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

Gene ID: 92906, updated on 3-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
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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 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

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