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    HNRNPC heterogeneous nuclear ribonucleoprotein C [ Homo sapiens (human) ]

    Gene ID: 3183, updated on 28-Oct-2024

    Summary

    Official Symbol
    HNRNPCprovided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein Cprovided by HGNC
    Primary source
    HGNC:HGNC:5035
    See related
    Ensembl:ENSG00000092199 MIM:164020; AllianceGenome:HGNC:5035
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1; C2; HNRNP; HNRPC; MRD74; SNRPC
    Summary
    This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 82.0), bone marrow (RPKM 78.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HNRNPC in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21209147..21269442, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15406559..15466855, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21677306..21737601, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene myoneurin pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21660988-21661488 Neighboring gene long intergenic non-protein coding RNA 641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21686859-21687402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21722469-21723406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21734420-21735000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21735001-21735580 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21737080-21737704 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21737705-21738330 Neighboring gene RPGR interacting protein 1 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:21777043-21777570 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21817331-21817510 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21820143-21821342 Neighboring gene SPT16 homolog, facilitates chromatin remodeling subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal dominant 74
    MedGen: C5882749 OMIM: 620688 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-11-29)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2023-11-29)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein C (HNRNPC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein C (HNRNPC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein C (HNRNPC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein C (HNRNPC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev HIV-1 Rev interacting protein, heterogeneous nuclear ribonucleoprotein C (HNRNPC), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with HNRNPC is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104306, MGC105117, MGC117353, MGC131677

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N6-methyladenosine-containing RNA reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleosomal DNA binding HDA PubMed 
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables telomerase RNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    heterogeneous nuclear ribonucleoproteins C1/C2
    Names
    heterogeneous nuclear ribonucleoprotein C (C1/C2)
    hnRNP C1/C2
    nuclear ribonucleoprotein particle C1 protein
    nuclear ribonucleoprotein particle C2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029011.1 RefSeqGene

      Range
      5038..65333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077442.2NP_001070910.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform a

      See identical proteins and their annotated locations for NP_001070910.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode isoform a, also known as isoform C2.
      Source sequence(s)
      AB209527, AL135744, BC108658, DB449514
      Consensus CDS
      CCDS41915.1
      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Related
      ENSP00000452276.1, ENST00000557201.5
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    2. NM_001077443.2NP_001070911.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform b

      See identical proteins and their annotated locations for NP_001070911.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame segment compared to variant 1. The resulting isoform (b, also known as isoform C1) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.
      Source sequence(s)
      AL135744, BC108658, DB449514
      Consensus CDS
      CCDS45079.1
      UniProtKB/TrEMBL
      B3KX96
      Related
      ENSP00000338095.6, ENST00000336053.10
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    3. NM_004500.4NP_004491.2  heterogeneous nuclear ribonucleoproteins C1/C2 isoform b

      See identical proteins and their annotated locations for NP_004491.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (b, also known as isoform C1) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.
      Source sequence(s)
      AL135744, BC003394, DB449514
      Consensus CDS
      CCDS45079.1
      UniProtKB/TrEMBL
      B3KX96
      Related
      ENSP00000450544.1, ENST00000553300.6
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    4. NM_031314.3NP_112604.2  heterogeneous nuclear ribonucleoproteins C1/C2 isoform a

      See identical proteins and their annotated locations for NP_112604.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a, also known as isoform C2). Variants 1 and 3 both encode isoform a.
      Source sequence(s)
      AB209527, AL135744, DB449514
      Consensus CDS
      CCDS41915.1
      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Related
      ENSP00000451291.1, ENST00000554455.5
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21209147..21269442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536712.3XP_011535014.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      See identical proteins and their annotated locations for XP_011535014.1

      UniProtKB/TrEMBL
      B3KX96
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    2. XM_011536708.2XP_011535010.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      See identical proteins and their annotated locations for XP_011535010.1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    3. XM_006720125.4XP_006720188.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      See identical proteins and their annotated locations for XP_006720188.1

      UniProtKB/TrEMBL
      B3KX96
      Related
      ENSP00000451176.1, ENST00000556897.5
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    4. XM_011536710.3XP_011535012.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      See identical proteins and their annotated locations for XP_011535012.1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    5. XM_017021252.3XP_016876741.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      UniProtKB/TrEMBL
      B3KX96
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    6. XM_017021253.3XP_016876742.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      UniProtKB/TrEMBL
      B3KX96
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    7. XM_011536709.4XP_011535011.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      See identical proteins and their annotated locations for XP_011535011.1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Related
      ENSP00000404848.2, ENST00000420743.6
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    8. XM_024449558.2XP_024305326.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      UniProtKB/TrEMBL
      B3KX96
      Related
      ENSP00000442816.1, ENST00000430246.6
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    9. XM_024449556.2XP_024305324.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    10. XM_024449559.2XP_024305327.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

      UniProtKB/TrEMBL
      B3KX96
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    11. XM_024449557.2XP_024305325.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
      UniProtKB/TrEMBL
      A8K9A4
      Conserved Domains (1) summary
      cd12603
      Location:1093
      RRM_hnRNPC; RNA recognition motif (RRM) found in vertebrate heterogeneous nuclear ribonucleoprotein C1/C2 (hnRNP C1/C2)
    12. XM_047431331.1XP_047287287.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    13. XM_047431329.1XP_047287285.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    14. XM_047431330.1XP_047287286.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15406559..15466855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375957.1XP_054231932.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    2. XM_054375949.1XP_054231924.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    3. XM_054375955.1XP_054231930.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    4. XM_054375948.1XP_054231923.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    5. XM_054375956.1XP_054231931.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    6. XM_054375959.1XP_054231934.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    7. XM_054375951.1XP_054231926.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    8. XM_054375954.1XP_054231929.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    9. XM_054375950.1XP_054231925.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    10. XM_054375958.1XP_054231933.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    11. XM_054375952.1XP_054231927.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    12. XM_054375961.1XP_054231936.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2

    13. XM_054375953.1XP_054231928.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1

      UniProtKB/Swiss-Prot
      D3DS19, D3DS22, P07910, P22628, Q53EX2, Q59FD3, Q5FWE8, Q86SF8, Q86U45, Q96HK7, Q96HM4, Q96IY5, Q9BTS3
    14. XM_054375960.1XP_054231935.1  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2