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    CCDC144NL CCDC144A N-terminal like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 339184, updated on 22-Oct-2024

    Summary

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    Official Symbol
    CCDC144NLprovided by HGNC
    Official Full Name
    CCDC144A N-terminal like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:33735
    See related
    Ensembl:ENSG00000291074 AllianceGenome:HGNC:33735
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in testis (RPKM 1.4), ovary (RPKM 0.2) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CCDC144NL in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (20863395..20896163, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (20812211..20844977, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (20766708..20799476, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene stearoyl-CoA desaturase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8309 Neighboring gene ABHD17A pseudogene 6 Neighboring gene CCDC144NL antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:20771529-20772419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20795800-20796300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20796301-20796801 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:20799361-20799876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:20802310-20803177 Neighboring gene RNA, U6 small nuclear 1178, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:20811295-20811890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8310 Neighboring gene ribonuclease H1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20841589-20842090 Neighboring gene uncharacterized LOC124900389 Neighboring gene Sharpr-MPRA regulatory region 15661 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:20845395-20845894 Neighboring gene uncharacterized LOC339260 Neighboring gene SPECC1 pseudogene 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 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. Knockdown of long noncoding RNA CCDC144NL-AS1 attenuates migration and invasion phenotypes in endometrial stromal cells from endometriosis†. Zhang C, et al. Biol Reprod, 2019 Apr 1. PMID 30496345
    2. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Evans DM, et al. Hum Mol Genet, 2013 Oct 1. PMID 23720494, Free PMC Article
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    4. 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. CCDC144NL-AS1 might be involved in the pathogenesis of Endometriosis and provide a novel target for ovarian Endometriosis.
      Title: Knockdown of long noncoding RNA CCDC144NL-AS1 attenuates migration and invasion phenotypes in endometrial stromal cells from endometriosis†.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog

    Variation

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    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

    Other Names

    • CCDC144A N-terminal pseudogene
    • coiled-coil domain containing 144 family, N-terminal like
    • putative coiled-coil domain-containing protein 144 N-terminal-like

    Clone Names

    • MGC87631

    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.

    RNA

    1. NR_164128.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090774
      Related
      ENST00000327925.7

    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
      20863395..20896163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      20812211..20844977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001004306.2: Suppressed sequence

      Description
      NM_001004306.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUI1.1 GenPept UniProtKB/Swiss-Prot:Q6NUI1

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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    Tools