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

    Gene ID: 124930, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 5.9), brain (RPKM 5.2) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 13B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_152345.5NP_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:13105
      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:163490
      GPCR_chapero_1; GPCR-chaperone
      pfam13857
      Location:3488
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:1345
      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_047435326.1XP_047291282.1  ankyrin repeat domain-containing protein 13B isoform X4

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

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

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

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

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

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

      UniProtKB/TrEMBL
      B3KS27
      Conserved Domains (1) summary
      pfam11904
      Location:31369
      GPCR_chapero_1; GPCR-chaperone
    8. XM_011524319.4XP_011522621.1  ankyrin repeat domain-containing protein 13B isoform X2

      UniProtKB/TrEMBL
      Q6P5X6
      Conserved Domains (4) summary
      cd00204
      Location:3197
      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:155493
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:4093
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3970
      ANK; ANK repeat [structural motif]
    9. XM_047435325.1XP_047291281.1  ankyrin repeat domain-containing protein 13B isoform X3

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

      UniProtKB/TrEMBL
      B3KS27
      Related
      ENST00000487527.5
      Conserved Domains (1) summary
      pfam11904
      Location:31369
      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_054315031.1XP_054171006.1  ankyrin repeat domain-containing protein 13B isoform X4

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

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

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

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

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

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

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

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

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