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

Gene ID: 57182, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 9.1), urinary bladder (RPKM 8.9) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
4q28.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (124664048..124712732, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (127966536..128015225, complement)
105.20220307 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 (33) 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)

Genotypes

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_2023_10

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

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