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Mtpap Gene Detail
Summary
  • Symbol
    Mtpap
  • Name
    mitochondrial poly(A) polymerase
  • Synonyms
    0610027A18Rik, Papd1, Tent6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914690
    NCBI Gene: 67440
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:4375592-4397330 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 2.77 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    660 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914690
 protein coding gene Chr18:4375573-4399888 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024123
 protein coding gene Chr18:1220857-1243969 (+)
A/J MGP_AJ_G0024085
 protein coding gene Chr18:1259635-1281494 (+)
AKR/J MGP_AKRJ_G0024053
 protein coding gene Chr18:1242424-1264122 (+)
BALB/cJ MGP_BALBcJ_G0024085
 protein coding gene Chr18:1244789-1267297 (+)
C3H/HeJ MGP_C3HHeJ_G0023850
 protein coding gene Chr18:1218749-1240487 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024530
 protein coding gene Chr18:1356968-1378706 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021969
 protein coding gene Chr18:1079935-1098853 (+)
CAST/EiJ MGP_CASTEiJ_G0023329
 protein coding gene Chr18:1188189-1212566 (+)
CBA/J MGP_CBAJ_G0023824
 protein coding gene Chr18:1315540-1337278 (+)
DBA/2J MGP_DBA2J_G0023952
 protein coding gene Chr18:1189015-1210673 (+)
FVB/NJ MGP_FVBNJ_G0023918
 protein coding gene Chr18:1176886-1198584 (+)
LP/J MGP_LPJ_G0024036
 protein coding gene Chr18:1307872-1329610 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023946
 protein coding gene Chr18:1336455-1358193 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024575
 protein coding gene Chr18:1193208-1214946 (+)
PWK/PhJ MGP_PWKPhJ_G0023074
 protein coding gene Chr18:1191284-1213771 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022885
 protein coding gene Chr18:1465641-1487832 (+)
WSB/EiJ MGP_WSBEiJ_G0023395
 protein coding gene Chr18:1220066-1241804 (+)



Homology
more
  • Human Ortholog
    MTPAP, mitochondrial poly(A) polymerase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTPAP, mitochondrial poly(A) polymerase
  • Synonyms
    PAPD1, SPAX4, TENT6
  • Links
    NCBI Gene ID: 55149
    neXtProt AC: NX_Q9NVV4
    UniProt: Q9NVV4

  • Chr Location
    10p11.23; chr10:30309801-30374448 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MTPAP associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    1 images
    10 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 knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete embryonic lethality by E9.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • 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
    733
  • Tissues
    15
  • cDNA Data
    82
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024234 Ensembl Gene Model | MGI Sequence Detail 21739 C57BL/6J ±  kb
    transcript ENSMUST00000025077 Ensembl | MGI Sequence Detail 2651 Not Applicable  
    polypeptide ENSMUSP00000025077 Ensembl | MGI Sequence Detail 585 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 83
      cDNA 82
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2147373
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    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