrome.

Gene Wiki entry for MAK16 Gene

Additional gene information for MAK16 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAK16 Gene

Genomics for MAK16 Gene

GeneHancer (GH) Regulatory Elements for MAK16 Gene

Promoters and enhancers for MAK16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAK16 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAK16

Top Transcription factor binding sites by QIAGEN in the MAK16 gene promoter:
  • c-Ets-1
  • Elk-1
  • FOXF2
  • FOXO4
  • HFH-1
  • LCR-F1
  • MEF-2
  • MEF-2A
  • Nkx6-1
  • YY1

Genomic Locations for MAK16 Gene

Genomic Locations for MAK16 Gene
chr8:33,485,167-33,501,262
(GRCh38/hg38)
Size:
16,096 bases
Orientation:
Plus strand
chr8:33,342,268-33,358,778
(GRCh37/hg19)
Size:
16,511 bases
Orientation:
Plus strand

Genomic View for MAK16 Gene

Genes around MAK16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAK16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAK16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAK16 Gene

Proteins for MAK16 Gene

  • Protein details for MAK16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXY0-MAK16_HUMAN
    Recommended name:
    Protein MAK16 homolog
    Protein Accession:
    Q9BXY0
    Secondary Accessions:
    • B2RB44
    • Q5U5T1
    • Q86UC4
    • Q96SY6

    Protein attributes for MAK16 Gene

    Size:
    300 amino acids
    Molecular mass:
    35369 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MAK16 Gene

Post-translational modifications for MAK16 Gene

  • Ubiquitination at Lys115
  • Modification sites at PhosphoSitePlus

Other Protein References for MAK16 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAK16 Gene

Domains & Families for MAK16 Gene

Gene Families for MAK16 Gene

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

Protein Domains for MAK16 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAK16 Gene

GenScript: Design optimal peptide antigens:
  • MAK16 protein (A0PJ56_HUMAN)
  • Protein RBM13 (MAK16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXY0

UniProtKB/Swiss-Prot:

MAK16_HUMAN :
  • Belongs to the MAK16 family.
Family:
  • Belongs to the MAK16 family.
genes like me logo Genes that share domains with MAK16: view

Function for MAK16 Gene

Phenotypes From GWAS Catalog for MAK16 Gene

Gene Ontology (GO) - Molecular Function for MAK16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with MAK16: view
genes like me logo Genes that share phenotypes with MAK16: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAK16 Gene

Localization for MAK16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAK16 Gene

Nucleus, nucleolus.

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 MAK16 gene
Compartment Confidence
nucleus 5
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAK16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA,IBA --
GO:0030687 preribosome, large subunit precursor IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MAK16: view

Pathways & Interactions for MAK16 Gene

PathCards logo

SuperPathways for MAK16 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAK16 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MAK16 Gene

Drugs & Compounds for MAK16 Gene

No Compound Related Data Available

Transcripts for MAK16 Gene

mRNA/cDNA for MAK16 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAK16 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:

Relevant External Links for MAK16 Gene

GeneLoc Exon Structure for
MAK16

Expression for MAK16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAK16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAK16 Gene

This gene is overexpressed in Fetal ovary (14.4), Liver (13.7), Adrenal (10.5), Peripheral blood mononuclear cells (10.3), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAK16 Gene



Protein tissue co-expression partners for MAK16 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAK16

SOURCE GeneReport for Unigene cluster for MAK16 Gene:

Hs.583805

Evidence on tissue expression from TISSUES for MAK16 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with MAK16: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAK16 Gene

Orthologs for MAK16 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAK16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAK16 31 30
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAK16 31 30
  • 91.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAK16 31 30
  • 90.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mak16 17 31 30
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Mak16 30
  • 86.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAK16 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAK16 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAK16 31 30
  • 74.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAK16 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mak16 30
  • 74.05 (n)
MGC75652 30
African clawed frog
(Xenopus laevis)
Amphibia mak16l-prov 30
zebrafish
(Danio rerio)
Actinopterygii mak16 31 30
  • 69.82 (n)
OneToOne
mak16l 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000514 30
  • 61.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbm13 31
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C16A3.6 31 30
  • 55.97 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04037g 30
  • 56.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAK16 33 31 30
  • 54.81 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR349W 30
  • 53.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G23280 30
  • 54.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToOne
Cin.4373 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mak16 30
  • 54.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04150 30
  • 53.38 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4373 30
Species where no ortholog for MAK16 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAK16 Gene

ENSEMBL:
Gene Tree for MAK16 (if available)
TreeFam:
Gene Tree for MAK16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAK16: view image

Paralogs for MAK16 Gene

No data available for Paralogs for MAK16 Gene

Variants for MAK16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAK16 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs3736497 Uncertain Significance: not specified 33,500,476(+) A/C MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs398122367 Pathogenic: Mental retardation, autosomal recessive 39 33,500,443(+) A/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs758541435 Uncertain Significance: not provided 33,500,399(+) T/TA NONSENSE,THREE_PRIME_UTR_VARIANT
rs6468171 - p.Gln277Arg

Additional dbSNP identifiers (rs#s) for MAK16 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAK16 Gene

Variant ID Type Subtype PubMed ID
esv3576539 CNV gain 25503493
nsv1117819 CNV deletion 24896259

Variation tolerance for MAK16 Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAK16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAK16

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAK16 Gene

Disorders for MAK16 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAK16 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 39
  • mrt39
robinow syndrome
  • robinow dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search MAK16 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAK16

genes like me logo Genes that share disorders with MAK16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAK16 Gene

Publications for MAK16 Gene

  1. Cryo-EM structure of an early precursor of large ribosomal subunit reveals a half-assembled intermediate. (PMID: 29557065) Zhou D … Ye K (Protein & cell 2019) 2 3 54
  2. Visualizing the Assembly Pathway of Nucleolar Pre-60S Ribosomes. (PMID: 29245012) Kater L … Beckmann R (Cell 2017) 2 3 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MAK16 Gene

Sources for MAK16 Gene