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

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; AllianceGenome:HGNC:27880
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: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67289303..67302484)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67283279..67296448)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67056774..67069955)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

overexpression of wild-type as well as truncated-mutant Ankrd 13A, 13B and 13D proteins strongly inhibited rapid endocytosis of ubiquitinated EGFR from the surface in EGF-treated cells
Title: The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

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

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D1S1361 (e-PCR)
- UniSTS:149557

MARC_15697-15698:1013523581:1 (e-PCR)
- UniSTS:267871

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D2S1254 (e-PCR)
- UniSTS:24950

STS-W92216 (e-PCR)
- UniSTS:50300

adrbk1sts1 (e-PCR)
- UniSTS:256645

D16S325 (e-PCR)
- UniSTS:147089

L17971 (e-PCR)
- UniSTS:43966

RH45377 (e-PCR)
- UniSTS:51406

WI-15244 (e-PCR)
- UniSTS:64509

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 late endosome	IEA Inferred from Electronic Annotation more info
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 13D

Names: ankyrin repeat domain 13 family, member D

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.

Genomic

NG_052619.1 RefSeqGene

Range

5013..18194

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001347901.2 → NP_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
NM_207354.3 → NP_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

D6RCN6, Q0VAK0, Q0VGC3, Q6ZTN6, Q6ZVD0, Q86SU1

Related

ENSP00000427130.2, ENST00000511455.7

Conserved Domains (4) summary

cd00204
Location:9 → 102

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 → 469

GPCR_chapero_1; GPCR-chaperone

pfam13637
Location:40 → 93

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:39 → 70

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

67289303..67302484

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426873.1 → XP_047282829.1 ankyrin repeat domain-containing protein 13D isoform X1
XM_047426874.1 → XP_047282830.1 ankyrin repeat domain-containing protein 13D isoform X1
XM_047426872.1 → XP_047282828.1 ankyrin repeat domain-containing protein 13D isoform X1

RNA

XR_428913.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

67283279..67296448

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368629.1 → XP_054224604.1 ankyrin repeat domain-containing protein 13D isoform X1
XM_054368630.1 → XP_054224605.1 ankyrin repeat domain-containing protein 13D isoform X1
XM_054368628.1 → XP_054224603.1 ankyrin repeat domain-containing protein 13D isoform X1