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Siah1a Gene Detail
Summary
  • Symbol
    Siah1a
  • Name
    siah E3 ubiquitin protein ligase 1A
  • Synonyms
    Sinh1a
  • Feature Type
    protein coding gene
  • IDs
    MGI:108064
    NCBI Gene: 20437
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:87450635-87472562 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 42.10 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    424 from dbSNP Build 142
  • Strain Annotations
    17
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108064
 protein coding gene Chr8:87442450-87472634 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033909
 protein coding gene Chr8:87703138-87725197 (-)
A/J MGP_AJ_G0033892
 protein coding gene Chr8:84257676-84280368 (-)
AKR/J MGP_AKRJ_G0033818
 protein coding gene Chr8:86751254-86773974 (-)
BALB/cJ MGP_BALBcJ_G0033885
 protein coding gene Chr8:84402249-84424812 (-)
C3H/HeJ MGP_C3HHeJ_G0035919
 protein coding gene ChrX:162494380-162495804 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036735
 protein coding gene ChrX:166897851-166900475 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031347
 protein coding gene Chr8:78280094-78305909 (-)
CAST/EiJ MGP_CASTEiJ_G0032926
 protein coding gene Chr8:86764776-86792173 (-)
CBA/J MGP_CBAJ_G0033571
 protein coding gene Chr8:94154672-94180196 (-)
DBA/2J MGP_DBA2J_G0033724
 protein coding gene Chr8:83871351-83893367 (-)
FVB/NJ MGP_FVBNJ_G0035991
 protein coding gene ChrX:159341745-159343169 (-)
LP/J MGP_LPJ_G0033816
 protein coding gene Chr8:87824897-87847858 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036023
 protein coding gene ChrX:180412063-180417787 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034423
 protein coding gene Chr8:86743390-86774439 (-)
PWK/PhJ MGP_PWKPhJ_G0020811
 protein coding gene Chr15:35558602-35560460 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032465
 protein coding gene Chr8:85494187-85521016 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    SIAH1, siah E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIAH1, siah E3 ubiquitin protein ligase 1
  • Synonyms
    BURHAS, SIAH1A
  • Links
    NCBI Gene ID: 6477
    neXtProt AC: NX_Q8IUQ4
    UniProt: Q8IUQ4

  • Chr Location
    16q12.1; chr16:48356364-48448402 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    44 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 a targeted null mutation exhibit retarded postnatal growth, and high preweaning and postweaning mortality. Surviving females are subfertile, having few, if any, offspring, while males are sterile due to a block at meiotic metaphase I.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    12
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
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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
    766
  • Tissues
    42
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036840 Ensembl Gene Model | MGI Sequence Detail 21928 C57BL/6J ±  kb
    transcript ENSMUST00000045296 Ensembl | MGI Sequence Detail 1968 Not Applicable  
    polypeptide ENSMUSP00000044123 Ensembl | MGI Sequence Detail 282 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 2
      cDNA 14
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14419, MGD-MRK-37101, MGI:2142639
    References
    more
    • Summaries
      All 87
      Developmental Gene Expression 3
      Gene Ontology 12
      Phenotypes 44
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory