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

Summary

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

Location:: 19q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38304251..38305006)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41106417..41107172)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (38794891..38795646)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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)

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
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

38304251..38305006

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

41106417..41107172

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.