SEMG1 semenogelin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEMG1provided by HGNC
Official Full Name: semenogelin 1provided by HGNC
Primary source: HGNC:HGNC:10742
See related: Ensembl:ENSG00000124233 MIM:182140; AllianceGenome:HGNC:10742
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: SGI; SEMG; CT103; dJ172H20.2
Summary: The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 20q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45207033..45209768)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46942926..46945661)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43835674..43838409)

Chromosome 20 - NC_000020.11 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 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?

SEMG1/2 augment energy metabolism of tumor cells.
Title: SEMG1/2 augment energy metabolism of tumor cells.
Human Semenogelin 1 Promotes Sperm Survival in the Mouse Female Reproductive Tract.
Title: Human Semenogelin 1 Promotes Sperm Survival in the Mouse Female Reproductive Tract.
The findings demonstrated that the presence of SEMG SNPs increased the frequency of idiopathic male infertility in Chinese-Han population.
Title: Association of semenogelin (SEMG) gene variants in idiopathic male infertility in Chinese-Han population.
The elevated expression of SEMG1 and reduced expression of miR-525-3p are associated with AZS and male infertility
Title: Expressions of miR-525-3p and its target gene SEMG1 in the spermatozoa of patients with asthenozoospermia.
Data indicate that semenogelin I (Sg I) expression has potential value in predicting renal cell carcinoma (RCC) progression and prognosis, suggesting the use of Sg I as a biomarker for RCC.
Title: Seminal plasma protein in renal cell carcinoma: expression of semenogelin I is a predictor for cancer progression and prognosis.
Peptides from the antimicrobial protein semenogelin I have antibacterial activity.
Title: Identification of novel semenogelin I-derived antimicrobial peptide from liquefied human seminal plasma.
EPPIN and SEMG1 rapidly co-evolved in primates
Title: Interacting proteins on human spermatozoa: adaptive evolution of the binding of semenogelin I to EPPIN.
SEMG1 was significantly changed in asthenozoosperm, which could be the candidate gene for the development of diagnostic marker and provided the opportunity to further illustrate the biological mechanisms of asthenozoospermia.
Title: SEMG1 may be the candidate gene for idiopathic asthenozoospermia.
Three regions of SEM1(86-107) comprise the amyloid fibril core that enhances HIV-1 infection.
Title: Structural characterization of semen coagulum-derived SEM1(86-107) amyloid fibrils that enhance HIV-1 infection.
Interaction analysis identifies semenogelin I fragments as new binding partners of PIP in human seminal plasma
Title: Interaction analysis identifies semenogelin I fragments as new binding partners of PIP in human seminal plasma.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Cellular biotinylated semenogelin I protein (SEMG1) is incorporated into HIV-1 Gag virus-like particles	PubMed

Go to the HIV-1, Human Interaction Database

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
enables zinc ion binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in insemination	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of serine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm capacitation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in nucleus	HDA more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: semenogelin-1

Names: SgI-29; cancer/testis antigen 103; semen coagulating protein; semenogelin I

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_003007.5 → NP_002998.1 semenogelin-1 preproprotein

See identical proteins and their annotated locations for NP_002998.1

Status: REVIEWED

Source sequence(s)

AA687874, BC055416, BP325874, J04440

Consensus CDS

CCDS13345.1

UniProtKB/Swiss-Prot

P04279, Q53ZV0, Q53ZV1, Q53ZV2, Q6X4I9, Q6Y809, Q6Y822, Q6Y823, Q86U64, Q96QM3

Related

ENSP00000361867.3, ENST00000372781.4

Conserved Domains (1) summary

pfam05474
Location:1 → 462

Semenogelin; Semenogelin

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45207033..45209768

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

46942926..46945661

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198139.1: Suppressed sequence

Description

NM_198139.1: This RefSeq was permanently suppressed because the transcript lacked a 180 nt repeat unit in the coding sequence compared to the reference genome sequence.