Picalm Gene Detail

Summary

• Symbol
  Picalm
• Name
  phosphatidylinositol binding clathrin assembly protein
• Synonyms
  fit1, fit-1, MGC:19382, MGC:36413, MGC:36616

• Feature Type
  protein coding gene
• IDs
  MGI:2385902
  NCBI Gene: 233489
• Alliance
  gene page
• Transcription Start Sites
  50 TSS

Location &
Maps

• Sequence Map
  Chr7:89779418-89858655 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 7, 50.47 cM
• Mapping Data
  6 experiments

Strain
Comparison

• SNPs within 2kb
  386 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2385902	protein coding gene	Chr7:89779418-89862673 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032503	protein coding gene	Chr7:92541489-92623115 (+)
A/J	MGP_AJ_G0032477	protein coding gene	Chr7:90316553-90397901 (+)
AKR/J	MGP_AKRJ_G0032413	protein coding gene	Chr7:92415467-92511983 (+)
BALB/cJ	MGP_BALBcJ_G0032488	protein coding gene	Chr7:89963031-90043081 (+)
C3H/HeJ	MGP_C3HHeJ_G0032203	protein coding gene	Chr7:92816270-92899541 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032986	protein coding gene	Chr7:96155684-96241018 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029981	protein coding gene	Chr7:93208195-93291086 (+)
CAST/EiJ	MGP_CASTEiJ_G0031530	protein coding gene	Chr7:84250215-84331347 (+)
CBA/J	MGP_CBAJ_G0032170	protein coding gene	Chr7:99359834-99447041 (+)
DBA/2J	MGP_DBA2J_G0032322	protein coding gene	Chr7:88741887-88823737 (+)
FVB/NJ	MGP_FVBNJ_G0032278	protein coding gene	Chr7:88614875-88697316 (+)
LP/J	MGP_LPJ_G0032411	protein coding gene	Chr7:93788000-93882509 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032312	protein coding gene	Chr7:100355244-100455403 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033008	protein coding gene	Chr7:91705641-91786221 (+)
PWK/PhJ	MGP_PWKPhJ_G0031248	protein coding gene	Chr7:81781664-81866083 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031091	protein coding gene	Chr7:79027898-79120351 (+)
WSB/EiJ	MGP_WSBEiJ_G0031647	protein coding gene	Chr7:92378682-92460594 (+)

Homology

• Human Ortholog
  PICALM, phosphatidylinositol binding clathrin assembly protein

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  PICALM, phosphatidylinositol binding clathrin assembly protein
  
• Synonyms
  CALM, CLTH, LAP
• Links
  HGNC:15514

  NCBI Gene ID: 8301

  neXtProt AC: NX_Q13492

  UniProt: Q13492

  
  
• Chr Location
  11q14.2; chr11:85957171-86069881 (-)  GRCh38.p7

---

• Alliance of Genome Resources
  Picalm stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: PICALM
• Gene Tree
  Picalm
  

Human Diseases

• Diseases
  1 with human PICALM associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia       DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  42 phenotypes from 8 alleles in 7 genetic backgrounds
  14 phenotypes from multigenic genotypes
  1 images
  46 phenotype references
  

• All Mutations and Alleles
  33
• Chemically induced (ENU)
  5
• Chemically induced (other)
  1
• Endonuclease-mediated
  4
• Gene trapped
  16
• Radiation induced
  3
• Targeted
  4
• Genomic Mutations
  4 involving Picalm
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  35 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  107
• GO References
  12

Expression

• Assay Results
  723
• Tissues
  10
• cDNA Data
  13
• Literature Summary
  4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase picalm, picalml
  ZFIN picalma, picalmb

Interactions

• Picalm interacts with 404 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

Sequences &
Gene Models

• All Sequences
  115
• RefSeq
  42
• UniProt
  6
• CCDS
  CCDS52307.1, CCDS85334.1, CCDS85335.1, CCDS85336.1, CCDS85337.1, CCDS85338.1

• Ensembl
  ENSMUSG00000039361 (Evidence)
• NCBI Gene
  233489

Representative Sequences			Length	Strain/Species
genomic	233489	NCBI Gene Model | MGI Sequence Detail	79238	C57BL/6J
transcript	NM_146194	RefSeq | MGI Sequence Detail	4193	C57BL/6
polypeptide	Q7M6Y3	UniProt | EBI | MGI Sequence Detail	660	Not Applicable

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000029674 phosphatidylinositol-binding clathrin assembly protein
  (term hierarchy)
• InterPro Domains
  IPR014712 ANTH domain superfamily
  IPR011417 AP180 N-terminal homology (ANTH) domain
  IPR045192 Clathrin coat assembly protein AP180-like
  IPR013809 ENTH domain
  IPR008942 ENTH/VHS

Molecular
Reagents

• All nucleic 19

  Genomic 2

  cDNA 14

  Primer pair 1

  Other 2

  
  

  Microarray probesets 4

Other
Accession IDs

MGD-MRK-9805, MGD-MRK-9806, MGI:95538

References

• Summaries
  All 84

  Developmental Gene Expression 4

  Diseases 1

  Gene Ontology 12

  Phenotypes 46
• Earliest
  J:141526 Russell LB, et al., Analysis of the albino-locus region of the mouse. III. Time of death of prenatal lethals. Genetics. 1979 May;92(1):205-13
• Latest
  J:325702 Azarnia Tehran D, et al., Selective endocytosis of Ca(2+)-permeable AMPARs by the Alzheimer's disease risk factor CALM bidirectionally controls synaptic plasticity. Sci Adv. 2022 May 27;8(21):eabl5032

TSS for Picalm:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67694	Chr7:89779269-89779292 (+)	-137 bp
Tssr67695	Chr7:89779318-89779329 (+)	-94 bp
Tssr67696	Chr7:89779435-89779487 (+)	43 bp
Tssr67697	Chr7:89779493-89779508 (+)	83 bp
Tssr67698	Chr7:89779564-89779575 (+)	152 bp
Tssr67699	Chr7:89780315-89780342 (+)	911 bp
Tssr67700	Chr7:89780397-89780401 (+)	981 bp
Tssr67703	Chr7:89786902-89786931 (+)	7,499 bp
Tssr67704	Chr7:89789221-89789254 (+)	9,820 bp
Tssr67705	Chr7:89792420-89792423 (+)	13,004 bp
Tssr67711	Chr7:89800714-89800724 (+)	21,301 bp
Tssr67712	Chr7:89802492-89802494 (+)	23,075 bp
Tssr67713	Chr7:89802581-89802588 (+)	23,167 bp
Tssr67714	Chr7:89802726-89802743 (+)	23,317 bp
Tssr67715	Chr7:89802761-89802777 (+)	23,351 bp
Tssr67716	Chr7:89802810-89802834 (+)	23,404 bp
Tssr67717	Chr7:89809698-89809723 (+)	30,293 bp
Tssr67718	Chr7:89809734-89809759 (+)	30,329 bp
Tssr67719	Chr7:89810458-89810513 (+)	31,068 bp
Tssr67720	Chr7:89812269-89812282 (+)	32,858 bp
Tssr67721	Chr7:89812321-89812365 (+)	32,925 bp
Tssr67722	Chr7:89813299-89813303 (+)	33,883 bp
Tssr67723	Chr7:89814713-89814756 (+)	35,317 bp
Tssr67724	Chr7:89815260-89815274 (+)	35,849 bp
Tssr67725	Chr7:89815305-89815316 (+)	35,893 bp
Tssr67726	Chr7:89815318-89815331 (+)	35,907 bp
Tssr67727	Chr7:89815382-89815395 (+)	35,971 bp
Tssr67728	Chr7:89817509-89817518 (+)	38,096 bp
Tssr67729	Chr7:89817658-89817663 (+)	38,243 bp
Tssr67730	Chr7:89825482-89825496 (+)	46,071 bp
Tssr67731	Chr7:89825518-89825540 (+)	46,111 bp
Tssr67732	Chr7:89825942-89825956 (+)	46,531 bp
Tssr67733	Chr7:89831575-89831592 (+)	52,166 bp
Tssr67734	Chr7:89831950-89831964 (+)	52,539 bp
Tssr67735	Chr7:89832026-89832039 (+)	52,615 bp
Tssr67736	Chr7:89832157-89832170 (+)	52,746 bp
Tssr67737	Chr7:89832229-89832341 (+)	52,867 bp
Tssr67738	Chr7:89832358-89832362 (+)	52,942 bp
Tssr67739	Chr7:89832954-89832977 (+)	53,548 bp
Tssr67741	Chr7:89840901-89840914 (+)	61,490 bp
Tssr67742	Chr7:89843544-89843547 (+)	64,128 bp
Tssr67743	Chr7:89844660-89844671 (+)	65,248 bp
Tssr67744	Chr7:89845200-89845222 (+)	65,793 bp
Tssr67745	Chr7:89856843-89856860 (+)	77,434 bp
Tssr67746	Chr7:89856933-89856940 (+)	77,519 bp
Tssr67747	Chr7:89856949-89856970 (+)	77,542 bp
Tssr67748	Chr7:89857029-89857045 (+)	77,619 bp
Tssr67749	Chr7:89857113-89857124 (+)	77,701 bp
Tssr67750	Chr7:89857977-89857991 (+)	78,566 bp
Tssr67751	Chr7:89858207-89858218 (+)	78,795 bp