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Hand1 Gene Detail
Summary
  • Symbol
    Hand1
  • Name
    heart and neural crest derivatives expressed 1
  • Synonyms
    bHLHa27, eHAND, Ehand1, Hxt, Th1, Thing1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103577
    NCBI Gene: 15110
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:57719539-57722973 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 35.27 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    93 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103577
 protein coding gene Chr11:57719531-57723644 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018340
 protein coding gene Chr11:57467835-57471943 (-)
A/J MGP_AJ_G0018309
 protein coding gene Chr11:55298963-55303069 (-)
AKR/J MGP_AKRJ_G0018278
 protein coding gene Chr11:57117147-57121253 (-)
BALB/cJ MGP_BALBcJ_G0018280
 protein coding gene Chr11:55642049-55646155 (-)
C3H/HeJ MGP_C3HHeJ_G0018092
 protein coding gene Chr11:57047285-57051393 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018732
 protein coding gene Chr11:59225642-59229759 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016382
 protein coding gene Chr11:52658065-52662147 (-)
CAST/EiJ MGP_CASTEiJ_G0017656
 protein coding gene Chr11:57125155-57129266 (-)
CBA/J MGP_CBAJ_G0018066
 protein coding gene Chr11:61960396-61964506 (-)
DBA/2J MGP_DBA2J_G0018175
 protein coding gene Chr11:54944716-54948824 (-)
FVB/NJ MGP_FVBNJ_G0018167
 protein coding gene Chr11:54640087-54644195 (-)
LP/J MGP_LPJ_G0018250
 protein coding gene Chr11:57990182-57994286 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018193
 protein coding gene Chr11:63092357-63096468 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018774
 protein coding gene Chr11:57142514-57146726 (-)
PWK/PhJ MGP_PWKPhJ_G0017429
 protein coding gene Chr11:55545214-55549328 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017224
 protein coding gene Chr11:57017950-57022063 (-)
WSB/EiJ MGP_WSBEiJ_G0017704
 protein coding gene Chr11:56792543-56796649 (-)



Homology
more
  • Human Ortholog
    HAND1, heart and neural crest derivatives expressed 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HAND1, heart and neural crest derivatives expressed 1
  • Synonyms
    bHLHa27, eHand, Hxt, Thing1
  • Links
    NCBI Gene ID: 9421
    neXtProt AC: NX_O96004
    UniProt: O96004

  • Chr Location
    5q33.2; chr5:154474972-154478227 (-)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    115 phenotypes from 11 alleles in 12 genetic backgrounds
    24 phenotypes from multigenic genotypes
    37 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.
Homozygotes for targeted null mutations die at embryonic day 8.5-9.5 with yolk sac abnormalities associated with a deficiency of extraembryonic mesoderm and defective trophoblast differentiation. Tetraploid chimeric rescue slightly extends development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    19
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
    1578
  • Tissues
    466
  • cDNA Data
    82
  • Literature Summary
    268
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15110 NCBI Gene Model | MGI Sequence Detail 3435 C57BL/6J ±  kb
    transcript NM_008213 RefSeq | MGI Sequence Detail 1898 ZRU/MplStud  
    polypeptide Q64279 UniProt | EBI | MGI Sequence Detail 216 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000008439 heart- and neural crest derivatives-expressed protein 1
      (term hierarchy)
    • InterPro Domains
      IPR050283 E-box Binding Transcriptional Regulators
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 149
      Genomic 2
      cDNA 89
      Primer pair 28
      Other 30

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-24462, MGD-MRK-25634, MGI:104306
    References
    more
    • Summaries
      All 314
      Developmental Gene Expression 268
      Diseases 1
      Gene Ontology 19
      Phenotypes 37
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:357469 Sivori M, et al., The pelvic organs receive no parasympathetic innervation. Elife. 2024;15
    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