SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000446 
UniProt Accession
Theoretical PI
5.34  
Molecular Weight
46600 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
PICK1 
Gene Synonyms/Alias
PRKCABP 
Protein Name
PRKCA-binding protein 
Protein Synonyms/Alias
Protein interacting with C kinase 1; Protein kinase C-alpha-binding protein; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:22;38452318-38471708;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans. 
The information of related literatures
1. G. Liu, Q. W. Shi and G. X. Lu (2010) A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 12(4): 556-60. 

Abstract
Globozoospermia is a human infertility syndrome caused by spermatogenesis defects (OMIM 102530). Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc (Golgi-associated PDZ and coiled-coil motif containing protein), Hrb (HIV-1 Rev binding protein), Csnk2a2 (casein kinase 2, alpha prime polypeptide) and Pick1 (protein interacting with C kinase 1), results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes mentioned above in three globozoospermia type I patients and discovered a homozygous missense mutation (G198A) in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans. PMID: [20562896] 

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Figures for illustrating the function of this protein/gene
Function
Probable adapter protein that bind to and organize thesubcellular localization of a variety of membrane proteinscontaining some PDZ recognition sequence. Involved in theclustering of various receptors, possibly by acting at thereceptor internalization level. Plays a role in synapticplasticity by regulating the trafficking and internalization ofAMPA receptors. May be regulated upon PRKCA activation. Mayregulate heteromeric ASIC1/ASIC3 channel. 
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Subcellular Location
Cytoplasm, perinuclear region. Celljunction, synapse. Note=Also present at excitatory synapses. 
Tissue Specificity
Ubiquitous. 
Gene Ontology
GO IDGO termEvidence
GO:0030054 C:cell junction IEA:UniProtKB-KW.
GO:0030666 C:endocytic vesicle membrane TAS:Reactome.
GO:0005794 C:Golgi apparatus ISS:UniProtKB.
GO:0005739 C:mitochondrion IEA:Compara.
GO:0048471 C:perinuclear region of cytoplasm ISS:UniProtKB.
GO:0005886 C:plasma membrane IDA:UniProtKB.
GO:0014069 C:postsynaptic density IEA:Compara.
GO:0042734 C:presynaptic membrane IDA:UniProtKB.
GO:0043234 C:protein complex IEA:Compara.
GO:0019717 C:synaptosome IEA:Compara.
GO:0016887 F:ATPase activity ISS:UniProtKB.
GO:0046872 F:metal ion binding IEA:UniProtKB-KW.
GO:0043045 P:DNA methylation involved in embryo development NAS:UniProtKB.
GO:0043046 P:DNA methylation involved in gamete generation TAS:UniProtKB.
GO:0015844 P:monoamine transport IDA:UniProtKB.
GO:0045161 P:neuronal ion channel clustering TAS:UniProtKB.
GO:0007205 P:protein kinase C-activating G-protein coupled receptor signaling pathway IDA:UniProtKB.
GO:0006468 P:protein phosphorylation ISS:UniProtKB.
GO:0006605 P:protein targeting IEA:Compara.
GO:0043113 P:receptor clustering ISS:UniProtKB.
GO:0006890 P:retrograde vesicle-mediated transport, Golgi to ER NAS:UniProtKB.
GO:0007268 P:synaptic transmission TAS:Reactome.
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Interpro
IPR010504;    Arfaptin_homology_dom.
IPR001478;    PDZ.
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Pfam
PF06456;    Arfaptin;    1.
PF00595;    PDZ;    1.
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SMART
SM01015;    Arfaptin;    1.
SM00228;    PDZ;    1.
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PROSITE
PS50870;    AH;    1.
PS50106;    PDZ;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    415       PRKCA-binding protein.
                             /FTId=PRO_0000058427.
DOMAIN       22    105       PDZ.
DOMAIN      144    357       AH.
COMPBIAS    382    388       Poly-Glu.
METAL        44     44       Zinc (By similarity).
METAL        46     46       Zinc (By similarity).
MOD_RES      18     18       Phosphothreonine.
MOD_RES      82     82       Phosphothreonine.
MUTAGEN      27     28       KD->AA: Abolishes interaction with other
                             proteins, but not with itself.
MUTAGEN      27     27       K->E: Abolishes interaction with GRIA2,
                             but not with PRKCA.
CONFLICT      7      7       Y -> F (in Ref. 2; AAF97502).
CONFLICT     16     16       Missing (in Ref. 2; AAF97502).
CONFLICT    236    236       N -> NI (in Ref. 2; AAF97502).
STRAND       21     26
STRAND       34     39
STRAND       47     52
HELIX        57     61
STRAND       69     73
HELIX        83     92
STRAND       95    102
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Nucleotide Sequence
Length: 2018 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 415 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
SLC6A3BioGRID 
GRM3BioGRID 
PRLHRBioGRID 
_BioGRID 
GRIK3BioGRID 
ACCN1IntAct 
ACCN2BioGRID 
APTXMINT 
ARF1HPRD 
ARF3HPRD 
ATXN7L3MINT 
ATXN3HPRD 
ATXN7MINT 
_HPRD 
PICK1HPRD 
_HPRD 
PRKCABioGRID 
GRM7HPRD 
CDIPTString 
CICMINT 
COILHPRD 
GRIK2BioGRID 
EBNA1MINT 
EFNB2HPRD 
EPHB2HPRD 
ERBB2BioGRID 
FXNHPRD 
GFI1BHPRD 
GFI1HPRD 
GRIA1BioGRID 
GRIA2HPRD 
GRIA3HPRD 
GRIA4HPRD 
GRIK1BioGRID 
GRIK2BioGRID 
GRIK3BioGRID 
GRM3BioGRID 
GRM7HPRD 
PRKCABioGRID 
PRKCGHPRD 
ERBB2IPBioGRID 
POLDIP3String 
SLC6A3HPRD 
GRM3HPRD 
PRLHRHPRD 
_HPRD 
GRIK3BioGRID 
ACCN1HPRD 
ACCN2HPRD 
APTXHPRD 
ATXN7L3HPRD 
ATXN3IntAct 
ATXN7IntAct 
_BioGRID 
PICK1HPRD 
PRKCAHPRD 
GRM7BioGRID 
BNC1BioGRID 
BTG2HPRD 
CDIPTString 
CICHPRD 
COILIntAct 
CTNNB1HPRD 
GRIK2HPRD 
ACCN1HPRD 
EBNA1IntAct 
EFNB1HPRD 
ERBB2HPRD 
FXNIntAct 
GFI1BIntAct 
GFI1IntAct 
GRIA1HPRD 
GRIA2BioGRID 
GRIA3BioGRID 
GRIA4BioGRID 
GRIK1HPRD 
GRIK2HPRD 
GRIK3BioGRID 
GRIP1HPRD 
GRM3HPRD 
GRM7BioGRID 
JAM3HPRD 
PRKCAHPRD 
PRKCGIntAct 
LRP2BPHPRD 
POLDIP3String 
PICK1HPRD 
PICK1HPRD 
PRLHRHPRD 
PVRL2HPRD 
PVRL4HPRD 
GRIA3BioGRID 
GRIA4BioGRID 
_BioGRID 
_HPRD 
APTXHPRD 
PRKCAHPRD 
GRIA4BioGRID 
GRIK2HPRD 
SACSHPRD 
SLC6A2MINT 
SLC6A3HPRD 
UBQLN4HPRD 
_MINT 
PRLHRBioGRID 
GRIA3HPRD 
GRIA4HPRD 
_BioGRID 
_BioGRID 
_HPRD 
PRKCABioGRID 
GRIA4HPRD 
GRIK2BioGRID 
SACSMINT 
SLC6A2MINT 
SLC6A3BioGRID 
SLC6A4MINT 
USP7HPRD 
UBQLN4MINT 
BBRF2MINT 
Other Protein-Protein interaction resources
String database  
View Microarray data
Temporarily unavailable 
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