CIROZ

CIROZ
Identifiers
AliasesCIROZ, chromosome 1 open reading frame 127, C1orf127, Ciliated Left-Right Organizer Protein Containing ZP-N Domains, FLJ37118, HTX14
External IDsMGI: 2685418; GeneCards: CIROZ
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

148345

230909

Ensembl

ENSG00000175262

ENSMUSG00000070577

UniProt

Q8N9H9

B1ARY8

RefSeq (mRNA)

NM_001170754
NM_173507
NM_001366227

NM_001085505
NM_001368835

RefSeq (protein)

NP_001164225
NP_001353156

NP_001078974
NP_001355764

Location (UCSC)Chr 1: 10.95 – 10.98 MbChr 4: 148.73 – 148.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ciliated left-right organizer ZP-N domains-containing protein is a protein which in humans is encoded by the gene CIROZ (previously C1orf127).[5] It is involved in the development of the heart and in particular the process of establishing left-right asymmetry.[5] Related to this, genetic mutations in humans have been associated with this process getting disrupted (called situs ambiguus), often including inborn heart defects.[6]

It has become a non-functional pseudogene in certain non-human animals including birds and reptiles.[7]

Gene

CIROZ is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.

mRNA

The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing.[8]

Protein

The CIROZ protein is a member of the Ensembl protein family TF607005.[9] The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein.[10]

Domains and Motifs

CIROZ contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily.[11] The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18.[12]

Subcellular Localization

The CIROZ protein is suggested to be localized to the extracellular matrix in humans.[12]

Protein-Protein Interactions

CIROZ is suggested to interact with a few different proteins, including CCT3, a molecular chaperone, and CCT6B, also a molecular chaperone found in the testis.[5]

Expression

CIROZ is not constitutively expressed, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas.[13] It is also thought to be expressed in certain areas of both the developing and adult brain, such as the cerebellum, as well as skeletal muscle tissue, the testis, cardiac muscle, and throughout the digestive system.

Little else is known about this gene's expression, however a 2012 paper published in the World Journal of Gastroenterology suggested that its mis-expression could be used as a diagnostic marker locus in the detection of cancer[14]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000175262 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070577 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "CIROZ gene Ciliated Left-Right Organizer Protein Containing ZP-N Domains". genecards.org. LifeMap Sciences Inc. Retrieved 2026-07-27.
  6. ^ "Heterotaxy, Visceral, 14, Autosomal (HTX14)". malacards.org. LifeMap Sciences Inc. Retrieved 2026-07-27.
  7. ^ "Q8N9H9 · CIROZ_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-07-27.
  8. ^ "C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 18 February 2018.
  9. ^ "Gene: C1orf127". Ensembl. Retrieved 19 February 2018.
  10. ^ Lodish H, Berk A, Matsudaira P, Kaiser CA, Krieger M, Scott MP, Zipurksy SL, Darnell J (2004). Molecular Cell Biology (5th ed.). New York, New York: WH Freeman and Company.
  11. ^ "Conserved domains on uncharacterized protein precursor C1orf127". National Center for Biotechnology Information.
  12. ^ a b "PSORT II". PSORT II Prediction. Retrieved 6 May 2018.
  13. ^ "C1orf127 chromosome open reading frame 127 [Homo sapiens (human)]". Retrieved 19 February 2018.
  14. ^ Liu YY, Chen HY, Zhang ML, Tian D, Li S, Lee JY (September 2012). "Loss of fragile histidine triad and amplification of 1p36.22 and 11p15.5 in primary gastric adenocarcinomas". World Journal of Gastroenterology. 18 (33): 4522–32. doi:10.3748/wjg.v18.i33.4522. PMC 3435777. PMID 22969225.

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