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

Gene ID: 55018, updated on 4-Mar-2025

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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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Molecular Biology Databases
Research Materials