About   Help   FAQ
Heatr1 Gene Detail
Summary
  • Symbol
    Heatr1
  • Name
    HEAT repeat containing 1
  • Synonyms
    B130016L12Rik, MGC:30806
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442524
    NCBI Gene: 217995
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:12410256-12453774 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 4.56 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1029 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442524
 protein coding gene Chr13:12409908-12455170 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020230
 protein coding gene Chr13:9154603-9200152 (+)
A/J MGP_AJ_G0020186
 protein coding gene Chr13:8981764-9025241 (+)
AKR/J MGP_AKRJ_G0020161
 protein coding gene Chr13:9181696-9225662 (+)
BALB/cJ MGP_BALBcJ_G0020169
 protein coding gene Chr13:8967220-9010729 (+)
C3H/HeJ MGP_C3HHeJ_G0019973
 protein coding gene Chr13:9312131-9356212 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020616
 protein coding gene Chr13:9578408-9623637 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018223
 protein coding gene Chr13:8812927-8855966 (+)
CAST/EiJ MGP_CASTEiJ_G0019511
 protein coding gene Chr13:9020417-9066474 (+)
CBA/J MGP_CBAJ_G0019940
 protein coding gene Chr13:9833611-9878562 (+)
DBA/2J MGP_DBA2J_G0020057
 protein coding gene Chr13:8802153-8846151 (+)
FVB/NJ MGP_FVBNJ_G0020042
 protein coding gene Chr13:8617341-8663837 (+)
LP/J MGP_LPJ_G0020131
 protein coding gene Chr13:9254270-9301850 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020078
 protein coding gene Chr13:10121030-10164910 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020644
 protein coding gene Chr13:9078577-9125688 (+)
PWK/PhJ MGP_PWKPhJ_G0019274
 protein coding gene Chr13:8838570-8890387 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019081
 protein coding gene Chr13:9059810-9104454 (+)
WSB/EiJ MGP_WSBEiJ_G0019571
 protein coding gene Chr13:9045538-9089938 (+)



Homology
more
  • Human Ortholog
    HEATR1, HEAT repeat containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEATR1, HEAT repeat containing 1
  • Synonyms
    BAP28, UTP10
  • Links
    NCBI Gene ID: 55127
    neXtProt AC: NX_Q9H583
    UniProt: Q9H583

  • Chr Location
    1q43; chr1:236549005-236604516 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human HEATR1 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
    4 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    2
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
    806
  • Tissues
    14
  • cDNA Data
    102
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 217995 NCBI Gene Model | MGI Sequence Detail 43519 C57BL/6J ±  kb
transcript NM_144835 RefSeq | MGI Sequence Detail 6776 ZRU/MplStud  
polypeptide NP_659084 RefSeq | MGI Sequence Detail 2143 ZRU/MplStud  
For the selected sequence
Protein
Information
less
  • UniProt
    11 Sequences
  • InterPro Domains
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR012954 BP28, C-terminal domain
    IPR040191 U3 small nucleolar RNA-associated protein 10
    IPR022125 U3 small nucleolar RNA-associated protein 10, N-terminal
Molecular
Reagents
less
  • All nucleic 103
    cDNA 102
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2137528, MGI:2384983
References
more
  • Summaries
    All 30
    Developmental Gene Expression 2
    Gene Ontology 2
    Phenotypes 4
  • Earliest
    J:70256 Martin N, et al., Genetic and physical delineation of the region overlapping the progressive motor neuropathy (pmn) locus on mouse chromosome 13. Genomics. 2001 Jul;75(1-3):9-16
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
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
11/19/2024
MGI 6.24 		The Jackson Laboratory