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ANKRD65 ankyrin repeat domain 65 [ Homo sapiens (human) ]

Gene ID: 441869, updated on 17-Sep-2024

Summary

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Official Symbol
ANKRD65provided by HGNC
Official Full Name
ankyrin repeat domain 65provided by HGNC
Primary source
HGNC:HGNC:42950
See related
Ensembl:ENSG00000235098 AllianceGenome:HGNC:42950
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 lung (RPKM 2.8), urinary bladder (RPKM 2.8) and 23 other tissues See more
Orthologs
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Genomic context

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See ANKRD65 in Genome Data Viewer
Location:
1p36.33
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1418420..1421276, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (850350..854317, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1353800..1356656, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L20 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1341870-1342536 Neighboring gene RNA, 7SL, cytoplasmic 657, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:1342537-1343204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:1343205-1343871 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1344795-1345682 Neighboring gene MRPL20 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1345683-1346571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1346572-1347459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17 Neighboring gene ANKRD65 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1360776-1361641 Neighboring gene transmembrane protein 88B Neighboring gene long intergenic non-protein coding RNA 1770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1367749-1368492 Neighboring gene uncharacterized LOC107985729 Neighboring gene Sharpr-MPRA regulatory region 8235 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1370998-1371187

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 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. Transcription of human endogenous retroviral long terminal repeat (LTR) sequence in a lung cancer cell line. Tomita N, et al. Biochem Biophys Res Commun, 1990 Jan 15. PMID 2302192
  2. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. Lu L, et al. J Biol Chem, 2013 Dec 13. PMID 24163370, Free PMC Article
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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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Homology

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 65

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_001145210.3 → NP_001138682.1  ankyrin repeat domain-containing protein 65 isoform 1

    See identical proteins and their annotated locations for NP_001138682.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL391244, BC018095, BC063445, BC094869
    Consensus CDS
    CCDS55558.1
    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93
    Related
    ENSP00000445688.1, ENST00000537107.6
    Conserved Domains (3) summary
    cd00204
    Location:69 → 192
    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 ...
    pfam12796
    Location:273 → 364
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:268 → 299
    ANK; ANK repeat [structural motif]

  2. NM_001243535.2 → NP_001230464.1  ankyrin repeat domain-containing protein 65 isoform 2

    See identical proteins and their annotated locations for NP_001230464.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC018095, BC094869
    Consensus CDS
    CCDS57962.1
    UniProtKB/Swiss-Prot
    E5RJM6
    Related
    ENSP00000428419.1, ENST00000427211.3

  3. NM_001243536.2 → NP_001230465.1  ankyrin repeat domain-containing protein 65 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC094869
    Consensus CDS
    CCDS57963.1
    UniProtKB/Swiss-Prot
    E5RJM6
    Related
    ENSP00000429035.1, ENST00000520296.5

  4. NM_001375659.1 → NP_001362588.1  ankyrin repeat domain-containing protein 65 isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC073150, BI755193, CD387703
    Consensus CDS
    CCDS57962.1
    Related
    ENSP00000428201.1, ENST00000442470.1

  5. NM_001375660.1 → NP_001362589.1  ankyrin repeat domain-containing protein 65 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL391244
    Consensus CDS
    CCDS57963.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1418420..1421276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244752.5 → XP_005244809.1  ankyrin repeat domain-containing protein 65 isoform X1

    See identical proteins and their annotated locations for XP_005244809.1

    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93
    Conserved Domains (3) summary
    cd00204
    Location:69 → 192
    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 ...
    pfam12796
    Location:273 → 364
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:268 → 299
    ANK; ANK repeat [structural motif]

  2. XM_006710647.4 → XP_006710710.1  ankyrin repeat domain-containing protein 65 isoform X1

    See identical proteins and their annotated locations for XP_006710710.1

    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93
    Conserved Domains (3) summary
    cd00204
    Location:69 → 192
    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 ...
    pfam12796
    Location:273 → 364
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:268 → 299
    ANK; ANK repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    850350..854317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336692.1 → XP_054192667.1  ankyrin repeat domain-containing protein 65 isoform X1

    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93

  2. XM_054336693.1 → XP_054192668.1  ankyrin repeat domain-containing protein 65 isoform X1

    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93

  3. XM_054336694.1 → XP_054192669.1  ankyrin repeat domain-containing protein 65 isoform X1

    UniProtKB/Swiss-Prot
    E5RJM6, J3KR93
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E5RJM6.2 GenPept UniProtKB/Swiss-Prot:E5RJM6

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