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    ANKRD40CL ANKRD40 C-terminal like [ Homo sapiens (human) ]

    Gene ID: 55018, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD40CLprovided by HGNC
    Official Full Name
    ANKRD40 C-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:26080
    See related
    Ensembl:ENSG00000167117 AllianceGenome:HGNC:26080
    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
    Also known as
    C17orf73; LINC00483
    Expression
    Biased expression in small intestine (RPKM 28.5), duodenum (RPKM 28.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD40CL in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50761030..50767518, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51628184..51634672, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48838391..48844879, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48802297-48802796 Neighboring gene LUC7 like 3 pre-mRNA splicing factor Neighboring gene Sharpr-MPRA regulatory region 5668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12389 Neighboring gene microRNA 8059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48875946-48876496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48876497-48877047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48877048-48877597 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48883528-48883749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48907716-48908587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48908588-48909458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48909618-48910138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48910139-48910659 Neighboring gene WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

    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. LINC00483 is regulated by IGF2BP1 and participates in the progression of breast cancer. Qiao YS, et al. Eur Rev Med Pharmacol Sci, 2021 Feb. PMID 33629308
    2. Long non-coding RNA Linc00483 accelerated tumorigenesis of cervical cancer by regulating miR-508-3p/RGS17 axis. Hu P, et al. Life Sci, 2019 Oct 1. PMID 31454494
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    4. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00483 is regulated by IGF2BP1 and participates in the progression of breast cancer.
      Title: LINC00483 is regulated by IGF2BP1 and participates in the progression of breast cancer.
    2. Knock-down of Long non-coding RNA Linc00483 inhibited the development of cervical cancer by regulating miR-508-3p/RGS17 axis.
      Title: Long non-coding RNA Linc00483 accelerated tumorigenesis of cervical cancer by regulating miR-508-3p/RGS17 axis.
    Submit: New GeneRIF Correction

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20694

    General protein information

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    Preferred Names
    putative ANKRD40 C-terminal-like protein
    Names
    long intergenic non-protein coding RNA 483

    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_001358683.3 → NP_001345612.1  putative ANKRD40 C-terminal-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005921, AK000701, AK310037, BP382918
      Consensus CDS
      CCDS86616.1
      UniProtKB/Swiss-Prot
      Q53H64, Q9NWQ1
      Related
      ENSP00000494384.1, ENST00000450727.6

    2. NM_001411123.1 → NP_001398052.1  putative ANKRD40 C-terminal-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005921
      Consensus CDS
      CCDS92359.1
      UniProtKB/TrEMBL
      A0A2R8YGP7
      Related
      ENSP00000496239.1, ENST00000643007.1

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50761030..50767518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450818.2 → XP_024306586.1  putative ANKRD40 C-terminal-like protein isoform X1

    2. XM_024450816.2 → XP_024306584.1  putative ANKRD40 C-terminal-like protein isoform X1

    3. XM_024450817.2 → XP_024306585.1  putative ANKRD40 C-terminal-like protein isoform X1

    4. XM_024450819.2 → XP_024306587.1  putative ANKRD40 C-terminal-like protein isoform X1

    RNA

    1. XR_002958045.2 RNA Sequence

    2. XR_002958044.2 RNA Sequence

    3. XR_002958043.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51628184..51634672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316589.1 → XP_054172564.1  putative ANKRD40 C-terminal-like protein isoform X1

    2. XM_054316588.1 → XP_054172563.1  putative ANKRD40 C-terminal-like protein isoform X1

    3. XM_054316587.1 → XP_054172562.1  putative ANKRD40 C-terminal-like protein isoform X1

    4. XM_054316590.1 → XP_054172565.1  putative ANKRD40 C-terminal-like protein isoform X1

    RNA

    1. XR_008484851.1 RNA Sequence

    2. XR_008484850.1 RNA Sequence

    3. XR_008484849.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017928.1: Suppressed sequence

      Description
      NM_017928.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NR_024626.1: Suppressed sequence

      Description
      NR_024626.1: This RefSeq was removed because there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53H64.2 GenPept UniProtKB/Swiss-Prot:Q53H64

    Gene LinkOut

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

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    Research Materials