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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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