• Gene id: 8301

Gene Summary

• Gene Symbol: PICALM   Gene   UCSC   Ensembl
• Aliases: CALM, CLTH, LAP
• Gene name: phosphatidylinositol binding clathrin assembly protein
• Alternate names: phosphatidylinositol-binding clathrin assembly protein, clathrin assembly lymphoid myeloid leukemia protein,
• Gene location: 11q14.2 (52493256: 52487175)     Exons: 9     NC_000012.12
• Gene summary(Entrez): This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to
• OMIM: 603025

Protein Summary

• Protein general information: Q13492  
  • Name: Phosphatidylinositol binding clathrin assembly protein (Clathrin assembly lymphoid myeloid leukemia protein)
  • Length: 652  
  • Mass: 70755
  • Tissue specificity: Expressed in all tissues examined. {ECO
• Sequence:

  MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNSSWVVV
  FKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKR
  GADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDM
  KKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLASLEGKKIKDSTAASRAT
  TLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAID
  IFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGDPFSATVDAVDDAIPSLNPFLTKSSGDVHLS
  ISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNL
  PVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAY
  PATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM

• Structural information:
  • Protein Domains: (14..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243"-)
  • Interpro: IPR011417  IPR014712  IPR013809  IPR008942  IPR030412  
  • Prosite: PS50942
  • STRING: ENSP00000377015
• Other Databases: GeneCards:  PICALM  Malacards:  PICALM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IC	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0070381	endosome to plasma membrane transport vesicle	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IPI	molecular function
GO:0007611	learning or memory	ISS	biological process
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0097494	regulation of vesicle size	IMP	biological process
GO:0097753	membrane bending	IMP	biological process
GO:0150093	amyloid-beta clearance by transcytosis	ISS	biological process
GO:2000009	negative regulation of protein localization to cell surface	IMP	biological process
GO:0006900	vesicle budding from membrane	IMP	biological process
GO:0150093	amyloid-beta clearance by transcytosis	ISS	biological process
GO:0150093	amyloid-beta clearance by transcytosis	IGI	biological process
GO:0005905	clathrin-coated pit	IMP	cellular component
GO:0031224	intrinsic component of membrane	ISS	cellular component
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0030136	clathrin-coated vesicle	IMP	cellular component
GO:1902003	regulation of amyloid-beta formation	ISS	NOT|biological process
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0031623	receptor internalization	IMP	biological process
GO:0090647	modulation of age-related behavioral decline	ISS	biological process
GO:0005905	clathrin-coated pit	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0016185	synaptic vesicle budding from presynaptic endocytic zone membrane	IBA	biological process
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0000149	SNARE binding	IBA	molecular function
GO:0005545	1-phosphatidylinositol binding	IBA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0006900	vesicle budding from membrane	IBA	biological process
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0032050	clathrin heavy chain binding	IBA	molecular function
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0098894	extrinsic component of presynaptic endocytic zone membrane	IBA	cellular component
GO:1905224	clathrin-coated pit assembly	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0006897	endocytosis	IDA	biological process
GO:0000149	SNARE binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IEA	molecular function
GO:0005545	1-phosphatidylinositol binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0048268	clathrin coat assembly	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902963	negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IEA	biological process
GO:0150093	amyloid-beta clearance by transcytosis	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0035459	vesicle cargo loading	IEA	biological process
GO:0016188	synaptic vesicle maturation	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:1902961	positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IEA	biological process
GO:0090647	modulation of age-related behavioral decline	IEA	biological process
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0030276	clathrin binding	IDA	molecular function
GO:0032050	clathrin heavy chain binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030122	AP-2 adaptor complex	IDA	colocalizes with
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0030132	clathrin coat of coated pit	IDA	colocalizes with
GO:0030132	clathrin coat of coated pit	IDA	colocalizes with
GO:0032880	regulation of protein localization	IDA	biological process
GO:0048261	negative regulation of receptor-mediated endocytosis	IDA	biological process
GO:0016197	endosomal transport	IMP	biological process
GO:0030100	regulation of endocytosis	IMP	biological process
GO:0031623	receptor internalization	IMP	biological process
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0048268	clathrin coat assembly	IMP	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0048156	tau protein binding	IPI	molecular function
GO:0035459	vesicle cargo loading	IMP	biological process
GO:1902959	regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1902963	negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process	ISS	biological process
GO:0097418	neurofibrillary tangle	IMP	cellular component
GO:0016188	synaptic vesicle maturation	ISS	biological process
GO:1902004	positive regulation of amyloid-beta formation	IMP	biological process
GO:1901216	positive regulation of neuron death	IMP	biological process
GO:0031982	vesicle	ISS	cellular component
GO:1902961	positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	ISS	biological process
GO:0043025	neuronal cell body	IDA	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0055072	iron ion homeostasis	IMP	biological process
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0006898	receptor-mediated endocytosis	IDA	biological process
GO:0030276	clathrin binding	IDA	molecular function
GO:0005545	1-phosphatidylinositol binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
acute myeloid leukemia	PMID:12461747
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray