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ANKRD13D ankyrin repeat domain 13D [ Homo sapiens (human) ]

Gene ID: 338692, updated on 15-Jun-2019

Summary

Official Symbol
ANKRD13Dprovided by HGNC
Official Full Name
ankyrin repeat domain 13Dprovided by HGNC
Primary source
HGNC:HGNC:27880
See related
Ensembl:ENSG00000172932 MIM:615126
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]
Expression
Broad expression in bone marrow (RPKM 36.3), spleen (RPKM 13.6) and 23 other tissues See more
Orthologs

Genomic context

See ANKRD13D in Genome Data Viewer
Location:
11q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (67289291..67302484)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67056762..67069955)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene lysine demethylase 2A Neighboring gene G protein-coupled receptor kinase 2 Neighboring gene uncharacterized LOC100130987 Neighboring gene slingshot protein phosphatase 3 Neighboring gene DNA polymerase delta 4, accessory subunit

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC50828

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ubiquitin-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 13D
Names
ankyrin repeat domain 13 family, member D

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052619.1 RefSeqGene

    Range
    5001..18194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347901.2NP_001334830.1  ankyrin repeat domain-containing protein 13D isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AP001885
    Consensus CDS
    CCDS86220.1
    UniProtKB/Swiss-Prot
    Q6ZTN6
    UniProtKB/TrEMBL
    A0A024R5D5
    Related
    ENSP00000310874.6, ENST00000308440.10
  2. NM_207354.2NP_997237.2  ankyrin repeat domain-containing protein 13D isoform 1

    See identical proteins and their annotated locations for NP_997237.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AP001885, BC044239, BC110419, DB460018
    Consensus CDS
    CCDS31616.2
    UniProtKB/Swiss-Prot
    Q6ZTN6
    Related
    ENSP00000427130.2, ENST00000511455.6
    Conserved Domains (4) summary
    cd00204
    Location:9102
    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:155469
    GPCR_chapero_1; GPCR-chaperone
    pfam13637
    Location:4093
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:3970
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67289291..67302484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544986.1XP_011543288.1  ankyrin repeat domain-containing protein 13D isoform X2

    See identical proteins and their annotated locations for XP_011543288.1

    Conserved Domains (1) summary
    pfam11904
    Location:68431
    GPCR_chapero_1; GPCR-chaperone
  2. XM_011544985.1XP_011543287.1  ankyrin repeat domain-containing protein 13D isoform X1

    Conserved Domains (4) summary
    cd00204
    Location:9102
    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:155518
    GPCR_chapero_1; GPCR-chaperone
    pfam13637
    Location:4093
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:3970
    ANK; ANK repeat [structural motif]
  3. XM_011544987.2XP_011543289.1  ankyrin repeat domain-containing protein 13D isoform X2

    See identical proteins and their annotated locations for XP_011543289.1

    Conserved Domains (1) summary
    pfam11904
    Location:68431
    GPCR_chapero_1; GPCR-chaperone
  4. XM_011544988.2XP_011543290.1  ankyrin repeat domain-containing protein 13D isoform X3

    Conserved Domains (1) summary
    pfam11904
    Location:1214
    GPCR_chapero_1; GPCR-chaperone

RNA

  1. XR_001747857.1 RNA Sequence

  2. XR_428913.2 RNA Sequence

  3. XR_949902.1 RNA Sequence

  4. XR_949901.1 RNA Sequence

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