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    HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 [ Homo sapiens (human) ]

    Gene ID: 220988, updated on 3-Nov-2024

    Summary

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    Official Symbol
    HNRNPA3provided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein A3provided by HGNC
    Primary source
    HGNC:HGNC:24941
    See related
    Ensembl:ENSG00000170144 MIM:605372; AllianceGenome:HGNC:24941
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FBRNP; HNRPA3; D10S102; 2610510D13Rik
    Summary
    Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in nucleus. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in appendix (RPKM 56.8), lymph node (RPKM 56.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HNRNPA3 in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177212794..177223959)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (177695036..177706189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178077522..178088687)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178062767-178063304 Neighboring gene keratin 8 pseudogene 40 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178068917-178069879 Neighboring gene uncharacterized LOC105373759 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178077489-178078160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12143 Neighboring gene microRNA 4444-1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5 Neighboring gene NFE2 like bZIP transcription factor 2 Neighboring gene microRNA 3128

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis. Fifita JA, et al. Neurodegener Dis, 2017. PMID 29131108
    2. Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene. Davidson YS, et al. Acta Neuropathol Commun, 2017 Apr 21. PMID 28431575, Free PMC Article
    3. Telomeric DNA-binding activities of heterogeneous nuclear ribonucleoprotein A3 in vitro and in vivo. Huang PR, et al. Biochim Biophys Acta, 2010 Oct. PMID 20600361
    4. Heterogeneous nuclear ribonucleoprotein A3 binds single-stranded telomeric DNA and inhibits telomerase extension in vitro. Huang PR, et al. Biochim Biophys Acta, 2008 Feb. PMID 17919748
    5. A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus. Lairmore TC, et al. Proc Natl Acad Sci U S A, 1993 Jan 15. PMID 8093642, Free PMC Article

    See all (269) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epidermal progenitors suppress GRHL3-mediated differentiation through intronic polyadenylation promoted by CPSF-HNRNPA3 collaboration.
      Title: Epidermal progenitors suppress GRHL3-mediated differentiation through intronic polyadenylation promoted by CPSF-HNRNPA3 collaboration.
    2. Heterogeneous nuclear ribonucleoprotein A3 controls mitotic progression of neural progenitors via interaction with cohesin.
      Title: Heterogeneous nuclear ribonucleoprotein A3 controls mitotic progression of neural progenitors via interaction with cohesin.
    3. results indicated a specific interaction of A3B with hnRNP A3 (heterogeneous nuclear ribonucleoprotein). This interaction was verified by co-immunoprecipitation and was found to be RNA-dependent. Furthermore, A3B and hnRNP A3 colocalized as evident from immunofluorescence analysis.
      Title: Human APOBEC3B interacts with the heterogenous nuclear ribonucleoprotein A3 in cancer cells.
    4. This study showed that HNRNPA3 variants identified in Australian patients with familial amyotrophic lateral sclerosis (FALS) and associated alternate allele frequencies in cases and controls.
      Title: Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
    5. Study investigated the pattern of hnRNP A1, A2/B1 and A3 immunostaining across a range of clinical, pathological and genetic forms of Frontotemporal Lobar Degeneration and Motor Neurone Disease. Data suggest there might be a derangement of movement of hnRNP A1, and other hnRNP proteins, across all pathological forms of Frontotemporal Lobar Degeneration beyond that involving just TDP-43 or FUS.
      Title: Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.
    6. Neurons in the hippocampus of C9orf72 patients are frequently devoid of hnRNPA3. Reduced nuclear hnRNPA3 in the hippocampus of patients with extended C9orf72 repeats correlates with increased DPR deposition.
      Title: Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.
    7. The results of this study suggested that mutations in hnRNPA1, A2/B1, and A3 genes are a rare finding in amyotrophic lateral sclerosis.
      Title: Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.
    8. characterization of hnRNP A3 in human and mouse cell lines
      Title: Expression profile and interactions of hnRNP A3 within hnRNP/mRNP complexes in mammals.
    9. Results suggest that hnRNP A3 is associated with telomere in vivo and acts as a negative regulator of telomere length maintenance.
      Title: Telomeric DNA-binding activities of heterogeneous nuclear ribonucleoprotein A3 in vitro and in vivo.
    10. These biochemical properties of hnRNP A3 suggest that hnRNP A3 can participate in telomere regulation in vivo.
      Title: Heterogeneous nuclear ribonucleoprotein A3 binds single-stranded telomeric DNA and inhibits telomerase extension in vitro.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), 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 A3 (HNRNPA3), 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 A3 (HNRNPA3), 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 A3 (HNRNPA3), 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 A3 (HNRNPA3), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa. The interaction of Rev with HNRNPA3 is increased by RRE PubMed
    Tat tat Expression of HIV-1 Tat upregulates the abundance of heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138232, MGC142030

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ribonucleoprotein complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heterogeneous nuclear ribonucleoprotein A3
    Names
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001330247.2 → NP_001317176.1  heterogeneous nuclear ribonucleoprotein A3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS82536.1
      UniProtKB/TrEMBL
      A0A7I2V4G0, B4DDB6, D3DPF5
      Related
      ENSP00000408487.1, ENST00000411529.6
      Conserved Domains (3) summary
      pfam11627
      Location:309 → 325
      HnRNPA1; Nuclear factor hnRNPA1
      cd12582
      Location:104 → 183
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins
      cd12763
      Location:11 → 91
      RRM1_hnRNPA3; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    2. NM_001330248.2 → NP_001317177.1  heterogeneous nuclear ribonucleoprotein A3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS82536.1
      UniProtKB/TrEMBL
      A0A7I2V4G0, B4DDB6, D3DPF5
      Related
      ENSP00000503186.1, ENST00000676874.1
      Conserved Domains (3) summary
      pfam11627
      Location:309 → 325
      HnRNPA1; Nuclear factor hnRNPA1
      cd12582
      Location:104 → 183
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins
      cd12763
      Location:11 → 91
      RRM1_hnRNPA3; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    3. NM_001330249.2 → NP_001317178.1  heterogeneous nuclear ribonucleoprotein A3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS2273.1
      UniProtKB/Swiss-Prot
      D3DPF4, P51991, Q53RW7, Q6URK5
      UniProtKB/TrEMBL
      A0A384NL63, A0A7I2V402
      Related
      ENSP00000504135.1, ENST00000678111.1
      Conserved Domains (3) summary
      pfam11627
      Location:331 → 347
      HnRNPA1; Nuclear factor hnRNPA1
      cd12578
      Location:36 → 113
      RRM1_hnRNPA_like; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A subfamily
      cd12582
      Location:126 → 205
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    4. NM_001330250.2 → NP_001317179.1  heterogeneous nuclear ribonucleoprotein A3 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS92902.1
      UniProtKB/TrEMBL
      A0A7I2V2R3, A0A7I2V5D8
      Related
      ENSP00000504649.1, ENST00000677043.1
      Conserved Domains (3) summary
      pfam11627
      Location:285 → 300
      HnRNPA1; Nuclear factor hnRNPA1
      cd12578
      Location:36 → 113
      RRM1_hnRNPA_like; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A subfamily
      cd12582
      Location:126 → 205
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    5. NM_001330251.2 → NP_001317180.1  heterogeneous nuclear ribonucleoprotein A3 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS92902.1
      UniProtKB/TrEMBL
      A0A7I2V2R3, A0A7I2V5D8
      Related
      ENSP00000503339.1, ENST00000676681.1
      Conserved Domains (3) summary
      pfam11627
      Location:285 → 300
      HnRNPA1; Nuclear factor hnRNPA1
      cd12578
      Location:36 → 113
      RRM1_hnRNPA_like; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A subfamily
      cd12582
      Location:126 → 205
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    6. NM_001395170.1 → NP_001382099.1  heterogeneous nuclear ribonucleoprotein A3 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC079305
      UniProtKB/TrEMBL
      B4E3E6
      Conserved Domains (2) summary
      smart00360
      Location:14 → 84
      RRM; RNA recognition motif
      cl17169
      Location:105 → 179
      RRM_SF; RNA recognition motif (RRM) superfamily

    7. NM_194247.4 → NP_919223.1  heterogeneous nuclear ribonucleoprotein A3 isoform a

      See identical proteins and their annotated locations for NP_919223.1

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Consensus CDS
      CCDS2273.1
      UniProtKB/Swiss-Prot
      D3DPF4, P51991, Q53RW7, Q6URK5
      UniProtKB/TrEMBL
      A0A384NL63, A0A7I2V402
      Related
      ENSP00000376309.2, ENST00000392524.7
      Conserved Domains (3) summary
      pfam11627
      Location:331 → 347
      HnRNPA1; Nuclear factor hnRNPA1
      cd12578
      Location:36 → 113
      RRM1_hnRNPA_like; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A subfamily
      cd12582
      Location:126 → 205
      RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

    RNA

    1. NR_138470.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079305
      Related
      ENST00000483137.2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      177212794..177223959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      177695036..177706189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51991.2 GenPept UniProtKB/Swiss-Prot:P51991

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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