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Phaf1 Gene Detail
Summary
  • Symbol
    Phaf1
  • Name
    phagosome assembly factor 1
  • Synonyms
    D230025D16Rik, Lin10, MGC:6480, Mytho
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443049
    NCBI Gene: 234678
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:105951779-105979685 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    757 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443049
 protein coding gene Chr8:105951777-105979685 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034029
 protein coding gene Chr8:107484077-107517700 (+)
A/J MGP_AJ_G0034010
 protein coding gene Chr8:103203358-103231211 (+)
AKR/J MGP_AKRJ_G0033936
 protein coding gene Chr8:106183280-106215491 (+)
BALB/cJ MGP_BALBcJ_G0034003
 protein coding gene Chr8:103375884-103403419 (+)
C3H/HeJ MGP_C3HHeJ_G0033715
 protein coding gene Chr8:106931733-106961366 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034523
 protein coding gene Chr8:111430251-111467711 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031465
 protein coding gene Chr8:96353274-96379587 (+)
CAST/EiJ MGP_CASTEiJ_G0033041
 protein coding gene Chr8:106425359-106458806 (+)
CBA/J MGP_CBAJ_G0033688
 protein coding gene Chr8:115037226-115065143 (+)
DBA/2J MGP_DBA2J_G0033843
 protein coding gene Chr8:102547734-102575679 (+)
FVB/NJ MGP_FVBNJ_G0033789
 protein coding gene Chr8:101471140-101499498 (+)
LP/J MGP_LPJ_G0033934
 protein coding gene Chr8:107701636-107729352 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033832
 protein coding gene Chr8:118246928-118275600 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034541
 protein coding gene Chr8:106159146-106189139 (+)
PWK/PhJ MGP_PWKPhJ_G0032742
 protein coding gene Chr8:101933071-101960547 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032583
 protein coding gene Chr8:104833630-104862259 (+)
WSB/EiJ MGP_WSBEiJ_G0033157
 protein coding gene Chr8:106810564-106840819 (+)



Homology
more
  • Human Ortholog
    PHAF1, phagophore assembly factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHAF1, phagophore assembly factor 1
  • Synonyms
    C16orf6, C16orf70, lin-10, LIN10, MYTHO
  • Links
    NCBI Gene ID: 80262
    neXtProt AC: NX_Q9BSU1
    UniProt: Q9BSU1

  • Chr Location
    16q22.1; chr16:67109941-67148544 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    4
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
    716
  • Tissues
    9
  • cDNA Data
    12
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 234678 NCBI Gene Model | MGI Sequence Detail 27907 C57BL/6J ±  kb
transcript NM_001379098 RefSeq | MGI Sequence Detail 2964 C57BL/6  
polypeptide Q922R1 UniProt | EBI | MGI Sequence Detail 422 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 13
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:2384564, MGI:6515788
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:335702 Leduc-Gaudet JP, et al., MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nat Commun. 2023 Mar 2;14(1):1199
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
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory