CRIPT - CXXC repeat containing interactor of PDZ3 domain Gene

Homo sapiens

Also known as SSMDF; HSPC139

Gene ID: 9419 | Gene type: protein coding

About CRIPT

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,617,215-46,630,176 (from NCBI)

This gene has 2 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 3.3), adrenal (RPKM 2.2) and 25 other tissues.

Summary

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the Cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

CRIPT Products(1)

mRNA	Protein	Name
NM_014171.6	NP_054890.1	cysteine-rich PDZ-binding protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IDA IDA: Inferred from direct assay	17474715	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11937501	GOA
enables scaffold protein binding	IDA IDA: Inferred from direct assay	17474715	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRIPT Protein Structure

Cript

0
101 a.a.

Protein Preferred Names

Protein Names

cysteine-rich PDZ-binding protein

cysteine-rich interactor of PDZ three

CRIPT Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	CRIPT	Q9P021	DLG4	Homo sapiens	P78352	ELISA	11937501
Intra	CRIPT	Q9P021	DLG4	Homo sapiens	P78352	FPS	11937501
Cross	CRIPT	Q9P021	Dlg3	Rattus norvegicus	Q62936	ELISA	11937501
Cross	CRIPT	Q9P021	Dlg3	Rattus norvegicus	Q62936	FPS	11937501
Cross	CRIPT	Q9P021	Dlg4	Rattus norvegicus	P31016	FPS	11937501

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CRIPT Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75331	CRIPT Protein, Human (His)	Q9P021 (M1-V101)	≥95%

Related Diseases

Diseases

Alias

Short Stature With Microcephaly And Distinctive Facies

SSMCF

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Telecanthus

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Loiasis

Loa Loa Filariasis	Mansonelliasis
African Eye Worm	Mansonella Perstans Infections
Mansonellosis	Eye Worm Disease Of Africa
Loa Loa Infestation	African Eyeworm Disease
Calabar Swelling

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03178	CRIPT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CRIPT	VGNC	VGNC:27712
Felis catus	CRIPT	VGNC	VGNC:61181
Macaca mulatta	CRIPT	VGNC	VGNC:71405
Rattus norvegicus	CRIPT	RGD	RGD:621545
Canis familiaris	CRIPT	VGNC	VGNC:39615
Mus musculus	CRIPT	MGD	MGI:1929655
Macaca fascicularis	CRIPT	NCBI	NCBI:107126364
Leporidae	CRIPT	NCBI
Others	CRIPT	NCBI

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