CRIM1

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
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

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