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    C19orf33 chromosome 19 open reading frame 33 [ Homo sapiens (human) ]

    Gene ID: 64073, updated on 3-Nov-2024

    Summary

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    Official Symbol
    C19orf33provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 33provided by HGNC
    Primary source
    HGNC:HGNC:16668
    See related
    Ensembl:ENSG00000167644 MIM:619711; AllianceGenome:HGNC:16668
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMUP; H2RSP; IMUP-1; IMUP-2
    Summary
    The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in colon (RPKM 62.2), small intestine (RPKM 43.1) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C19orf33 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38304251..38305006)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41106417..41107172)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38794891..38795646)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38746806-38746993 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38751829-38752766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38752767-38753703 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38753844-38754761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10565 Neighboring gene serine peptidase inhibitor, Kunitz type 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38785153-38785654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38788840-38789473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38791160-38791852 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38792217-38792464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794013-38794750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794751-38795488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38795489-38796226 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38798184-38798353 Neighboring gene Yip1 interacting factor homolog B, membrane trafficking protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38810313-38810936 Neighboring gene potassium two pore domain channel subfamily K member 6 Neighboring gene Sharpr-MPRA regulatory region 11361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10569 Neighboring gene cation channel sperm associated auxiliary subunit gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38833985-38834934 Neighboring gene small nucleolar RNA U13

    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. Identification of cDNAs encoding two novel nuclear proteins, IMUP-1 and IMUP-2, upregulated in SV40-immortalized human fibroblasts. Kim JK, et al. Gene, 2000 Oct 31. PMID 11080599
    2. IMUP-1 and IMUP-2 genes are up-regulated in human ovarian epithelial tumors. Kim JK, et al. Anticancer Res, 2003 Nov-Dec. PMID 14981917
    3. Nuclear translocation of H2RSP is impaired in regenerating intestinal epithelial cells of murine colitis model. Naganuma S, et al. Virchows Arch, 2006 Mar. PMID 16189703
    4. Enhanced expression of hepatocyte growth factor activator inhibitor type 2-related small peptide at the invasive front of colon cancers. Uchiyama S, et al. Gut, 2007 Feb. PMID 16809422, Free PMC Article
    5. Imup-1 and imup-2 overexpression in endometrial carcinoma in Korean and Japanese populations. Kim SJ, et al. Anticancer Res, 2008 Mar-Apr. PMID 18507030

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unraveling dedifferentiation and metastasis traces in pancreatic ductal adenocarcinoma ductal cells: Insights from single-cell RNA sequencing analysis of ITGB4 and C19orf33.
      Title: Unraveling dedifferentiation and metastasis traces in pancreatic ductal adenocarcinoma ductal cells: Insights from single-cell RNA sequencing analysis of ITGB4 and C19orf33.
    2. Immortalization-upregulated protein promotes pancreatic cancer progression by regulating NPM1/FHL1-mediated cell-cycle-checkpoint protein activity.
      Title: Immortalization-upregulated protein promotes pancreatic cancer progression by regulating NPM1/FHL1-mediated cell-cycle-checkpoint protein activity.
    3. Hypoxia-induced down-regulation of XIAP mediates apoptosis in trophoblasts through interaction with increased IMUP-2; this mechanism underlies the pathogenesis of pre-eclampsia.
      Title: Hypoxia-induced downregulation of XIAP in trophoblasts mediates apoptosis via interaction with IMUP-2: implications for placental development during pre-eclampsia.
    4. results suggest that IMUP-2 expression is specifically elevated in preterm pre-eclampsia and under hypoxic conditions, and that IMUP-2 induces apoptosis of the trophoblast
      Title: Increased immortalization-upregulated protein 2 (IMUP-2) by hypoxia induces apoptosis of the trophoblast and pre-eclampsia.
    5. Nuclear translocation of H2RSP may be related to a signaling involved in the transition from cellular proliferation to differentiation in experimental murine colitis.
      Title: Nuclear translocation of H2RSP is impaired in regenerating intestinal epithelial cells of murine colitis model.
    6. These findings demonstrate the up-regulation of imup-1 and imup-2 in human endometrial carcinomas and indicate that these molecules play a role in endometrial carcinogenesis in both Korean and Japanese patients.
      Title: Imup-1 and imup-2 overexpression in endometrial carcinoma in Korean and Japanese populations.
    7. results showed the up-regulation of IMUP-1 and IMUP-2 in human ovarian epithelial tumors and suggested that the altered mRNA level of these molecules is possibly associated with ovarian tumorigenesis
      Title: IMUP-1 and IMUP-2 genes are up-regulated in human ovarian epithelial tumors.
    8. Our findings suggest that the balance between hepsin and its inhibitor, HAI-2, may have prognostic value in RCC.
      Title: Clinical relevance of hepsin and hepatocyte growth factor activator inhibitor type 2 expression in renal cell carcinoma.
    9. H2RSP and H2RSP/HAI-2 chimeric peptides might function as a transcriptional regulatory peptide at the nucleus.
      Title: Identification of hepatocyte growth factor activator inhibitor type 2 (HAI-2)-related small peptide (H2RSP): its nuclear localization and generation of chimeric mRNA transcribed from both HAI-2 and H2RSP genes.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    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

    Potential readthrough

    Included gene: SPINT2

    Homology

    Clone Names

    • MGC39135, MGC75180

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    immortalization up-regulated protein
    Names
    HAI-2 related small protein
    hepatocyte growth factor activator inhibitor type 2-related small protein
    immortalization-upregulated protein

    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_001317801.2 → NP_001304730.1  immortalization up-regulated protein isoform IMUP-2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1, that causes a frameshift. The resulting isoform (IMUP-2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC060319, CB109881
      Consensus CDS
      CCDS82344.1
      UniProtKB/Swiss-Prot
      Q9GZP8
      Related
      ENSP00000464940.1, ENST00000588605.5
      Conserved Domains (1) summary
      pfam15761
      Location:1 → 52
      IMUP; Immortalisation up-regulated protein

    2. NM_033520.3 → NP_277055.1  immortalization up-regulated protein isoform IMUP-1

      See identical proteins and their annotated locations for NP_277055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (IMUP-1).
      Source sequence(s)
      AF213678, CB109881
      Consensus CDS
      CCDS12511.1
      UniProtKB/Swiss-Prot
      Q0P6G2, Q96H58, Q9GZP8, Q9HCR4
      Related
      ENSP00000301246.4, ENST00000301246.10
      Conserved Domains (1) summary
      pfam15761
      Location:1 → 79
      IMUP; Immortalization up-regulated protein

    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
      38304251..38305006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41106417..41107172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022125.1: Suppressed sequence

      Description
      NM_022125.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZP8.1 GenPept UniProtKB/Swiss-Prot:Q9GZP8

    Gene LinkOut

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

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