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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

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