About   Help   FAQ
Pphln1 Gene Detail
Summary
  • Symbol
    Pphln1
  • Name
    periphilin 1
  • Synonyms
    1110063K05Rik, 1600022A19Rik, CR
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917029
    NCBI Gene: 223828
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:93296231-93389391 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 47.55 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2203 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917029
 protein coding gene Chr15:93296231-93389794 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022256
 protein coding gene Chr15:94811069-94916079 (+)
A/J MGP_AJ_G0022215
 protein coding gene Chr15:91147923-91245651 (+)
AKR/J MGP_AKRJ_G0022190
 protein coding gene Chr15:93875307-93968890 (+)
BALB/cJ MGP_BALBcJ_G0022221
 protein coding gene Chr15:91268711-91362217 (+)
C3H/HeJ MGP_C3HHeJ_G0021991
 protein coding gene Chr15:93877636-93980982 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022666
 protein coding gene Chr15:98272485-98385880 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020192
 protein coding gene Chr15:87191631-87286619 (+)
CAST/EiJ MGP_CASTEiJ_G0021513
 protein coding gene Chr15:94703650-94799041 (+)
CBA/J MGP_CBAJ_G0021958
 protein coding gene Chr15:101589549-101701588 (+)
DBA/2J MGP_DBA2J_G0022085
 protein coding gene Chr15:90573740-90669864 (+)
FVB/NJ MGP_FVBNJ_G0022064
 protein coding gene Chr15:89593941-89687040 (+)
LP/J MGP_LPJ_G0022156
 protein coding gene Chr15:94919896-95017938 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022084
 protein coding gene Chr15:105946488-106044696 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022681
 protein coding gene Chr15:93947751-94053724 (+)
PWK/PhJ MGP_PWKPhJ_G0021254
 protein coding gene Chr15:90625153-90720911 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021088
 protein coding gene Chr15:93692508-93789389 (+)
WSB/EiJ MGP_WSBEiJ_G0021562
 protein coding gene Chr15:94441858-94543442 (+)



Homology
more
  • Human Ortholog
    PPHLN1, periphilin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPHLN1, periphilin 1
  • Synonyms
    CR, HSPC206, HSPC232
  • Links
    NCBI Gene ID: 51535
    neXtProt AC: NX_Q8NEY8
    UniProt: Q8NEY8

  • Chr Location
    12q12; chr12:42238447-42459715 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a gene trap allele die prior to E7.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    773
  • Tissues
    28
  • cDNA Data
    128
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000036167 Ensembl Gene Model | MGI Sequence Detail 93161 C57BL/6J ±  kb
transcript ENSMUST00000049122 Ensembl | MGI Sequence Detail 3573 Not Applicable  
polypeptide ENSMUSP00000042762 Ensembl | MGI Sequence Detail 381 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 132
    cDNA 129
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGI:1916113
References
more
  • Summaries
    All 56
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 6
    Phenotypes 28
  • Earliest
    J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
  • Latest
    J:310903 Gresakova V, et al., Dual role of Fam208a during zygotic cleavage and early embryonic development. Exp Cell Res. 2021 Sep 15;406(2):112723
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory