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

Gene ID: 57182, updated on 4-Jul-2021

Summary

Official Symbol
ANKRD50provided by HGNC
Official Full Name
ankyrin repeat domain 50provided by HGNC
Primary source
HGNC:HGNC:29223
See related
Ensembl:ENSG00000151458
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
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

See ANKRD50 in Genome Data Viewer
Location:
4q28.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (124664048..124712732, complement)
105.20201022 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 long intergenic non-protein coding RNA 2516 Neighboring gene trans-2,3-enoyl-CoA reductase pseudogene 2 Neighboring gene FAT atypical cadherin 4 Neighboring gene microRNA 2054

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
ankyrin repeat domain-containing protein 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_001167882.2NP_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:795918
    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:804896
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:767820
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:352406
    Ank_5; Ankyrin repeats (many copies)
    pfam16592
    Location:42173
    Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
    sd00045
    Location:497528
    ANK; ANK repeat [structural motif]
  2. NM_020337.3NP_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
    Q9ULJ7
    Related
    ENSP00000425658.1, ENST00000504087.6
    Conserved Domains (7) summary
    cd00204
    Location:9741097
    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:9831075
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:22195
    AAA_16; AAA ATPase domain
    pfam13637
    Location:946999
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:531585
    Ank_5; Ankyrin repeats (many copies)
    pfam16592
    Location:221352
    Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
    sd00045
    Location:676707
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q9ULJ7
    Conserved Domains (7) summary
    cd00204
    Location:9741097
    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:9831075
    Ank_2; Ankyrin repeats (3 copies)
    pfam13191
    Location:22195
    AAA_16; AAA ATPase domain
    pfam13637
    Location:946999
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:531585
    Ank_5; Ankyrin repeats (many copies)
    pfam16592
    Location:221352
    Cas9_REC; REC lobe of CRISPR-associated endonuclease Cas9
    sd00045
    Location:676707
    ANK; ANK repeat [structural motif]
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