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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41801953..41811949, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42658495..42669488, complement)
RS_2024_09	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

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.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

L17709 (e-PCR)
- UniSTS:42599

D1S1425 (e-PCR)
- UniSTS:149621

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

Gene Ontology Provided by GOA

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

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
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
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
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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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_006455.3 → NP_006446.1 endoplasmic reticulum protein SC65 precursor

See identical proteins and their annotated locations for NP_006446.1

Status: VALIDATED

Source sequence(s)

AK056085, BC007942, U47621

Consensus CDS

CCDS11408.1

UniProtKB/Swiss-Prot

Q53GI6, Q92791, Q9H4F6

UniProtKB/TrEMBL

B4DVZ5

Related

ENSP00000377505.1, ENST00000393928.6

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41801953..41811949 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721640.5 → XP_006721703.2 endoplasmic reticulum protein SC65 isoform X2

UniProtKB/TrEMBL

B4DVZ5
XM_047435138.1 → XP_047291094.1 endoplasmic reticulum protein SC65 isoform X1
XM_047435137.1 → XP_047291093.1 endoplasmic reticulum protein SC65 isoform X3

UniProtKB/TrEMBL

B4DVZ5

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

42658495..42669488 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314726.1 → XP_054170701.1 endoplasmic reticulum protein SC65 isoform X5

UniProtKB/TrEMBL

B4DVZ5
XM_054314724.1 → XP_054170699.1 endoplasmic reticulum protein SC65 isoform X4
XM_054314725.1 → XP_054170700.1 endoplasmic reticulum protein SC65 isoform X2

UniProtKB/TrEMBL

B4DVZ5
XM_054314723.1 → XP_054170698.1 endoplasmic reticulum protein SC65 isoform X1