CRIPT - CXXC repeat containing interactor of PDZ3 domain Gene

Also Known as SSMDF; HSPC139

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9419

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 References 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

Cript: Microtubule-associated protein CRIPT (12 - 101)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03178 CRIPT Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17976 Cript Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24447 Cript Rat Pre-designed siRNA Set A Pre-designed Set / 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