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

Gene ID: 124930, updated on 23-Nov-2021

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

See ANKRD13B in Genome Data Viewer
Location:
17q11.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (29589769..29615006)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27920150..27941779)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tumor protein p53 inducible protein 13 Neighboring gene GIT ArfGAP 1 Neighboring gene Sharpr-MPRA regulatory region 12866 Neighboring gene uncharacterized LOC107984990 Neighboring gene Sharpr-MPRA regulatory region 11433 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

Associated conditions

Description Tests
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20418, FLJ25555

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-dependent protein binding 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
PubMed 
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

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_152345.5NP_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
    UniProtKB/TrEMBL
    A0A024QZ29, B3KS27
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    29589769..29615006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024174.2XP_016879663.1  ankyrin repeat domain-containing protein 13B isoform X4

    Related
    ENST00000487527.5
    Conserved Domains (1) summary
    pfam11904
    Location:31369
    GPCR_chapero_1; GPCR-chaperone
  2. XM_024450570.1XP_024306338.1  ankyrin repeat domain-containing protein 13B isoform X1

    Conserved Domains (3) 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 ...
    sd00045
    Location:1345
    ANK; ANK repeat [structural motif]
    pfam11904
    Location:191518
    GPCR_chapero_1; GPCR-chaperone
  3. XM_005257920.5XP_005257977.1  ankyrin repeat domain-containing protein 13B isoform X2

    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:163501
    GPCR_chapero_1; GPCR-chaperone
    pfam13857
    Location:3488
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:1345
    ANK; ANK repeat [structural motif]
  4. XM_011524321.2XP_011522623.1  ankyrin repeat domain-containing protein 13B isoform X5

    See identical proteins and their annotated locations for XP_011522623.1

    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:163335
    GPCR_chapero_1; GPCR-chaperone
    pfam13857
    Location:3488
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:1345
    ANK; ANK repeat [structural motif]
  5. XM_011524320.2XP_011522622.1  ankyrin repeat domain-containing protein 13B isoform X5

    See identical proteins and their annotated locations for XP_011522622.1

    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:163335
    GPCR_chapero_1; GPCR-chaperone
    pfam13857
    Location:3488
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:1345
    ANK; ANK repeat [structural motif]
  6. XM_017024175.2XP_016879664.1  ankyrin repeat domain-containing protein 13B isoform X4

    Conserved Domains (1) summary
    pfam11904
    Location:31369
    GPCR_chapero_1; GPCR-chaperone
  7. XM_011524319.3XP_011522621.1  ankyrin repeat domain-containing protein 13B isoform X3

    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]
  8. XM_024450571.1XP_024306339.1  ankyrin repeat domain-containing protein 13B isoform X4

    Conserved Domains (1) summary
    pfam11904
    Location:31369
    GPCR_chapero_1; GPCR-chaperone
  9. XM_017024176.2XP_016879665.1  ankyrin repeat domain-containing protein 13B isoform X4

    Conserved Domains (1) summary
    pfam11904
    Location:31369
    GPCR_chapero_1; GPCR-chaperone

RNA

  1. XR_934366.2 RNA Sequence

  2. XR_934365.3 RNA Sequence

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