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

Gene ID: 3183, updated on 7-Apr-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
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Genomic context

Location:
14q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21209147..21269442, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15406559..15466855, complement)
105.20220307 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
  • 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: CN376303 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_2023_10

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