P3H4 prolyl 3-hydroxylase family member 4 (inactive) [Homo sapiens (human)] - Gene

Summary

Official Symbol: P3H4provided by HGNC
Official Full Name: prolyl 3-hydroxylase family member 4 (inactive)provided by HGNC
Primary source: HGNC:HGNC:16946
See related: Ensembl:ENSG00000141696 MIM:617419; AllianceGenome:HGNC:16946
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
Also known as: NO55; SC65; NOL55; LEPREL4
Summary: This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 4.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41801953..41811949, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42658495..42668509, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39958205..39968201, complement)

Chromosome 17 - NC_000017.11 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?

P3H4 and PLOD1 expression associates with poor prognosis in bladder cancer.
Title: P3H4 and PLOD1 expression associates with poor prognosis in bladder cancer.
P3H4 Overexpression Serves as a Prognostic Factor in Lung Adenocarcinoma.
Title: P3H4 Overexpression Serves as a Prognostic Factor in Lung Adenocarcinoma.
Knockdown of P3H4 inhibits proliferation and invasion of bladder cancer.
Title: Knockdown of P3H4 inhibits proliferation and invasion of bladder cancer.
High P3H4 expression is associated with bladder cancer.
Title: P3H4 is correlated with clinicopathological features and prognosis in bladder cancer.
SC65 protein is identified as an autoimmune target in idiopathic membranous nephropathy.
Title: Identification and characterization of a new autoimmune protein in membranous nephropathy by immunoscreening of a renal cDNA library.

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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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Markers

L17709 (e-PCR)
- UniSTS:42599

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-67307 (e-PCR)
- UniSTS:89991

Homology

Homologs of the P3H4 gene: The P3H4 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 293 organisms have orthologs with human gene P3H4
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to collagen binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in bone remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-lysine hydroxylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in peptidyl-lysine hydroxylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptonemal complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic complex	IEA Inferred from Electronic Annotation more info
located_in condensed nuclear chromosome	TAS Traceable Author Statement more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	TAS Traceable Author Statement more info	PubMed
located_in synaptonemal complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: endoplasmic reticulum protein SC65

Names: leprecan-like 4; leprecan-like protein 4; nucleolar autoantigen (55kD); nucleolar autoantigen No55; nucleolar autoantigen, 55kDa; prolyl 3-hydroxylase family member 4 (non-enzymatic); synaptonemal complex 65; synaptonemal complex protein SC65

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.