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    ANKRD13B ankyrin repeat domain 13B [ Homo sapiens (human) ]

    Gene ID: 124930, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD13Bprovided by HGNC
    Official Full Name
    ankyrin repeat domain 13Bprovided by HGNC
    Primary source
    HGNC:HGNC:26363
    See related
    Ensembl:ENSG00000198720 MIM:615124; AllianceGenome:HGNC:26363
    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
    Enables ubiquitin-modified protein reader activity. Involved in negative regulation of receptor internalization. Located in endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.9), brain (RPKM 5.2) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD13B in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29593132..29614761)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30536010..30557662)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27920150..27941779)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27896259-27896759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911138-27911952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911953-27912765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27914948-27915847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27916747-27917646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8379 Neighboring gene abhydrolase domain containing 15 Neighboring gene tumor protein p53 inducible protein 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27940429-27941292 Neighboring gene GIT ArfGAP 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27942158-27943021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8384 Neighboring gene Sharpr-MPRA regulatory region 12866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8385 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27950531-27951730 Neighboring gene NANOG hESC enhancer GRCh37_chr17:27960948-27961512 Neighboring gene Sharpr-MPRA regulatory region 11433 Neighboring gene uncharacterized LOC107984990 Neighboring gene coronin 6 Neighboring gene slingshot protein phosphatase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1. Burana D, et al. J Biol Chem, 2016 Mar 18. PMID 26797118, Free PMC Article
    2. The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. Tanno H, et al. Mol Biol Cell, 2012 Apr. PMID 22298428, Free PMC Article
    3. Ring Finger Protein 11 acts on ligand-activated EGFR via the direct interaction with the UIM region of ANKRD13 protein family. Mattioni A, et al. FEBS J, 2020 Aug. PMID 31985874
    4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Lango Allen H, et al. Nature, 2010 Oct 14. PMID 20881960, Free PMC Article
    5. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767

    See all (17) 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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    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

    • FLJ20418, FLJ25555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-modified protein reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-modified protein reader activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 13B

    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_152345.5 → NP_689558.4  ankyrin repeat domain-containing protein 13B

      See identical proteins and their annotated locations for NP_689558.4

      Status: VALIDATED

      Source sequence(s)
      AC104564, AK000425, AK092673, BG029526, DA445860
      Consensus CDS
      CCDS11251.1
      UniProtKB/Swiss-Prot
      Q86YJ7, Q8N7S9
      UniProtKB/TrEMBL
      Q6P5X6
      Related
      ENSP00000378328.3, ENST00000394859.8
      Conserved Domains (4) summary
      cd00204
      Location:13 → 105
      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 ...
      pfam11904
      Location:163 → 490
      GPCR_chapero_1; GPCR-chaperone
      pfam13857
      Location:34 → 88
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:13 → 45
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29593132..29614761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435326.1 → XP_047291282.1  ankyrin repeat domain-containing protein 13B isoform X4

    2. XM_005257920.6 → XP_005257977.2  ankyrin repeat domain-containing protein 13B isoform X1

    3. XM_047435327.1 → XP_047291283.1  ankyrin repeat domain-containing protein 13B isoform X6

    4. XM_011524321.3 → XP_011522623.2  ankyrin repeat domain-containing protein 13B isoform X7

    5. XM_047435329.1 → XP_047291285.1  ankyrin repeat domain-containing protein 13B isoform X7

    6. XM_011524320.3 → XP_011522622.2  ankyrin repeat domain-containing protein 13B isoform X7

    7. XM_017024175.3 → XP_016879664.1  ankyrin repeat domain-containing protein 13B isoform X5

      UniProtKB/TrEMBL
      B3KS27
      Conserved Domains (1) summary
      pfam11904
      Location:31 → 369
      GPCR_chapero_1; GPCR-chaperone

    8. XM_011524319.4 → XP_011522621.1  ankyrin repeat domain-containing protein 13B isoform X2

      UniProtKB/TrEMBL
      Q6P5X6
      Conserved Domains (4) summary
      cd00204
      Location:31 → 97
      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 ...
      pfam11904
      Location:155 → 493
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:40 → 93
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:39 → 70
      ANK; ANK repeat [structural motif]

    9. XM_047435325.1 → XP_047291281.1  ankyrin repeat domain-containing protein 13B isoform X3

      UniProtKB/TrEMBL
      Q6P5X6

    10. XM_017024176.3 → XP_016879665.1  ankyrin repeat domain-containing protein 13B isoform X5

      UniProtKB/TrEMBL
      B3KS27
      Related
      ENST00000487527.5
      Conserved Domains (1) summary
      pfam11904
      Location:31 → 369
      GPCR_chapero_1; GPCR-chaperone

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30536010..30557662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315031.1 → XP_054171006.1  ankyrin repeat domain-containing protein 13B isoform X4

    2. XM_054315028.1 → XP_054171003.1  ankyrin repeat domain-containing protein 13B isoform X1

    3. XM_054315033.1 → XP_054171008.1  ankyrin repeat domain-containing protein 13B isoform X6

    4. XM_054315037.1 → XP_054171012.1  ankyrin repeat domain-containing protein 13B isoform X7

    5. XM_054315035.1 → XP_054171010.1  ankyrin repeat domain-containing protein 13B isoform X7

    6. XM_054315036.1 → XP_054171011.1  ankyrin repeat domain-containing protein 13B isoform X7

    7. XM_054315032.1 → XP_054171007.1  ankyrin repeat domain-containing protein 13B isoform X5

      UniProtKB/TrEMBL
      B3KS27

    8. XM_054315029.1 → XP_054171004.1  ankyrin repeat domain-containing protein 13B isoform X2

      UniProtKB/TrEMBL
      Q6P5X6

    9. XM_054315030.1 → XP_054171005.1  ankyrin repeat domain-containing protein 13B isoform X3

      UniProtKB/TrEMBL
      Q6P5X6

    10. XM_054315034.1 → XP_054171009.1  ankyrin repeat domain-containing protein 13B isoform X5

      UniProtKB/TrEMBL
      B3KS27
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YJ7.4 GenPept UniProtKB/Swiss-Prot:Q86YJ7

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