About   Help   FAQ
Isca1 Gene Detail
Summary
  • Symbol
    Isca1
  • Name
    iron-sulfur cluster assembly 1
  • Synonyms
    1810010A06Rik, Hbld2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916296
    NCBI Gene: 69046
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:59903229-59917603 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 31.88 cM, cytoband A3.1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    469 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916296
 protein coding gene Chr13:59903223-59917624 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020644
 protein coding gene Chr13:59472868-59483545 (-)
A/J MGP_AJ_G0020599
 protein coding gene Chr13:57249806-57266817 (-)
AKR/J MGP_AKRJ_G0020575
 protein coding gene Chr13:58982501-58991514 (-)
BALB/cJ MGP_BALBcJ_G0020595
 protein coding gene Chr13:57514745-57528725 (-)
C3H/HeJ MGP_C3HHeJ_G0020392
 protein coding gene Chr13:58758203-58774073 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021029
 protein coding gene Chr13:61269441-61286684 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018611
 protein coding gene Chr13:55138890-55153765 (-)
CAST/EiJ MGP_CASTEiJ_G0019900
 protein coding gene Chr13:58582191-58584599 (+)
CBA/J MGP_CBAJ_G0020352
 protein coding gene Chr13:63582914-63601079 (-)
DBA/2J MGP_DBA2J_G0020476
 protein coding gene Chr13:56794120-56808314 (-)
FVB/NJ MGP_FVBNJ_G0020454
 protein coding gene Chr13:56279332-56292956 (-)
LP/J MGP_LPJ_G0020552
 protein coding gene Chr13:59733880-59748800 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020484
 protein coding gene Chr13:62882943-62897330 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021072
 protein coding gene Chr13:58572791-58585800 (-)
PWK/PhJ MGP_PWKPhJ_G0019663
 protein coding gene Chr13:56831021-56848493 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019490
 protein coding gene Chr13:57445969-57464369 (-)
WSB/EiJ MGP_WSBEiJ_G0019970
 protein coding gene Chr13:59019267-59030188 (-)



Homology
more
  • Human Ortholog
    ISCA1, iron-sulfur cluster assembly 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ISCA1, iron-sulfur cluster assembly 1
  • Synonyms
    HBLD2, hIscA, hIscA1, ISA1, MMDS5
  • Links
    NCBI Gene ID: 81689
    neXtProt AC: NX_Q9BUE6
    UniProt: Q9BUE6

  • Chr Location
    9q21.33; chr9:86264546-86283102 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ISCA1 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 2 genetic backgrounds
    1 images
    13 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
    9
  • GO References
    4
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
    853
  • Tissues
    62
  • cDNA Data
    197
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69046 NCBI Gene Model | MGI Sequence Detail 14375 C57BL/6J ±  kb
    transcript NM_026921 RefSeq | MGI Sequence Detail 1915 C57BL/6  
    polypeptide Q9D924 UniProt | EBI | MGI Sequence Detail 129 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR000361 FeS cluster biogenesis
      IPR017870 FeS cluster insertion, C-terminal, conserved site
      IPR016092 FeS cluster insertion protein
      IPR035903 HesB-like domain superfamily
      IPR050322 Iron-sulfur cluster assembly and transfer HesB/IscA
    Molecular
    Reagents
    less
    • All nucleic 198
      cDNA 197
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 4
      Gene Ontology 4
      Phenotypes 13
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • 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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory