CRIM1

Protein-coding gene in the species Homo sapiens
CRIM1
Identifiers
AliasesCRIM1, CRIM-1, S52, cysteine rich transmembrane BMP regulator 1 (chordin-like), cysteine rich transmembrane BMP regulator 1
External IDsOMIM: 606189; MGI: 1354756; HomoloGene: 9510; GeneCards: CRIM1; OMA:CRIM1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CRIM1
Genomic location for CRIM1
Band2p22.2Start36,355,778 bp[1]
End36,551,135 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for CRIM1
Genomic location for CRIM1
Band17|17 E2- E3Start78,507,677 bp[2]
End78,684,021 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • saphenous vein

  • renal medulla

  • superficial temporal artery

  • lactiferous duct

  • pericardium

  • glomerulus

  • germinal epithelium

  • metanephric glomerulus

  • urethra

  • vena cava
Top expressed in
  • retinal pigment epithelium

  • epithelium of lens

  • decidua

  • gastrula

  • vestibular membrane of cochlear duct

  • lateral geniculate nucleus

  • medial dorsal nucleus

  • intercostal muscle

  • medial geniculate nucleus

  • ciliary body
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • enzyme inhibitor activity
  • PDZ domain binding
  • insulin-like growth factor binding
  • insulin-like growth factor-activated receptor activity
  • serine-type endopeptidase inhibitor activity
Cellular component
  • integral component of membrane
  • extracellular region
  • plasma membrane
  • membrane
Biological process
  • negative regulation of catalytic activity
  • regulation of cell growth
  • nervous system development
  • negative regulation of endopeptidase activity
  • insulin-like growth factor receptor signaling pathway
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51232

50766

Ensembl

ENSG00000277354
ENSG00000150938

ENSMUSG00000024074

UniProt

Q9NZV1

Q9JLL0

RefSeq (mRNA)

NM_016441

NM_015800

RefSeq (protein)

NP_057525

NP_056615

Location (UCSC)Chr 2: 36.36 – 36.55 MbChr 17: 78.51 – 78.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cysteine-rich motor neuron 1 protein is a protein that in humans is encoded by the CRIM1 gene.[5][6]

Function

Motor neurons are among the earliest neurons to appear after the commencement of cell patterning and the beginning of cell differentiation. Differentiation occurs in a ventral-to-dorsal gradient and is mediated, at least in part, by the concentration of ventrally expressed sonic hedgehog protein (SHH; MIM 600725). Dorsally expressed factors, such as members of the bone morphogenic protein (e.g., BMP4; MIM 112262) and transforming growth factor-beta (e.g., TGFB1; MIM 190180) families, can repress the induction of these neurons. CRIM1 may interact with growth factors implicated in motor neuron differentiation and survival.[5][6]

Clinical significance

Loss of Crim1 function as demonstrated by the Crim1 KST264 hypomorph mice resulted in onset of chronic kidney disease with accompanying pathology including papillary hypoplasia, functional urinary tract obstruction, ectopic collagen accumulation within the endothelium and tubulointerstitial fibrosis which was in part attributed by (endothelial) epithelial–mesenchymal transition.[7][8]

References

  1. ^ a b c ENSG00000150938 GRCh38: Ensembl release 89: ENSG00000277354, ENSG00000150938 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024074 – 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 Kolle G, Georgas K, Holmes GP, Little MH, Yamada T (Feb 2000). "CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis". Mechanisms of Development. 90 (2): 181–93. doi:10.1016/S0925-4773(99)00248-8. PMID 10642437. S2CID 6529349.
  6. ^ a b "Entrez Gene: CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)".
  7. ^ Phua YL, Martel N, Pennisi DJ, Little MH, Wilkinson L (Apr 2013). "Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins". The Journal of Pathology. 229 (5): 685–96. doi:10.1002/path.4155. PMID 23224993. S2CID 22837861.
  8. ^ Wilkinson L, Kurniawan ND, Phua YL, Nguyen MJ, Li J, Galloway GJ, Hashitani H, Lang RJ, Little MH (Aug 2012). "Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice" (PDF). The Journal of Pathology. 227 (4): 499–510. doi:10.1002/path.4036. PMID 22488641. S2CID 2777257.

Further reading

  • Wilkinson L, Kurniawan ND, Phua YL, Nguyen MJ, Li J, Galloway GJ, Hashitani H, Lang RJ, Little MH (Aug 2012). "Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice" (PDF). The Journal of Pathology. 227 (4): 499–510. doi:10.1002/path.4036. PMID 22488641. S2CID 2777257.
  • Phua YL, Martel N, Pennisi DJ, Little MH, Wilkinson L (Apr 2013). "Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins". The Journal of Pathology. 229 (5): 685–96. doi:10.1002/path.4155. PMID 23224993. S2CID 22837861.
  • Pennisi DJ, Wilkinson L, Kolle G, Sohaskey ML, Gillinder K, Piper MJ, McAvoy JW, Lovicu FJ, Little MH (Feb 2007). "Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems". Developmental Dynamics. 236 (2): 502–11. doi:10.1002/dvdy.21015. PMID 17106887. S2CID 1563138.
  • Zhang Z, Henzel WJ (Oct 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
  • Wilkinson L, Kolle G, Wen D, Piper M, Scott J, Little M (Sep 2003). "CRIM1 regulates the rate of processing and delivery of bone morphogenetic proteins to the cell surface". The Journal of Biological Chemistry. 278 (36): 34181–8. doi:10.1074/jbc.M301247200. PMID 12805376.
  • Glienke J, Sturz A, Menrad A, Thierauch KH (Dec 2002). "CRIM1 is involved in endothelial cell capillary formation in vitro and is expressed in blood vessels in vivo". Mechanisms of Development. 119 (2): 165–75. doi:10.1016/S0925-4773(02)00355-6. PMID 12464430. S2CID 7308653.
  • Georgas K, Bowles J, Yamada T, Koopman P, Little MH (Dec 2000). "Characterisation of Crim1 expression in the developing mouse urogenital tract reveals a sexually dimorphic gonadal expression pattern". Developmental Dynamics. 219 (4): 582–7. doi:10.1002/1097-0177(2000)9999:9999<::AID-DVDY1072>3.0.CO;2-I. PMID 11084657.
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