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    ANKRD50 ankyrin repeat domain containing 50 [ Homo sapiens (human) ]

    Gene ID: 57182, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD50provided by HGNC
    Official Full Name
    ankyrin repeat domain containing 50provided by HGNC
    Primary source
    HGNC:HGNC:29223
    See related
    Ensembl:ENSG00000151458 MIM:619856; AllianceGenome:HGNC:29223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in endocytic recycling. Predicted to be located in endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.1), urinary bladder (RPKM 8.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD50 in Genome Data Viewer
    Location:
    4q28.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (124664048..124712732, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (127966536..128015225, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (125585203..125633887, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:125404098-125404628 Neighboring gene long intergenic non-protein coding RNA 2516 Neighboring gene trans-2,3-enoyl-CoA reductase pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr4:125633295-125633860 and GRCh37_chr4:125633861-125634426 Neighboring gene NANOG hESC enhancer GRCh37_chr4:126189240-126189741 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:126246738-126247342 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:126278491-126279282 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:126279283-126280072 Neighboring gene FAT atypical cadherin 4 Neighboring gene microRNA 2054

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50. Kvainickas A, et al. J Cell Sci, 2017 Jan 15. PMID 27909246, Free PMC Article
    2. Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. McGough IJ, et al. J Cell Sci, 2014 Nov 15. PMID 25278552, Free PMC Article
    3. A physical interaction network of dengue virus and human proteins. Khadka S, et al. Mol Cell Proteomics, 2011 Dec. PMID 21911577, Free PMC Article
    4. Identification of substrates of SMURF1 ubiquitin ligase activity utilizing protein microarrays. Andrews PS, et al. Assay Drug Dev Technol, 2010 Aug. PMID 20804422
    5. 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. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 50
    Names
    ankyrin repeat domain 50

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001167882.2 → NP_001161354.1  ankyrin repeat domain-containing protein 50 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB033049, AC105421, AK295135, BC024725
      Consensus CDS
      CCDS54802.1
      UniProtKB/Swiss-Prot
      Q9ULJ7
      UniProtKB/TrEMBL
      Q8TB46
      Related
      ENSP00000425355.1, ENST00000515641.1
      Conserved Domains (6) summary
      cd00204
      Location:795 → 918
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:804 → 896
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:767 → 820
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:352 → 406
      Ank_5; Ankyrin repeats (many copies)
      pfam16592
      Location:42 → 173
      Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
      sd00045
      Location:497 → 528
      ANK; ANK repeat [structural motif]

    2. NM_020337.3 → NP_065070.1  ankyrin repeat domain-containing protein 50 isoform 1

      See identical proteins and their annotated locations for NP_065070.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA628892, AB033049, AK127496, AK291068, AK295135, CX871714
      Consensus CDS
      CCDS34060.1
      UniProtKB/Swiss-Prot
      A8K4V3, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6, Q9ULJ7
      Related
      ENSP00000425658.1, ENST00000504087.6
      Conserved Domains (7) summary
      cd00204
      Location:974 → 1097
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:983 → 1075
      Ank_2; Ankyrin repeats (3 copies)
      pfam13191
      Location:22 → 195
      AAA_16; AAA ATPase domain
      pfam13637
      Location:946 → 999
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:531 → 585
      Ank_5; Ankyrin repeats (many copies)
      pfam16592
      Location:221 → 352
      Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
      sd00045
      Location:676 → 707
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      124664048..124712732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415992.1 → XP_047271948.1  ankyrin repeat domain-containing protein 50 isoform X1

      UniProtKB/Swiss-Prot
      A8K4V3, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6, Q9ULJ7

    2. XM_017008471.2 → XP_016863960.1  ankyrin repeat domain-containing protein 50 isoform X1

      UniProtKB/Swiss-Prot
      A8K4V3, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6, Q9ULJ7
      Conserved Domains (7) summary
      cd00204
      Location:974 → 1097
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:983 → 1075
      Ank_2; Ankyrin repeats (3 copies)
      pfam13191
      Location:22 → 195
      AAA_16; AAA ATPase domain
      pfam13637
      Location:946 → 999
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:531 → 585
      Ank_5; Ankyrin repeats (many copies)
      pfam16592
      Location:221 → 352
      Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
      sd00045
      Location:676 → 707
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      127966536..128015225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350558.1 → XP_054206533.1  ankyrin repeat domain-containing protein 50 isoform X1

      UniProtKB/Swiss-Prot
      A8K4V3, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6, Q9ULJ7

    2. XM_054350559.1 → XP_054206534.1  ankyrin repeat domain-containing protein 50 isoform X1

      UniProtKB/Swiss-Prot
      A8K4V3, B4DHJ6, E9PDW0, Q6N064, Q6ZSE6, Q9ULJ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULJ7.4 GenPept UniProtKB/Swiss-Prot:Q9ULJ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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