PRSS35 serine protease 35 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS35provided by HGNC
Official Full Name: serine protease 35provided by HGNC
Primary source: HGNC:HGNC:21387
See related: Ensembl:ENSG00000146250 AllianceGenome:HGNC:21387
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: C6orf158; dJ223E3.1
Summary: Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary (RPKM 5.2), brain (RPKM 3.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (83512534..83525704)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (84735749..84748917)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (84222253..84235423)

Chromosome 6 - NC_000006.12 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?

We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene.
Title: Novel cleft susceptibility genes in chromosome 6q.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Mouse ortholog of human PRSS35 is an ovary-selectively expressed gene.
Title: The identification of novel ovarian proteases through the use of genomic and bioinformatic methodologies.

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

EBI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inactive serine protease 35

Names: protease, serine 35

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_001170423.2 → NP_001163894.1 inactive serine protease 35 precursor

See identical proteins and their annotated locations for NP_001163894.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL121939, AY358661, BC037170, DA251169

Consensus CDS

CCDS4999.1

UniProtKB/Swiss-Prot

A8K7B3, Q8N3Z0, Q9BQP6

Conserved Domains (1) summary

cl21584
Location:141 → 187

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_153362.3 → NP_699193.2 inactive serine protease 35 precursor

See identical proteins and their annotated locations for NP_699193.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL121939, BC037170, DA251169

Consensus CDS

CCDS4999.1

UniProtKB/Swiss-Prot

A8K7B3, Q8N3Z0, Q9BQP6

Related

ENSP00000358714.3, ENST00000369700.4

Conserved Domains (1) summary

cl21584
Location:141 → 187

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...