HNRNPC

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HNRNPC
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001077442
NM_001077443
NM_004500
NM_031314

RefSeq (protein)

NP_001070910
NP_001070911
NP_004491
NP_112604

Location (UCSC)Chr 14: 21.21 – 21.27 MbChr 14: 52.31 – 52.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heterogeneous nuclear ribonucleoproteins C1/C2 is a protein that in humans is encoded by the HNRNPC gene.[5][6]

It is abnormally expressed in fetuses of both

IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.[7]

Function

This gene belongs to the subfamily of ubiquitously expressed

(VDR).[8][9][10] This relationship is disrupted by elevated HNRNPC, causing a form of hereditary vitamin D-resistant rickets (HVDRR) in both humans[8] and non-human primates.[11] The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Species-specific tetramerization of HNRNPC subunits is important to its nucleic acid binding, whereby over-expression of major human HNRNPC subunits in mouse osteoblastic cells confers vitamin D resistance.[12] Multiple transcript variants encoding at least two different isoforms have been described for this gene.[6]

Interactions

HNRNPC has been shown to

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092199Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060373Ensembl, 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. PMID 3457372
    .
  6. ^ a b "Entrez Gene: HNRPC heterogeneous nuclear ribonucleoprotein C (C1/C2)".
  7. S2CID 206362532
    .
  8. ^ .
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Further reading

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