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    C19orf44 chromosome 19 open reading frame 44 [ Homo sapiens (human) ]

    Gene ID: 84167, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C19orf44provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 44provided by HGNC
    Primary source
    HGNC:HGNC:26141
    See related
    Ensembl:ENSG00000105072 AllianceGenome:HGNC:26141
    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
    Ubiquitous expression in testis (RPKM 10.2), ovary (RPKM 6.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See C19orf44 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16496394..16521352)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16631180..16656141)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16607205..16632163)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene epidermal growth factor receptor pathway substrate 15 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16528701-16529304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531117-16531720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531721-16532324 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16551872-16552372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16552373-16552873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14232 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:16555578-16556777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16564379-16564879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16565415-16565914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16567358-16568116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16572441-16573108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16573109-16573776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16575487-16576411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16581959-16582870 Neighboring gene Sharpr-MPRA regulatory region 3003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606242-16606742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606743-16607243 Neighboring gene calreticulin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10302 Neighboring gene calcium homeostasis endoplasmic reticulum protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14237 Neighboring gene RNA, 7SL, cytoplasmic 146, pseudogene Neighboring gene solute carrier family 35 member E1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16680351-16680851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16683261-16684135

    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. Multiple loci are associated with white blood cell phenotypes. Nalls MA, et al. PLoS Genet, 2011 Jun. PMID 21738480, Free PMC Article
    2. Large-scale analysis of the human ubiquitin-related proteome. Matsumoto M, et al. Proteomics, 2005 Nov. PMID 16196087
    3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206
    5. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21742, FLJ22492

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C19orf44

    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_001288834.2 → NP_001275763.1  uncharacterized protein C19orf44 isoform 2

      See identical proteins and their annotated locations for NP_001275763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC008764
      Consensus CDS
      CCDS74306.1
      UniProtKB/TrEMBL
      M0R2B3
      Related
      ENSP00000472436.1, ENST00000594035.5
      Conserved Domains (1) summary
      pfam15391
      Location:474 → 609
      DUF4614; Domain of unknown function (DUF4614)

    2. NM_032207.4 → NP_115583.1  uncharacterized protein C19orf44 isoform 1

      See identical proteins and their annotated locations for NP_115583.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC008764, AK025395
      Consensus CDS
      CCDS12345.1
      UniProtKB/Swiss-Prot
      Q8N6Y7, Q9H6X5
      Related
      ENSP00000221671.2, ENST00000221671.8
      Conserved Domains (1) summary
      pfam15391
      Location:474 → 641
      DUF4614; Domain of unknown function (DUF4614)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16496394..16521352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722920.5 → XP_006722983.1  uncharacterized protein C19orf44 isoform X2

      See identical proteins and their annotated locations for XP_006722983.1

      UniProtKB/TrEMBL
      M0R2B3
      Conserved Domains (1) summary
      pfam15391
      Location:474 → 609
      DUF4614; Domain of unknown function (DUF4614)

    2. XM_011528354.4 → XP_011526656.1  uncharacterized protein C19orf44 isoform X1

      See identical proteins and their annotated locations for XP_011526656.1

      UniProtKB/Swiss-Prot
      Q8N6Y7, Q9H6X5
      Conserved Domains (1) summary
      pfam15391
      Location:474 → 641
      DUF4614; Domain of unknown function (DUF4614)

    3. XM_047439503.1 → XP_047295459.1  uncharacterized protein C19orf44 isoform X3

    4. XM_047439504.1 → XP_047295460.1  uncharacterized protein C19orf44 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16631180..16656141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322314.1 → XP_054178289.1  uncharacterized protein C19orf44 isoform X2

      UniProtKB/TrEMBL
      M0R2B3

    2. XM_054322313.1 → XP_054178288.1  uncharacterized protein C19orf44 isoform X1

      UniProtKB/Swiss-Prot
      Q8N6Y7, Q9H6X5

    3. XM_054322315.1 → XP_054178290.1  uncharacterized protein C19orf44 isoform X3

    4. XM_054322316.1 → XP_054178291.1  uncharacterized protein C19orf44 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6X5.1 GenPept UniProtKB/Swiss-Prot:Q9H6X5

    Gene LinkOut

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