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Hephl1 Gene Detail
Summary
  • Symbol
    Hephl1
  • Name
    hephaestin-like 1
  • Synonyms
    cw, LOC244698, thd, Zp, zyklopen
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685355
    NCBI Gene: 244698
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:14963137-15023404 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, Syntenic
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1880 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685355
 protein coding gene Chr9:14963137-15023466 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034360
 protein coding gene Chr9:12016972-12091558 (-)
A/J MGP_AJ_G0034338
 protein coding gene Chr9:11957311-12018702 (-)
AKR/J MGP_AKRJ_G0034266
 protein coding gene Chr9:11967992-12029987 (-)
BALB/cJ MGP_BALBcJ_G0034332
 protein coding gene Chr9:11731496-11791837 (-)
C3H/HeJ MGP_C3HHeJ_G0034043
 protein coding gene Chr9:12280830-12341392 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034854
 protein coding gene Chr9:12412381-12474569 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031792
 protein coding gene Chr9:11252008-11313734 (-)
CAST/EiJ MGP_CASTEiJ_G0033370
 protein coding gene Chr9:12126025-12189978 (-)
CBA/J MGP_CBAJ_G0034016
 protein coding gene Chr9:12990580-13055362 (-)
DBA/2J MGP_DBA2J_G0034173
 protein coding gene Chr9:11831475-11891273 (-)
FVB/NJ MGP_FVBNJ_G0034118
 protein coding gene Chr9:11418979-11479062 (-)
LP/J MGP_LPJ_G0034259
 protein coding gene Chr9:12124963-12184692 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034162
 protein coding gene Chr9:14017339-14081184 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034873
 protein coding gene Chr9:11992203-12056203 (-)
PWK/PhJ MGP_PWKPhJ_G0033076
 protein coding gene Chr9:11905746-11966727 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032912
 protein coding gene Chr9:12092763-12160534 (-)
WSB/EiJ MGP_WSBEiJ_G0033486
 protein coding gene Chr9:11848624-11916565 (-)



Homology
more
  • Human Ortholog
    HEPHL1, hephaestin like 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEPHL1, hephaestin like 1
  • Synonyms
    HJDD, ZP
  • Links
    NCBI Gene ID: 341208
    neXtProt AC: NX_Q6MZM0
    UniProt: Q6MZM0

  • Chr Location
    11q21; chr11:94021354-94114208 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 5 genetic backgrounds
    2 images
    12 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.
Mutations in this gene result in vibrissae and coat abnormalities. Some alleles also affect coat color, immune response to specific antigens or develop B cell lymphoma.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    8
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
    735
  • Tissues
    24
  • cDNA Data
    3
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031936 Ensembl Gene Model | MGI Sequence Detail 60268 C57BL/6J ±  kb
    transcript ENSMUST00000159985 Ensembl | MGI Sequence Detail 5261 Not Applicable  
    polypeptide ENSMUSP00000124518 Ensembl | MGI Sequence Detail 1159 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      cDNA 3
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-2256, MGI:88569
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 12
    • Earliest
      J:5006 Falconer DS, et al., Curly-whiskers and its linkage with tail-kinks in linkage group II of the mouse. Genet Res. 1966 Aug;8(1):111-3
    • Latest
      J:276072 Eragene S, et al., The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1). Mol Genet Metab Rep. 2019 Sep;20:100478
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory