Entry - *118990 - ITPR-INTERACTING DOMAIN-CONTAINING PROTEIN 2; ITPRID2 - OMIM
 
* 118990

ITPR-INTERACTING DOMAIN-CONTAINING PROTEIN 2; ITPRID2


Alternative titles; symbols

SPERM-SPECIFIC ANTIGEN 2; SSFA2
CLEAVAGE SIGNAL 1; CS1
KRAS-INDUCED ACTIN-INTERACTING PROTEIN; KRAP


HGNC Approved Gene Symbol: ITPRID2

Cytogenetic location: 2q31.3     Genomic coordinates (GRCh38): 2:181,891,730-181,930,738 (from NCBI)


TEXT

Description

Mammalian fertilization involves the fusion of sperm and egg surface membranes resulting in resumption of meiosis. Sperm surface molecules have been shown to be transferred to the egg membrane during fertilization. Thus, the sperm cell can share in or impart antigenic specificities to fertilized ova and cleaving embryos. The molecules that are incorporated into the oocyte may provide an extranuclear signal to the oocyte to cleave. The sperm surface antigen (encoded by CS1) involved in early cleavage of the fertilized oocyte is a doublet of proteins of approximately 14 kD and 18 kD. Antibodies to this protein inhibit early cleavage of the oocyte without affecting pronuclear formation (summary by Javed and Naz, 1992).


Cloning and Expression

Javed and Naz (1992) cloned human CS1 cDNA, which is 1,828 bp long. The start codon assigned to the first ATG (bp 98-100) encoded a protein with 249 amino acid residues terminating at TAA (bp 845-847). The cDNA had a 97-bp 5-prime and a 984-bp 3-prime untranslated region. The potential polyadenylation signal (5-prime--AATAAA) was at bp 1803-1808. No homology was found to any known sequence, indicating that CS1 is a unique protein. In a rabbit reticulocyte in vitro translation system, the transcribed CS1 RNA produced a 33-kD CS1 protein. The 2 parts of the antigen are presumably derived from 1 transcript.


Mapping

Gross (2014) mapped the SSFA2 gene to chromosome 2q31.3 based on an alignment of the SSFA2 sequence (GenBank BC028706) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/24/2014.

  2. Javed, A. A., Naz, R. K. Human cleavage signal-1 protein; cDNA cloning, transcription and immunological analysis. Gene 112: 205-211, 1992. [PubMed: 1555770, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 06/24/2014
Creation Date:
Victor A. McKusick : 6/15/1992
carol : 02/27/2021
mgross : 06/24/2014
alopez : 2/27/2014
alopez : 8/9/2012
terry : 1/31/2001
alopez : 8/19/1999
warfield : 4/6/1994
carol : 6/15/1992

* 118990

ITPR-INTERACTING DOMAIN-CONTAINING PROTEIN 2; ITPRID2


Alternative titles; symbols

SPERM-SPECIFIC ANTIGEN 2; SSFA2
CLEAVAGE SIGNAL 1; CS1
KRAS-INDUCED ACTIN-INTERACTING PROTEIN; KRAP


HGNC Approved Gene Symbol: ITPRID2

Cytogenetic location: 2q31.3     Genomic coordinates (GRCh38): 2:181,891,730-181,930,738 (from NCBI)


TEXT

Description

Mammalian fertilization involves the fusion of sperm and egg surface membranes resulting in resumption of meiosis. Sperm surface molecules have been shown to be transferred to the egg membrane during fertilization. Thus, the sperm cell can share in or impart antigenic specificities to fertilized ova and cleaving embryos. The molecules that are incorporated into the oocyte may provide an extranuclear signal to the oocyte to cleave. The sperm surface antigen (encoded by CS1) involved in early cleavage of the fertilized oocyte is a doublet of proteins of approximately 14 kD and 18 kD. Antibodies to this protein inhibit early cleavage of the oocyte without affecting pronuclear formation (summary by Javed and Naz, 1992).


Cloning and Expression

Javed and Naz (1992) cloned human CS1 cDNA, which is 1,828 bp long. The start codon assigned to the first ATG (bp 98-100) encoded a protein with 249 amino acid residues terminating at TAA (bp 845-847). The cDNA had a 97-bp 5-prime and a 984-bp 3-prime untranslated region. The potential polyadenylation signal (5-prime--AATAAA) was at bp 1803-1808. No homology was found to any known sequence, indicating that CS1 is a unique protein. In a rabbit reticulocyte in vitro translation system, the transcribed CS1 RNA produced a 33-kD CS1 protein. The 2 parts of the antigen are presumably derived from 1 transcript.


Mapping

Gross (2014) mapped the SSFA2 gene to chromosome 2q31.3 based on an alignment of the SSFA2 sequence (GenBank BC028706) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/24/2014.

  2. Javed, A. A., Naz, R. K. Human cleavage signal-1 protein; cDNA cloning, transcription and immunological analysis. Gene 112: 205-211, 1992. [PubMed: 1555770] [Full Text: https://doi.org/10.1016/0378-1119(92)90377-2]


Contributors:
Matthew B. Gross - updated : 06/24/2014

Creation Date:
Victor A. McKusick : 6/15/1992

Edit History:
carol : 02/27/2021
mgross : 06/24/2014
alopez : 2/27/2014
alopez : 8/9/2012
terry : 1/31/2001
alopez : 8/19/1999
warfield : 4/6/1994
carol : 6/15/1992