LCHN

Source: Wikipedia, the free encyclopedia.

LCHN is a protein that in humans is encoded by the KIAA1147 gene (NCBI Gene ID 57189) located on

ALS,[5]
however the gene's contribution to these states is not well understood.

Gene

KIAA1147 is located on the 7th chromosome in humans from bases 141652381-141702188 on the negative strand.[6] Additional names for KIAA1147 include PRO25611,[7] AI841796 in the mouse[8] and RGD1563986 in the rat.[9] Only one mRNA transcript of KIAA1147 has been reported in NCBI, and is composed of 9 exons.[1]

Protein

conserved domain within DENN family proteins,[2] and is also primarily coil in protein DENND1B,[16] which has been crystallized and confirmed to interact with the guanine nucleotide exchange domain of Rab-35.[16] LCHN also contains a Stability of Polarity Axis (SPA) region.[6] that may allow it to play a role in cell division.[17]

Expression

Immunohistochemistry shows localization of LCHN to cytoplasmic face of Golgi apparatus

Tissues

The

ischemic stroke.[4]

Transcriptional regulation

There are binding sites for two main groups of

HIFF (hypoxia inducible factor), CREB (cAMP responsive factor linked to ER stress response), GREF (glucocorticoid responsible factor), HEAT (heat shock responsive factor), and HDBP (Huntington's disease regulatory binding protein).[24] In patients with FTD-ALS, there has been reported abnormal upstream CpG methylation of KIAA1147[5]

Interacting proteins

SETBP1

Yeast two-hybrid assays have shown LCHN to physically interact with SETBP1,[25] a protein that contains 3 nuclear localization signals.[26] Despite the lack of a predicted nuclear localization signal in its own sequence, this interaction suggests that LCHN may be able to enter and have functional importance in the nucleus.

TGOLN2

In affinity chromatography studies, LCHN has been reported to have a physical association with TGOLN2,[27][28] a surface protein of the Golgi apparatus.[29] This likely explains immunohistochemical finding of strong LCHN localization near the Golgi apparatus [19] despite being a predicted cytoplasmic protein.[10]

Kallikreins

Affinity chromatography studies have also reported a physical association between LCHN and

KLK5 and KLK11,[27][28] serine proteases.[30]
It is possible that cleavage by these proteases may be relevant to LCHN's function.

EFNB3

LCHN has been reported to be capable of a physical association with EFNB3,[27] an ephrin receptor ligand with reported importance in neuronal development.[31] This, coupled with the high expression of LCHN in the developing central nervous system, suggests that binding of LCHN to EFNB3 may modulate neuronal development.

Predicted function

Neuronal insult

LCHN is localized to the developing mouse brain

LCHN expression has been reported to be unregulated following ischemic stroke, chronic alcoholism, and cell culture responses of immature and mature dendrites to prolonged hypoxia.

neuronal damage or death,[33] as well presence of several binding sites for factors induced by rapid trauma to the brain,[24]
it is likely that KIAA1147 plays a role in the brain’s response to sudden stress and injury.

Neuronal development

The presence of the SPA domain within LCHN suggests that it may play a role in

EFNB3, a protein with reported importance in neuronal development.[27][31] A second reported association with SETBP1 may open up the possibility for LCHN to play a role in cell cycle regulation from within the nucleus.[25][26] The predicted KIAA1147 promoter contains binding sites for cell-division related factors and factors known to have specific expression during neuronal development. RNA in situ hybridization
has shown KIAA1147 to be located at high levels in the developing brain. Together, these data suggest that LCHN plays a role in regulating cellular division during development of the brain.

Clinical significance

LCHN has been shown to be upregulated following a number of insults to the brain including the response to

SNPs in LCHN have been reported with high frequency.[34]

Homology

Animalian LCHN Orthologs
Non-Animalian LCHN Orthologs

There are no reported

fungi.[1]

References

  1. ^ a b c d e "KIAA1147 KIAA1147 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-01.
  2. ^
    PMID 21330364
    .
  3. PMID 20466531
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  4. ^
    S2CID 44890608
    .
  5. ^
    PMID 28827549
    .
  6. ^ a b c "Gene: KIAA1147 (ENSG00000257093) - Summary - Homo sapiens - Ensembl genome browser 91". useast.ensembl.org. Retrieved 2018-02-04.
  7. ^ "KIAA1147 KIAA1147 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-04.
  8. ^ "E330009J07Rik RIKEN cDNA E330009J07 gene [Mus musculus (house mouse)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-04.
  9. ^ "RGD1563986 similar to RIKEN cDNA E330009J07 gene [Rattus norvegicus (Norway rat)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-04.
  10. ^ a b EMBL-EBI. "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-01.
  11. ^ "NetPhos 3.1 Server". www.cbs.dtu.dk. Retrieved 2018-05-01.
  12. ^ "ELM - Search the ELM resource". elm.eu.org. Retrieved 2018-05-01.
  13. ^ UCBL Id. "NPS@ : SOPMA secondary structure prediction". npsa-prabi.ibcp.fr. Retrieved 2018-05-01.{{cite web}}: CS1 maint: numeric names: authors list (link)
  14. ^ UCBL Id. "NPS@ : GOR4 secondary structure prediction". npsa-prabi.ibcp.fr. Retrieved 2018-05-01.{{cite web}}: CS1 maint: numeric names: authors list (link)
  15. ^ Kumar PT. "CFSSP: Chou & Fasman Secondary Structure Prediction Server". www.biogem.org. Retrieved 2018-05-01.
  16. ^
    doi:10.2210/pdb3tw8/pdb
    . Retrieved 2018-05-01.
  17. ^ a b "NCBI CDD Conserved Protein Domain SPA". www.ncbi.nlm.nih.gov. Retrieved 2018-05-03.
  18. ^ "Tissue expression of KIAA1147 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-03.
  19. ^ a b "Cell atlas - KIAA1147 - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-03.
  20. ^ "Genepaint - Home of High Resolution Gene Expression Data". gp3.mpg.de. Retrieved 2018-05-03.
  21. ^ "Gene Detail :: Allen Brain Atlas: Mouse Brain". mouse.brain-map.org. Retrieved 2018-05-03.
  22. ^ "Prenatal LMD Microarray :: BrainSpan: Atlas of the Developing Human Brain". www.brainspan.org. Retrieved 2018-05-03.
  23. ^ a b c geo. "GEO DataSet Browser". www.ncbi.nlm.nih.gov. Retrieved 2018-05-03.
  24. ^ a b c "ElDorado: Annotation & Analysis". www.genomatix.de. Retrieved 2018-05-05.
  25. ^
    PMID 25416956
    .
  26. ^ a b Database GH. "SETBP1 Gene - GeneCards | SETBP Protein | SETBP Antibody". www.genecards.org. Retrieved 2018-05-03.
  27. ^
    PMID 26186194
    .
  28. ^
    PMID 28514442
    .
  29. ^ Database GH. "TGOLN2 Gene - GeneCards | TGON2 Protein | TGON2 Antibody". www.genecards.org. Retrieved 2018-05-03.
  30. PMID 26408415
    .
  31. ^ a b Database GH. "EFNB3 Gene - GeneCards | EFNB3 Protein | EFNB3 Antibody". www.genecards.org. Retrieved 2018-05-03.
  32. PMID 16200199
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  33. PMID 19075733
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  34. ^ "Home - SNP - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
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