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ANKRD39 ankyrin repeat domain 39 [ Homo sapiens (human) ]

Gene ID: 51239, updated on 5-Mar-2024

Summary

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Official Symbol
ANKRD39provided by HGNC
Official Full Name
ankyrin repeat domain 39provided by HGNC
Primary source
HGNC:HGNC:28640
See related
Ensembl:ENSG00000213337 AllianceGenome:HGNC:28640
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
Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in protein K6-linked ubiquitination. Predicted to be part of BRCA1-A complex and BRCA1-BARD1 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 6.7), adrenal (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

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See ANKRD39 in Genome Data Viewer
Location:
2q11.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96847990..96858016, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (97354621..97364647, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97513727..97523753, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907859 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:97498033-97499232 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97503062-97503618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97503619-97504173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97507205-97507810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:97510949-97511138 Neighboring gene ankyrin repeat domain 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97531745-97532406 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97538976-97539476 Neighboring gene semaphorin 4C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97540777-97541537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97541538-97542298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:97547779-97548334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97553339-97553894 Neighboring gene family with sequence similarity 178 member B Neighboring gene Sharpr-MPRA regulatory region 12522 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:97564470-97564614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97569425-97569924 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:97572409-97573004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97578973-97579660 Neighboring gene uncharacterized LOC101927053

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. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
  2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Rush J, et al. Nat Biotechnol, 2005 Jan. PMID 15592455
  3. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
  4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

See all (17) 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

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

  • MGC41816

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 39

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_016466.6 → NP_057550.3  ankyrin repeat domain-containing protein 39

    See identical proteins and their annotated locations for NP_057550.3

    Status: VALIDATED

    Source sequence(s)
    BU626151, BX091421, DA769410
    Consensus CDS
    CCDS2028.1
    UniProtKB/Swiss-Prot
    Q53RE8, Q59FU2, Q8N5X5, Q9P0S5
    UniProtKB/TrEMBL
    B2R5H9
    Related
    ENSP00000377170.4, ENST00000393537.5
    Conserved Domains (3) summary
    sd00045
    Location:64 → 94
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:35 → 84
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:68 → 152
    Ank_2; Ankyrin repeats (3 copies)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    96847990..96858016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    97354621..97364647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53RE8.1 GenPept UniProtKB/Swiss-Prot:Q53RE8

Gene LinkOut

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