Cps1 Gene Detail

Summary

• Symbol
  Cps1
• Name
  carbamoyl-phosphate synthetase 1
• Synonyms
  4732433M03Rik, CPS, CPSase I, D1Ucla3

• Feature Type
  protein coding gene
• IDs
  MGI:891996
  NCBI Gene: 227231
• Alliance
  gene page
• Transcription Start Sites
  74 TSS

Location &
Maps

• Sequence Map
  Chr1:67162185-67270418 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, 33.75 cM, cytoband C3
• Mapping Data
  5 experiments

Strain
Comparison

• SNPs within 2kb
  1252 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_891996	protein coding gene	Chr1:67151294-67270426 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016119	protein coding gene	Chr1:67391667-67500837 (+)
A/J	MGP_AJ_G0016102	protein coding gene	Chr1:65011237-65121384 (+)
AKR/J	MGP_AKRJ_G0016059	protein coding gene	Chr1:66864319-66973079 (+)
BALB/cJ	MGP_BALBcJ_G0016057	protein coding gene	Chr1:65094855-65210647 (+)
C3H/HeJ	MGP_C3HHeJ_G0015888	protein coding gene	Chr1:67118253-67230933 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016510	protein coding gene	Chr1:69998013-70113739 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014231	protein coding gene	Chr1:60943996-61051707 (+)
CAST/EiJ	MGP_CASTEiJ_G0015472	protein coding gene	Chr1:66395840-66519635 (+)
CBA/J	MGP_CBAJ_G0015861	protein coding gene	Chr1:72283330-72401626 (+)
DBA/2J	MGP_DBA2J_G0015962	protein coding gene	Chr1:64400020-64535585 (+)
FVB/NJ	MGP_FVBNJ_G0015965	protein coding gene	Chr1:63650318-63762350 (+)
LP/J	MGP_LPJ_G0016034	protein coding gene	Chr1:68364021-68487616 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015985	protein coding gene	Chr1:75224412-75371007 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016557	protein coding gene	Chr1:66825703-66937296 (+)
PWK/PhJ	MGP_PWKPhJ_G0015259	protein coding gene	Chr1:63812243-63926797 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015038	protein coding gene	Chr1:66287531-66404286 (+)
WSB/EiJ	MGP_WSBEiJ_G0015534	protein coding gene	Chr1:66558539-66674325 (+)

Homology

• Human Ortholog
  CPS1, carbamoyl-phosphate synthase 1

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  CPS1, carbamoyl-phosphate synthase 1
  
• Synonyms
  CPSASE1, GATD6, PHN
• Links
  HGNC:2323

  NCBI Gene ID: 1373

  neXtProt AC: NX_P31327

  UniProt: P31327

  
  
• Chr Location
  2q34; chr2:210477682-210679107 (+)  GRCh38

---

• MGI Vertebrate Homology
  Cps1 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: CPS1
• Gene Tree
  Cps1
  

Human Diseases

• Diseases
  1 with Cps1 mouse models; 3 with human CPS1 associations

Human Disease

Mouse Models

carbamoyl phosphate synthetase I deficiency disease

IDs

carbamoyl phosphate synthetase I deficiency disease      

DOID:9280
MESH:D020165
NCI:C84612
OMIM:237300
UMLS_CUI:C0751753

View 1 model

Mouse Models

Human Disease Modeled: carbamoyl phosphate synthetase I deficiency disease

Allelic Composition	Genetic Background	Reference	Phenotypes
Cps1tm1Mw/Cps1tm1Mw	involves: 129S7/SvEvBrd * C57BL/6	J:52334	View

persistent fetal circulation syndrome

IDs

persistent fetal circulation syndrome      

DOID:13042
ICD10CM:P29.3
ICD9CM:747.83
MESH:D010547
NCI:C85006
OMIM:265380
UMLS_CUI:C0031190

vascular disease

IDs

vascular disease      

DOID:178
DOID:0000405
DOID:2403
DOID:2869
DOID:324
DOID:325
DOID:45
ICD10CM:I72.9
ICD9CM:442.9
MESH:D000783
MESH:D014652
MESH:D020758
MESH:D020760
NCI:C26693
NCI:C35117
UMLS_CUI:C0002940
UMLS_CUI:C0042373
UMLS_CUI:C0752127
UMLS_CUI:C0752130

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  10 phenotypes from 2 alleles in 2 genetic backgrounds
  12 phenotype references
  

• All Mutations and Alleles
  10
• Chemically induced (other)
  1
• Endonuclease-mediated
  7
• Radiation induced
  1
• Targeted
  1
• Genomic Mutations
  2 involving Cps1
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  111 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  74
• GO References
  12

Expression

• Assay Results
  879
• Tissues
  149
• cDNA Data
  75
• Literature Summary
  17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase cps1
  ZFIN cps1

Sequences &
Gene Models

• All Sequences
  40
• RefSeq
  6
• UniProt
  2
• CCDS
  CCDS35605.1

• Ensembl
  ENSMUSG00000025991 (Evidence)
• NCBI Gene
  227231

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000025991	Ensembl Gene Model | MGI Sequence Detail	108234	C57BL/6J
transcript	ENSMUST00000027144	Ensembl | MGI Sequence Detail	5555	Not Applicable
polypeptide	ENSMUSP00000027144	Ensembl | MGI Sequence Detail	1500	Not Applicable

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000005827 carbamoyl-phosphate synthase [ammonia], mitochondrial
  (term hierarchy)
• EC
  6.3.4.16
• InterPro Domains
  IPR011761 ATP-grasp fold
  IPR013815 ATP-grasp fold, subdomain 1
  IPR006275 Carbamoyl-phosphate synthase, large subunit
  IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
  IPR006274 Carbamoyl-phosphate synthase, small subunit
  IPR035686 Carbamoyl-phosphate synthase small subunit, GATase1 domain
  IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domain
  IPR036480 Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily
  IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
  IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
  IPR036897 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily
  IPR029062 Class I glutamine amidotransferase-like
  IPR017926 Glutamine amidotransferase
  IPR011607 Methylglyoxal synthase-like domain
  IPR036914 Methylglyoxal synthase-like domain superfamily
  IPR016185 Pre-ATP-grasp domain superfamily
• GlyGen
  Q8C196 9 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (7 sites)

Molecular
Reagents

• All nucleic 80

  cDNA 77

  Primer pair 2

  Other 1

  
  

  Microarray probesets 2

Other
Accession IDs

MGD-MRK-5718, MGI:3036229, MGI:91859

References

• Summaries
  All 75

  Developmental Gene Expression 17

  Diseases 1

  Gene Ontology 12

  Phenotypes 12
• Earliest
  J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
• Latest
  J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cps1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7183	Chr1:67162014-67162021 (+)	-167 bp
Tssr7184	Chr1:67162174-67162228 (+)	16 bp
Tssr7185	Chr1:67162798-67162818 (+)	623 bp
Tssr7186	Chr1:67168081-67168092 (+)	5,902 bp
Tssr7187	Chr1:67168186-67168207 (+)	6,012 bp
Tssr7188	Chr1:67168274-67168311 (+)	6,108 bp
Tssr7189	Chr1:67170856-67170904 (+)	8,695 bp
Tssr7190	Chr1:67173996-67173998 (+)	11,812 bp
Tssr7191	Chr1:67175901-67175929 (+)	13,730 bp
Tssr7192	Chr1:67182095-67182109 (+)	19,917 bp
Tssr7193	Chr1:67183958-67183967 (+)	21,778 bp
Tssr7194	Chr1:67183978-67183994 (+)	21,801 bp
Tssr7195	Chr1:67184032-67184047 (+)	21,855 bp
Tssr7196	Chr1:67184061-67184086 (+)	21,889 bp
Tssr7197	Chr1:67184152-67184157 (+)	21,970 bp
Tssr7198	Chr1:67187059-67187061 (+)	24,875 bp
Tssr7199	Chr1:67191626-67191636 (+)	29,446 bp
Tssr7200	Chr1:67191831-67191877 (+)	29,669 bp
Tssr7201	Chr1:67191898-67191916 (+)	29,722 bp
Tssr7202	Chr1:67192666-67192671 (+)	30,484 bp
Tssr7203	Chr1:67193442-67193458 (+)	31,265 bp
Tssr7204	Chr1:67193481-67193496 (+)	31,304 bp
Tssr7205	Chr1:67193502-67193527 (+)	31,330 bp
Tssr7206	Chr1:67195358-67195384 (+)	33,186 bp
Tssr7207	Chr1:67196053-67196062 (+)	33,873 bp
Tssr7208	Chr1:67196939-67196982 (+)	34,776 bp
Tssr7209	Chr1:67198541-67198552 (+)	36,362 bp
Tssr7210	Chr1:67198580-67198591 (+)	36,401 bp
Tssr7211	Chr1:67198592-67198630 (+)	36,426 bp
Tssr7212	Chr1:67200050-67200075 (+)	37,878 bp
Tssr7213	Chr1:67204603-67204652 (+)	42,443 bp
Tssr7214	Chr1:67207469-67207478 (+)	45,289 bp
Tssr7215	Chr1:67211985-67211995 (+)	49,805 bp
Tssr7216	Chr1:67213508-67213517 (+)	51,328 bp
Tssr7217	Chr1:67213523-67213532 (+)	51,343 bp
Tssr7218	Chr1:67213592-67213606 (+)	51,414 bp
Tssr7219	Chr1:67213666-67213677 (+)	51,487 bp
Tssr7220	Chr1:67213758-67213771 (+)	51,580 bp
Tssr7221	Chr1:67213825-67213834 (+)	51,645 bp
Tssr7222	Chr1:67216133-67216156 (+)	53,960 bp
Tssr7223	Chr1:67216481-67216485 (+)	54,298 bp
Tssr7224	Chr1:67219261-67219279 (+)	57,085 bp
Tssr7225	Chr1:67226056-67226059 (+)	63,873 bp
Tssr7226	Chr1:67232439-67232457 (+)	70,263 bp
Tssr7227	Chr1:67232921-67232933 (+)	70,742 bp
Tssr7228	Chr1:67232973-67232983 (+)	70,793 bp
Tssr7229	Chr1:67240126-67240129 (+)	77,943 bp
Tssr107	Chr1:67245989-67245993 (+)	83,806 bp
Tssr7230	Chr1:67248742-67248754 (+)	86,563 bp
Tssr7231	Chr1:67250407-67250470 (+)	88,254 bp
Tssr7232	Chr1:67250478-67250491 (+)	88,300 bp
Tssr108	Chr1:67252144-67252146 (+)	89,960 bp
Tssr7233	Chr1:67254682-67254692 (+)	92,502 bp
Tssr7234	Chr1:67259656-67259666 (+)	97,476 bp
Tssr7235	Chr1:67259671-67259692 (+)	97,497 bp
Tssr7236	Chr1:67259700-67259709 (+)	97,520 bp
Tssr7237	Chr1:67259717-67259731 (+)	97,539 bp
Tssr109	Chr1:67265733-67265735 (+)	103,549 bp
Tssr7238	Chr1:67267396-67267407 (+)	105,217 bp
Tssr7239	Chr1:67268569-67268587 (+)	106,393 bp
Tssr7240	Chr1:67269562-67269584 (+)	107,388 bp
Tssr7241	Chr1:67269592-67269655 (+)	107,439 bp
Tssr7242	Chr1:67269700-67269714 (+)	107,522 bp
Tssr7243	Chr1:67269719-67269725 (+)	107,537 bp
Tssr7244	Chr1:67269755-67269761 (+)	107,573 bp
Tssr7245	Chr1:67269769-67269787 (+)	107,593 bp
Tssr7246	Chr1:67269802-67269812 (+)	107,622 bp
Tssr7247	Chr1:67269849-67269856 (+)	107,668 bp
Tssr7248	Chr1:67269866-67269892 (+)	107,694 bp
Tssr7249	Chr1:67269921-67269946 (+)	107,749 bp
Tssr7250	Chr1:67269969-67269982 (+)	107,791 bp
Tssr7251	Chr1:67270018-67270036 (+)	107,842 bp
Tssr7252	Chr1:67270057-67270060 (+)	107,874 bp
Tssr7253	Chr1:67270079-67270084 (+)	107,897 bp