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Aliases for ANKRD50 Gene

Aliases for ANKRD50 Gene

  • Ankyrin Repeat Domain 50 2 3
  • KIAA1223 4

External Ids for ANKRD50 Gene

Summaries for ANKRD50 Gene

GeneCards Summary for ANKRD50 Gene

ANKRD50 (Ankyrin Repeat Domain 50) is a Protein Coding gene. An important paralog of this gene is ANKRD52.

UniProtKB/Swiss-Prot for ANKRD50 Gene

  • Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552)

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD50 Gene

Genomics for ANKRD50 Gene

Genomic Location for ANKRD50 Gene

Start:
124,664,048 bp from pter
End:
124,712,732 bp from pter
Size:
48,685 bases
Orientation:
Minus strand

Genomic View for ANKRD50 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKRD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD50 Gene

Regulatory Elements for ANKRD50 Gene

Proteins for ANKRD50 Gene

  • Protein details for ANKRD50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULJ7-ANR50_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 50
    Protein Accession:
    Q9ULJ7
    Secondary Accessions:
    • A8K4V3
    • B4DHJ6
    • E9PDW0
    • Q6N064
    • Q6ZSE6

    Protein attributes for ANKRD50 Gene

    Size:
    1429 amino acids
    Molecular mass:
    155859 Da
    Quaternary structure:
    • Interacts with VPS35 (PubMed:25278552).

    Alternative splice isoforms for ANKRD50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD50 Gene

Proteomics data for ANKRD50 Gene at MOPED

Post-translational modifications for ANKRD50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD50 Gene

Domains for ANKRD50 Gene

Gene Families for ANKRD50 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for ANKRD50 Gene

UniProtKB/Swiss-Prot:

ANR50_HUMAN
Similarity:
  • Contains 19 ANK repeats.:
    • Q9ULJ7
genes like me logo Genes that share domains with ANKRD50: view

Function for ANKRD50 Gene

Molecular function for ANKRD50 Gene

UniProtKB/Swiss-Prot Function: Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552)

Gene Ontology (GO) - Molecular Function for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21911577
genes like me logo Genes that share ontologies with ANKRD50: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ANKRD50 Gene

Localization for ANKRD50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD50 Gene

Endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD50 Gene COMPARTMENTS Subcellular localization image for ANKRD50 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with ANKRD50: view

Pathways for ANKRD50 Gene

SuperPathways for ANKRD50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:1990126 retrograde transport, endosome to plasma membrane IMP 25278552
genes like me logo Genes that share ontologies with ANKRD50: view

No data available for Pathways by source for ANKRD50 Gene

Transcripts for ANKRD50 Gene

mRNA/cDNA for ANKRD50 Gene

Unigene Clusters for ANKRD50 Gene

Ankyrin repeat domain 50:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD50 Gene

No ASD Table

Relevant External Links for ANKRD50 Gene

GeneLoc Exon Structure for
ANKRD50
ECgene alternative splicing isoforms for
ANKRD50

Expression for ANKRD50 Gene

mRNA expression in normal human tissues for ANKRD50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKRD50 Gene

SOURCE GeneReport for Unigene cluster for ANKRD50 Gene Hs.480694

genes like me logo Genes that share expressions with ANKRD50: view

Orthologs for ANKRD50 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD50 36
  • 99.51 (n)
  • 99.79 (a)
ANKRD50 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD50 36
  • 90.72 (n)
  • 97.9 (a)
ANKRD50 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD50 36
  • 93.52 (n)
  • 98.04 (a)
ANKRD50 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd50 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD50 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD50 37
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd50 36
  • 81.48 (n)
  • 95.02 (a)
chicken
(Gallus gallus)
Aves ANKRD50 36
  • 82.22 (n)
  • 93.65 (a)
ANKRD50 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD50 37
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13062 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd50 36
  • 77.9 (n)
  • 87.52 (a)
Str.3250 36
zebrafish
(Danio rerio)
Actinopterygii ANKRD50 (1 of 2) 37
  • 84 (a)
OneToMany
ANKRD50 (2 of 2) 37
  • 67 (a)
OneToMany
Dr.22036 36
si:dkey-145p14.5 36
  • 54.21 (n)
  • 51.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10011 37
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T28D6.4 37
  • 28 (a)
OneToOne
Species with no ortholog for ANKRD50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for ANKRD50 Gene

ENSEMBL:
Gene Tree for ANKRD50 (if available)
TreeFam:
Gene Tree for ANKRD50 (if available)

Paralogs for ANKRD50 Gene

Paralogs for ANKRD50 Gene

Selected SIMAP similar genes for ANKRD50 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ANKRD50: view

Variants for ANKRD50 Gene

Sequence variations from dbSNP and Humsavar for ANKRD50 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs313879 -- 124,666,924(+) TTTTT(A/T)AACTG utr-variant-3-prime
rs1495126 -- 124,664,919(+) TATCA(A/C)TTTCC utr-variant-3-prime
rs1495127 -- 124,668,002(+) TATAA(C/T)TTTGT intron-variant
rs1495128 -- 124,706,528(+) AGAAG(C/T)AAACT intron-variant
rs1826964 -- 124,696,432(+) AAAAA(A/G)AATGA intron-variant

Relevant External Links for ANKRD50 Gene

HapMap Linkage Disequilibrium report
ANKRD50
Human Gene Mutation Database (HGMD)
ANKRD50

No data available for Structural Variations from Database of Genomic Variants (DGV) for ANKRD50 Gene

Disorders for ANKRD50 Gene

Relevant External Links for ANKRD50

Genetic Association Database (GAD)
ANKRD50
Human Genome Epidemiology (HuGE) Navigator
ANKRD50
genes like me logo Genes that share disorders with ANKRD50: view

No data available for UniProtKB/Swiss-Prot for ANKRD50 Gene

Publications for ANKRD50 Gene

  1. Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. (PMID: 25278552) McGough I.J. … Cullen P.J. (J. Cell Sci. 2014) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for ANKRD50 Gene

Sources for ANKRD50 Gene

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