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    HNRNPLL heterogeneous nuclear ribonucleoprotein L like [ Homo sapiens (human) ]

    Gene ID: 92906, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HNRNPLLprovided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein L likeprovided by HGNC
    Primary source
    HGNC:HGNC:25127
    See related
    Ensembl:ENSG00000143889 MIM:611208; AllianceGenome:HGNC:25127
    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
    SRRF; HNRPLL
    Summary
    HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
    Expression
    Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HNRNPLL in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38561969..38602928, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38568882..38609841, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38789111..38830070, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15607 Neighboring gene long intergenic non-protein coding RNA 1883 Neighboring gene long intergenic non-protein coding RNA 2613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38703635-38704136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11373 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38763105-38763715 Neighboring gene Sharpr-MPRA regulatory region 10245 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38779519-38779723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11378 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1526 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893008-38893520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893521-38894033 Neighboring gene uncharacterized LOC124905993 Neighboring gene Sharpr-MPRA regulatory region 4561 Neighboring gene galactose mutarotase Neighboring gene MPRA-validated peak3666 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15609 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38967980-38968152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11381 Neighboring gene serine and arginine rich splicing factor 7

    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
    • 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. Tumor-associated intronic editing of HNRPLL generates a novel splicing variant linked to cell proliferation. Chen YT, et al. J Biol Chem, 2018 Jun 29. PMID 29769310, Free PMC Article
    2. Alternatively spliced isoforms of a novel stromal RNA regulating factor. Shur I, et al. Gene, 2004 Jun 9. PMID 15256261
    3. Multilevel Differential Control of Hormone Gene Expression Programs by hnRNP L and LL in Pituitary Cells. Lei L, et al. Mol Cell Biol, 2018 Jun 15. PMID 29610151, Free PMC Article
    4. A cell-based screen for splicing regulators identifies hnRNP LL as a distinct signal-induced repressor of CD45 variable exon 4. Topp JD, et al. RNA, 2008 Oct. PMID 18719244, Free PMC Article
    5. MYB mediates downregulation of the colorectal cancer metastasis suppressor heterogeneous nuclear ribonucleoprotein L-like during epithelial-mesenchymal transition. Sakuma K, et al. Cancer Sci, 2021 Sep. PMID 34286904, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYB mediates downregulation of the colorectal cancer metastasis suppressor heterogeneous nuclear ribonucleoprotein L-like during epithelial-mesenchymal transition.
      Title: MYB mediates downregulation of the colorectal cancer metastasis suppressor heterogeneous nuclear ribonucleoprotein L-like during epithelial-mesenchymal transition.
    2. The findings demonstrate that the hnRNP L and LL proteins differentially control gene expression programs at multiple levels in the production of two physiologically important hormones.
      Title: Multilevel Differential Control of Hormone Gene Expression Programs by hnRNP L and LL in Pituitary Cells.
    3. intronic editing of HNRPLL generates a novel splicing variant linked to cell proliferation
      Title: Tumor-associated intronic editing of HNRPLL generates a novel splicing variant linked to cell proliferation.
    4. Loss-of-function mutation of hnRNPLL disrupts peripheral T cell accumulation even in the absence of CD45 protein, indicating that hnRNPLL acts through an independent mechanism to promote peripheral T cell longevity.
      Title: Consequences of increased CD45RA and RC isoforms for TCR signaling and peripheral T cell deficiency resulting from heterogeneous nuclear ribonucleoprotein L-like mutation.
    5. identification of heterogeneous ribonucleoprotein L-like (hnRNPLL) as a critical inducible regulator of CD45 alternative splicing
      Title: Regulation of CD45 alternative splicing by heterogeneous ribonucleoprotein, hnRNPLL.
    6. These data establish that hnRNP LL plays a critical and unique role in the signal-induced regulation of CD45 and demonstrate the utility of cell-based screens for the identification of novel splicing regulatory factors.
      Title: A cell-based screen for splicing regulators identifies hnRNP LL as a distinct signal-induced repressor of CD45 variable exon 4.
    7. Participation of SRRF (Stromal RNA Regulating Factor) isoforms in post-transcriptional events in bone marrow stromal cells; an important role in regulation of the RNA expression that directs the bone marrow stromal cells differentiation pathway
      Title: Alternatively spliced isoforms of a novel stromal RNA regulating factor.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heterogeneous nuclear ribonucleoprotein L-like
    Names
    stromal RNA regulating factor

    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_001142650.2 → NP_001136122.1  heterogeneous nuclear ribonucleoprotein L-like isoform 2

      See identical proteins and their annotated locations for NP_001136122.1

      Status: VALIDATED

      Description
      Transcript Variant: Compared to variant 1, this variant (2) lacks a segment of the 5' UTR which results in the use of an alternative translation initiation site. These differences result in a protein (isoform 2) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC011247, AK000155, AK292259, BM972334
      Consensus CDS
      CCDS46261.1
      UniProtKB/TrEMBL
      A8K894
      Related
      ENSP00000387088.1, ENST00000409636.5
      Conserved Domains (1) summary
      TIGR01649
      Location:69 → 536
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family

    2. NM_138394.4 → NP_612403.2  heterogeneous nuclear ribonucleoprotein L-like isoform 1

      See identical proteins and their annotated locations for NP_612403.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011247, AK000155, BC017480, BM972334, DA760455
      Consensus CDS
      CCDS1796.2
      UniProtKB/Swiss-Prot
      Q53T80, Q5JB51, Q5JB52, Q659B9, Q8IVH5, Q8IVH6, Q8WVV9, Q96HR5
      UniProtKB/TrEMBL
      A0A0S2Z6K1, A8K894
      Related
      ENSP00000390625.3, ENST00000449105.8
      Conserved Domains (1) summary
      TIGR01649
      Location:74 → 541
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family

    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
      38561969..38602928 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264640.4 → XP_005264697.2  heterogeneous nuclear ribonucleoprotein L-like isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5U3
      Conserved Domains (6) summary
      COG0724
      Location:10 → 123
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12700
      Location:331 → 401
      RRM3_hnRPLL; RNA recognition motif 3 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12781
      Location:68 → 151
      RRM1_hnRPLL; RNA recognition motif 1 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12786
      Location:160 → 255
      RRM2_hnRPLL; RNA recognition motif 2 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      TIGR01649
      Location:69 → 519
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
      cl17169
      Location:447 → 519
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. XM_011533165.4 → XP_011531467.1  heterogeneous nuclear ribonucleoprotein L-like isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z5U3
      Conserved Domains (6) summary
      COG0724
      Location:15 → 128
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12700
      Location:312 → 382
      RRM3_hnRPLL; RNA recognition motif 3 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12781
      Location:73 → 156
      RRM1_hnRPLL; RNA recognition motif 1 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12786
      Location:165 → 260
      RRM2_hnRPLL; RNA recognition motif 2 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      TIGR01649
      Location:74 → 500
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
      cl17169
      Location:428 → 500
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. XM_005264639.5 → XP_005264696.2  heterogeneous nuclear ribonucleoprotein L-like isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5U3
      Conserved Domains (6) summary
      COG0724
      Location:15 → 128
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12700
      Location:336 → 406
      RRM3_hnRPLL; RNA recognition motif 3 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12781
      Location:73 → 156
      RRM1_hnRPLL; RNA recognition motif 1 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12786
      Location:165 → 260
      RRM2_hnRPLL; RNA recognition motif 2 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      TIGR01649
      Location:74 → 524
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
      cl17169
      Location:452 → 524
      RRM_SF; RNA recognition motif (RRM) superfamily

    4. XM_047446341.1 → XP_047302297.1  heterogeneous nuclear ribonucleoprotein L-like isoform X5

    5. XM_011533166.4 → XP_011531468.1  heterogeneous nuclear ribonucleoprotein L-like isoform X4

      UniProtKB/TrEMBL
      A8K894
      Conserved Domains (6) summary
      COG0724
      Location:15 → 128
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12700
      Location:336 → 406
      RRM3_hnRPLL; RNA recognition motif 3 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12781
      Location:73 → 156
      RRM1_hnRPLL; RNA recognition motif 1 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      cd12786
      Location:165 → 260
      RRM2_hnRPLL; RNA recognition motif 2 in vertebrate heterogeneous nuclear ribonucleoprotein L-like (hnRNP-LL)
      TIGR01649
      Location:74 → 524
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
      cl17169
      Location:452 → 524
      RRM_SF; RNA recognition motif (RRM) superfamily

    6. XM_047446342.1 → XP_047302298.1  heterogeneous nuclear ribonucleoprotein L-like isoform X6

      Related
      ENSP00000386695.1, ENST00000410076.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38568882..38609841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344571.1 → XP_054200546.1  heterogeneous nuclear ribonucleoprotein L-like isoform X2

    2. XM_054344572.1 → XP_054200547.1  heterogeneous nuclear ribonucleoprotein L-like isoform X3

    3. XM_054344570.1 → XP_054200545.1  heterogeneous nuclear ribonucleoprotein L-like isoform X1

    4. XM_054344574.1 → XP_054200549.1  heterogeneous nuclear ribonucleoprotein L-like isoform X5

    5. XM_054344573.1 → XP_054200548.1  heterogeneous nuclear ribonucleoprotein L-like isoform X4

    6. XM_054344575.1 → XP_054200550.1  heterogeneous nuclear ribonucleoprotein L-like isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVV9.1 GenPept UniProtKB/Swiss-Prot:Q8WVV9

    Gene LinkOut

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

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