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

Gene ID: 124930, updated on 11-Apr-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-dependent protein binding activity. Involved in negative regulation of receptor internalization. Located in endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 5.9), brain (RPKM 5.2) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29593132..29614761)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30536010..30557662)
105.20220307 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: 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. 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 (16) 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)

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

  • 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_2023_10

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

  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

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

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

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

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

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