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Aliases for MUM1L1 Gene

Aliases for MUM1L1 Gene

  • Melanoma Associated Antigen (Mutated) 1-Like 1 2 3 5
  • Mutated Melanoma-Associated Antigen 1-Like Protein 1 4
  • MUM1-Like Protein 1 4

External Ids for MUM1L1 Gene

Previous GeneCards Identifiers for MUM1L1 Gene

  • GC0XP105218
  • GC0XP105412
  • GC0XP095038

Summaries for MUM1L1 Gene

Entrez Gene Summary for MUM1L1 Gene

  • This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

GeneCards Summary for MUM1L1 Gene

MUM1L1 (Melanoma Associated Antigen (Mutated) 1-Like 1) is a Protein Coding gene. An important paralog of this gene is MUM1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUM1L1 Gene

Genomics for MUM1L1 Gene

Regulatory Elements for MUM1L1 Gene

Genomic Location for MUM1L1 Gene

Chromosome:
X
Start:
106,168,278 bp from pter
End:
106,208,961 bp from pter
Size:
40,684 bases
Orientation:
Plus strand

Genomic View for MUM1L1 Gene

Genes around MUM1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUM1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUM1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUM1L1 Gene

Proteins for MUM1L1 Gene

  • Protein details for MUM1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H9M0-MUML1_HUMAN
    Recommended name:
    PWWP domain-containing protein MUM1L1
    Protein Accession:
    Q5H9M0
    Secondary Accessions:
    • D3DUX2
    • Q49AS5
    • Q8N2C0
    • Q96MT6

    Protein attributes for MUM1L1 Gene

    Size:
    696 amino acids
    Molecular mass:
    79040 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH31229.1; Type=Frameshift; Positions=406; Evidence={ECO:0000305}; Sequence=BAB71194.1; Type=Erroneous termination; Positions=638; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for MUM1L1 Gene

Proteomics data for MUM1L1 Gene at MOPED

Post-translational modifications for MUM1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MUM1L1 Gene

No data available for DME Specific Peptides for MUM1L1 Gene

Domains & Families for MUM1L1 Gene

Gene Families for MUM1L1 Gene

Protein Domains for MUM1L1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for MUM1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5H9M0

UniProtKB/Swiss-Prot:

MUML1_HUMAN :
  • Contains 1 PWWP domain.
  • Belongs to the MUM1 family.
Domain:
  • Contains 1 PWWP domain.
Family:
  • Belongs to the MUM1 family.
genes like me logo Genes that share domains with MUM1L1: view

Function for MUM1L1 Gene

Phenotypes for MUM1L1 Gene

genes like me logo Genes that share phenotypes with MUM1L1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MUM1L1 Gene

Localization for MUM1L1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUM1L1 Gene COMPARTMENTS Subcellular localization image for MUM1L1 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MUM1L1 Gene

Pathways & Interactions for MUM1L1 Gene

SuperPathways for MUM1L1 Gene

No Data Available

Interacting Proteins for MUM1L1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000338641%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000338641 for MUM1L1 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for MUM1L1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MUM1L1 Gene

Drugs & Compounds for MUM1L1 Gene

No Compound Related Data Available

Transcripts for MUM1L1 Gene

Unigene Clusters for MUM1L1 Gene

Melanoma associated antigen (mutated) 1-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUM1L1 Gene

No ASD Table

Relevant External Links for MUM1L1 Gene

GeneLoc Exon Structure for
MUM1L1
ECgene alternative splicing isoforms for
MUM1L1

Expression for MUM1L1 Gene

mRNA expression in normal human tissues for MUM1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUM1L1 Gene

This gene is overexpressed in Ovary (x20.0).

Protein differential expression in normal tissues from HIPED for MUM1L1 Gene

This gene is overexpressed in Ovary (54.4), Platelet (8.3), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUM1L1 Gene



SOURCE GeneReport for Unigene cluster for MUM1L1 Gene Hs.592221

genes like me logo Genes that share expression patterns with MUM1L1: view

Protein tissue co-expression partners for MUM1L1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MUM1L1 Gene

Orthologs for MUM1L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUM1L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MUM1L1 35
  • 84.49 (n)
  • 77.46 (a)
MUM1L1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUM1L1 35
  • 85.14 (n)
  • 77.71 (a)
MUM1L1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mum1l1 35
  • 75.36 (n)
  • 67.56 (a)
Mum1l1 16
Mum1l1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MUM1L1 35
  • 99.38 (n)
  • 98.56 (a)
MUM1L1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mum1l1 35
  • 76.16 (n)
  • 68.1 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 34 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 34 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 29 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii MUM1L1 36
  • 16 (a)
OneToMany
Species with no ortholog for MUM1L1:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MUM1L1 Gene

ENSEMBL:
Gene Tree for MUM1L1 (if available)
TreeFam:
Gene Tree for MUM1L1 (if available)

Paralogs for MUM1L1 Gene

Paralogs for MUM1L1 Gene

(2) SIMAP similar genes for MUM1L1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MUM1L1 Gene

genes like me logo Genes that share paralogs with MUM1L1: view

Variants for MUM1L1 Gene

Sequence variations from dbSNP and Humsavar for MUM1L1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs12392298 - 106,205,716(+) ACTGG(A/G)TATTC reference, missense
rs911855 -- 106,170,646(+) CCATT(C/G)AAAAT intron-variant
rs1757443 -- 106,167,525(+) GAAGT(A/G)AATAT upstream-variant-2KB
rs2071696 -- 106,201,396(+) CCTAT(A/G)GGGTT intron-variant
rs2027827 -- 106,209,109(+) AACAC(C/T)TGCTA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MUM1L1 Gene

Variant ID Type Subtype PubMed ID
esv2752312 CNV Gain 17911159
nsv521259 CNV Gain 19592680

Variation tolerance for MUM1L1 Gene

Residual Variation Intolerance Score: 9.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUM1L1 Gene

HapMap Linkage Disequilibrium report
MUM1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUM1L1 Gene

Disorders for MUM1L1 Gene

Relevant External Links for MUM1L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUM1L1

No disorders were found for MUM1L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MUM1L1 Gene

Publications for MUM1L1 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 67
  2. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for MUM1L1 Gene

Sources for MUM1L1 Gene

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