SMR3A submaxillary gland androgen regulated protein 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMR3Aprovided by HGNC
Official Full Name: submaxillary gland androgen regulated protein 3Aprovided by HGNC
Primary source: HGNC:HGNC:19216
See related: Ensembl:ENSG00000109208 MIM:618340; AllianceGenome:HGNC:19216
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: PBI; P-B1; PRL5; PROL5
Summary: Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in regulation of sensory perception of pain. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward salivary gland (RPKM 1417.1) See more
Orthologs: all
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Genomic context

Location:: 4q13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (70360760..70367158)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73700273..73706672)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (71226477..71232875)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show prominent SMR3A expression in head and neck squamous cell carcinoma, which was accompanied by an up-regulation of ESR2. These data suggest a critical role of ESR2 in radio-resistance and that SMR3A might serve as a surrogate marker for active ESR2 signaling.
Title: Regulation of submaxillary gland androgen-regulated protein 3A via estrogen receptor 2 in radioresistant head and neck squamous cell carcinoma cells.
High SMR3A expression is associated with aberrant differentiation into mucosal- or glandular-like cells in Adenoid Cystic Carcinoma of the Head and Neck.
Title: Expression of Submaxillary Gland Androgen-regulated Protein 3A (SMR3A) in Adenoid Cystic Carcinoma of the Head and Neck.
All members of the human opiorphin family of genes can potentially modulate erectile physiology. Both hSMR3 and ProL1 are down-regulated in the corpora of men with ED, and therefore both genes can potentially act as markers of ED.
Title: The opiorphin gene (ProL1) and its homologues function in erectile physiology.
Results suggest that hSMR3A can act as a marker for erectile dysfunction associated with both diabetic and non-diabetic etiologies.
Title: hSMR3A as a marker for patients with erectile dysfunction.

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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

SHGC-67927 (e-PCR)
- UniSTS:60294

SHGC-35364 (e-PCR)
- UniSTS:29928

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of sensory perception of pain	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: submaxillary gland androgen-regulated protein 3A

Names: proline rich 5 (salivary); proline- rich protein 5; proline-rich protein PBI; protein homologous to salivary proline-rich protein P-B; submaxillary gland androgen regulated protein 3 homolog A

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.