CRISP1 cysteine rich secretory protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRISP1provided by HGNC
Official Full Name: cysteine rich secretory protein 1provided by HGNC
Primary source: HGNC:HGNC:304
See related: Ensembl:ENSG00000124812 MIM:601193; AllianceGenome:HGNC:304
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: ARP; AEGL1; HUMARP; CRISP-1; HEL-S-57; HSCRISP1D; HSCRISP1G
Summary: Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (49834257..49877096, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (49676220..49719057, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (49801970..49844809, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization.
Title: The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization.
Epididymal CRISP1 mediates sperm-zona pellucida binding through its interaction with ZP3.
Title: Human fertilization: epididymal hCRISP1 mediates sperm-zona pellucida binding through its interaction with ZP3.
Seminal CRISP1 combined with neutral alpha glucosidase activity can potentially distinguish between obstructive and nonobstructive azoospermia.
Title: Cysteine-rich secretory protein 1 in seminal plasma: potential biomarker for the distinction between obstructive and nonobstructive azoospermia.
CRISP1 was in the seminal plasma of normal and vasovasostomized men, but not in that of vasectomized men. The soluble concentration of CRISP1 was significantly higher in the seminal plasma of vasovasostomized men as compared with that from normal men.
Title: Vasectomy affects cysteine-rich secretory protein expression along the human epididymis and its association with ejaculated spermatozoa following vasectomy surgical reversal.

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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

RH80559 (e-PCR)
- UniSTS:90398

SHGC-68799 (e-PCR)
- UniSTS:100687

NoName (e-PCR)
- UniSTS:486005

STS-X95237 (e-PCR)
- UniSTS:36213

AEGL1 (e-PCR)
- UniSTS:479934

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	IBA Inferred from Biological aspect of Ancestor more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of acrosome reaction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: cysteine-rich secretory protein 1

Names: AEG-like protein; AEG-related protein; acidic epididymal glycoprotein homolog; acidic epididymal glycoprotein-like 1; cysteine-rich secretory protein-1 delta; epididymis secretory protein Li 57

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_001131.3 → NP_001122.2 cysteine-rich secretory protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001122.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.

Source sequence(s)

AL359458

Consensus CDS

CCDS4931.1

UniProtKB/Swiss-Prot

B5BU98, O00698, P54107, Q13248, Q14082, Q96SF6

UniProtKB/TrEMBL

A0A0K0K1I1, A8K8Y2

Related

ENSP00000338276.4, ENST00000335847.9

Conserved Domains (2) summary

cd05383
Location:39 → 177

SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...

pfam08562
Location:195 → 249

Crisp; Crisp
NM_001205220.2 → NP_001192149.1 cysteine-rich secretory protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001192149.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal non-coding exon, thus differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AL359458, BC028577, X95237

Consensus CDS

CCDS4931.1

UniProtKB/Swiss-Prot

B5BU98, O00698, P54107, Q13248, Q14082, Q96SF6

UniProtKB/TrEMBL

A0A0K0K1I1, A8K8Y2

Related

ENSP00000427589.1, ENST00000505118.1

Conserved Domains (2) summary

cd05383
Location:39 → 177

SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...

pfam08562
Location:195 → 249

Crisp; Crisp
NM_170609.2 → NP_733758.1 cysteine-rich secretory protein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_733758.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. This results in a frame-shift, early translation termination, and a shorter isoform (2, also known as CRISP-1 delta) compared to isoform 1.

Source sequence(s)

AL359458

Consensus CDS

CCDS4932.1

UniProtKB/Swiss-Prot

P54107

Related

ENSP00000425020.1, ENST00000507853.5

Conserved Domains (1) summary

cd05383
Location:39 → 178

SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

49834257..49877096 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010320.3 → XP_016865809.1 cysteine-rich secretory protein 1 isoform X1

Conserved Domains (2) summary

pfam08562
Location:93 → 147

Crisp; Crisp

cl00133
Location:1 → 75

SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...
XM_011514315.4 → XP_011512617.1 cysteine-rich secretory protein 1 isoform X1

Conserved Domains (2) summary

pfam08562
Location:93 → 147

Crisp; Crisp

cl00133
Location:1 → 75

SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...
XM_017010321.3 → XP_016865810.1 cysteine-rich secretory protein 1 isoform X1

Conserved Domains (2) summary

pfam08562
Location:93 → 147

Crisp; Crisp

cl00133
Location:1 → 75

SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...