SPESP1 sperm equatorial segment protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPESP1provided by HGNC
Official Full Name: sperm equatorial segment protein 1provided by HGNC
Primary source: HGNC:HGNC:15570
See related: Ensembl:ENSG00000258484 MIM:609399; AllianceGenome:HGNC:15570
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: ESP; SP-ESP
Summary: The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]
Expression: Biased expression in testis (RPKM 44.1), placenta (RPKM 5.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q23

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (68930525..68946811)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (66753043..66769335)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (69222864..69239150)

Chromosome 15 - NC_000015.10 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?

Testosterone enhances taurine synthesis by upregulating androgen receptor and cysteine sulfinic acid decarboxylase expressions in male mouse liver.
Title: Testosterone enhances taurine synthesis by upregulating androgen receptor and cysteine sulfinic acid decarboxylase expressions in male mouse liver.
A stealth antigen SPESP1, which is epigenetically silenced in tumors, is a suitable target for cancer immunotherapy.
Title: A stealth antigen SPESP1, which is epigenetically silenced in tumors, is a suitable target for cancer immunotherapy.
human alloantigen involved in sperm-egg binding and fusion
Title: Equatorial segment protein (ESP) is a human alloantigen involved in sperm-egg binding and fusion.
Equatorial segment protein (ESP), a novel 349-amino acid concanavalin-A-binding protein encoded by a two-exon gene (SP-ESP) located on chromosome 15 at q22, has been localized to the equatorial segment of ejaculated human sperm.
Title: Equatorial segment protein defines a discrete acrosomal subcompartment persisting throughout acrosomal biogenesis.

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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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Readthrough SPESP1-NOX5

Readthrough gene: SPESP1-NOX5, Included gene: NOX5

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in acrosome reaction	IBA Inferred from Biological aspect of Ancestor more info
involved_in fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm-egg recognition	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: sperm equatorial segment protein 1

Names: equatorial segment protein; glycosylated 38 kDa sperm protein C-7/8

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.