Picalm phosphatidylinositol binding clathrin assembly protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Picalmprovided by MGI
Official Full Name: phosphatidylinositol binding clathrin assembly proteinprovided by MGI
Primary source: MGI:MGI:2385902
See related: Ensembl:ENSMUSG00000039361 AllianceGenome:MGI:2385902
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CALM; CLTH; fit1; fit-1; PAP180; mKIAA4114
Summary: Predicted to enable several functions, including SH3 domain binding activity; clathrin heavy chain binding activity; and phosphatidylinositol binding activity. Involved in several processes, including amyloid-beta clearance by transcytosis; neuron projection morphogenesis; and regulation of amyloid precursor protein catabolic process. Located in clathrin-coated pit and vesicle. Colocalizes with perinuclear region of cytoplasm. Is expressed in several structures, including aorta; heart; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in acute myeloid leukemia. Orthologous to human PICALM (phosphatidylinositol binding clathrin assembly protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14 (RPKM 62.1), liver E14.5 (RPKM 55.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D3; 7 50.47 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (89778711..89858655)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (90130192..90209447)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-155-5p promotes hepatic steatosis via PICALM-mediated autophagy in aging hepatocytes.
Title: miR-155-5p promotes hepatic steatosis via PICALM-mediated autophagy in aging hepatocytes.
Picalm reduction exacerbates tau pathology in a murine tauopathy model.
Title: Picalm reduction exacerbates tau pathology in a murine tauopathy model.
Confinement within the presynaptic bouton is mediated in part by synaptic vesicle protein association with the clathrin-based endocytic machinery to limit diffusional spread of newly exocytosed SV proteins.
Title: Diffusional spread and confinement of newly exocytosed synaptic vesicle proteins.
the PICALM PIP2 binding domain is necessary for transferrin receptor endocytosis in erythroblasts and absolutely essential for erythroid development from mouse hematopoietic stem/progenitor cells in an erythroid culture system.
Title: Role of the clathrin adaptor PICALM in normal hematopoiesis and polycythemia vera pathophysiology.
During leukemogenesis, CALM-AF10 plays critical roles in the cytoplasm.
Title: Nuclear export signal within CALM is necessary for CALM-AF10-induced leukemia.
These data reveal that PICALM plays a critical role in iron homeostasis.
Title: The PICALM protein plays a key role in iron homeostasis and cell proliferation.
PICALM, an adaptor protein involved in clathrin-mediated endocytosis, regulates APP internalization and subsequent Abeta generation. PICALM contributes to amyloid plaque load in brain likely via its effect on Abeta metabolism.
Title: Role of phosphatidylinositol clathrin assembly lymphoid-myeloid leukemia (PICALM) in intracellular amyloid precursor protein (APP) processing and amyloid plaque pathogenesis.
These results indicate that CALM is required for erythroid maturation and transferrin internalization in mice.
Title: The clathrin assembly protein PICALM is required for erythroid maturation and transferrin internalization in mice.
In leukemia cells, full-length CALM-AF10 localized to the nucleus with no consistent effect on growth factor endocyctosis, and suppressed histone H3 lysine 79 methylation regardless of the presence of clathrin
Title: The clathrin-binding domain of CALM-AF10 alters the phenotype of myeloid neoplasms in mice.
the Rarb region of Mmu14 and Stmn2, but not Cr1 or Clu or Picalm have roles in prion disease
Title: The retinoic acid receptor beta (Rarb) region of Mmu14 is associated with prion disease incubation time in mouse.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (5) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7Mit32 (e-PCR), detects polymorphism
- UniSTS:131221

RH66557 (e-PCR)
- UniSTS:37278

RH136706 (e-PCR)
- UniSTS:218795

SHGC-24065 (e-PCR)
- UniSTS:82095

NoName (e-PCR)
- UniSTS:235707

Picalm (e-PCR), detects polymorphism
- UniSTS:507384

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables SNARE binding	ISO Inferred from Sequence Orthology more info
enables clathrin binding	ISO Inferred from Sequence Orthology more info
enables clathrin heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin heavy chain binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables tau protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance by transcytosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid-beta clearance by transcytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta clearance by transcytosis	ISO Inferred from Sequence Orthology more info
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in clathrin coat assembly	ISO Inferred from Sequence Orthology more info
involved_in clathrin-dependent endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin-dependent endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in membrane bending	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to cell surface	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of amyloid precursor protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic vesicle clustering	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of amyloid-beta formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of terminal button organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle size	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle budding from presynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle budding from membrane	ISO Inferred from Sequence Orthology more info
involved_in vesicle cargo loading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle cargo loading	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
part_of clathrin coat of coated pit	ISO Inferred from Sequence Orthology more info
is_active_in clathrin-coated pit	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome to plasma membrane transport vesicle	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of presynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extrinsic component of presynaptic endocytic zone membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neurofibrillary tangle	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	ISO Inferred from Sequence Orthology more info
colocalizes_with perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol-binding clathrin assembly protein

Names: clathrin assembly lymphoid myeloid leukemia

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001252520.3 → NP_001239449.1 phosphatidylinositol-binding clathrin assembly protein isoform 2

See identical proteins and their annotated locations for NP_001239449.1

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS85335.1

UniProtKB/TrEMBL

Q570Z8

Related

ENSMUSP00000051092.9, ENSMUST00000049537.9

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19
NM_001252521.3 → NP_001239450.1 phosphatidylinositol-binding clathrin assembly protein isoform 3

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS85334.1

UniProtKB/TrEMBL

Q570Z8

Related

ENSMUSP00000147016.2, ENSMUST00000208742.2

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19
NM_001252522.3 → NP_001239451.1 phosphatidylinositol-binding clathrin assembly protein isoform 4

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS85336.1

UniProtKB/TrEMBL

Q570Z8

Related

ENSMUSP00000146386.2, ENSMUST00000209068.2

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19
NM_001252523.3 → NP_001239452.1 phosphatidylinositol-binding clathrin assembly protein isoform 5

See identical proteins and their annotated locations for NP_001239452.1

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS85337.1

UniProtKB/TrEMBL

Q570Z8

Related

ENSMUSP00000146541.2, ENSMUST00000208730.2

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19
NM_001252524.3 → NP_001239453.1 phosphatidylinositol-binding clathrin assembly protein isoform 6

See identical proteins and their annotated locations for NP_001239453.1

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS85338.1

UniProtKB/TrEMBL

Q3TD51, Q570Z8

Related

ENSMUSP00000146659.2, ENSMUST00000207225.2

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19
NM_001360867.2 → NP_001347796.1 phosphatidylinositol-binding clathrin assembly protein isoform 7

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (2) summary

COG4223
Location:268 → 366

COG4223; Uncharacterized conserved protein [Function unknown]

pfam07651
Location:24 → 282

ANTH; ANTH domain
NM_001420463.1 → NP_001407392.1 phosphatidylinositol-binding clathrin assembly protein isoform 8

Status: VALIDATED

Source sequence(s)

AC130210, AC158781
NM_001420464.1 → NP_001407393.1 phosphatidylinositol-binding clathrin assembly protein isoform 9

Status: VALIDATED

Source sequence(s)

AC130210, AC158781
NM_001420465.1 → NP_001407394.1 phosphatidylinositol-binding clathrin assembly protein isoform 10

Status: VALIDATED

Source sequence(s)

AC130210, AC158781
NM_001420466.1 → NP_001407395.1 phosphatidylinositol-binding clathrin assembly protein isoform 11

Status: VALIDATED

Source sequence(s)

AC130210, AC158781
NM_001420467.1 → NP_001407396.1 phosphatidylinositol-binding clathrin assembly protein isoform 12

Status: VALIDATED

Source sequence(s)

AC130210, AC158781
NM_001420468.1 → NP_001407397.1 phosphatidylinositol-binding clathrin assembly protein isoform 13

Status: VALIDATED

Source sequence(s)

AC130210
NM_146194.6 → NP_666306.2 phosphatidylinositol-binding clathrin assembly protein isoform 1

See identical proteins and their annotated locations for NP_666306.2

Status: VALIDATED

Source sequence(s)

AC130210, AC158781

Consensus CDS

CCDS52307.1

UniProtKB/Swiss-Prot

Q3TS04, Q7M6Y3, Q811P1, Q8BUF6, Q8CIH8, Q8R0A9, Q8R3E1, Q8VDN5, Q921L0

UniProtKB/TrEMBL

Q570Z8

Related

ENSMUSP00000146501.2, ENSMUST00000207484.2

Conserved Domains (2) summary

pfam07651
Location:19 → 282

ANTH; ANTH domain

pfam08287
Location:265 → 344

DASH_Spc19; Spc19

RNA

NR_185178.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC130210
NR_185179.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC130210

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

89778711..89858655

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507594.5 → XP_006507657.1 phosphatidylinositol-binding clathrin assembly protein isoform X1

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (1) summary

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507598.5 → XP_006507661.1 phosphatidylinositol-binding clathrin assembly protein isoform X5

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (1) summary

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507596.5 → XP_006507659.1 phosphatidylinositol-binding clathrin assembly protein isoform X3

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (1) summary

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507599.5 → XP_006507662.1 phosphatidylinositol-binding clathrin assembly protein isoform X6

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (1) summary

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507600.5 → XP_006507663.1 phosphatidylinositol-binding clathrin assembly protein isoform X7

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (1) summary

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507602.5 → XP_006507665.1 phosphatidylinositol-binding clathrin assembly protein isoform X10

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (2) summary

COG4223
Location:268 → 366

COG4223; Uncharacterized conserved protein [Function unknown]

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507604.5 → XP_006507667.1 phosphatidylinositol-binding clathrin assembly protein isoform X12

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (2) summary

COG4223
Location:268 → 366

COG4223; Uncharacterized conserved protein [Function unknown]

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507603.5 → XP_006507666.1 phosphatidylinositol-binding clathrin assembly protein isoform X11

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (2) summary

COG4223
Location:268 → 366

COG4223; Uncharacterized conserved protein [Function unknown]

pfam07651
Location:24 → 283

ANTH; ANTH domain
XM_006507605.5 → XP_006507668.1 phosphatidylinositol-binding clathrin assembly protein isoform X13

UniProtKB/TrEMBL

Q570Z8

Conserved Domains (2) summary

COG4223
Location:268 → 366

COG4223; Uncharacterized conserved protein [Function unknown]

pfam07651
Location:24 → 283

ANTH; ANTH domain