HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like
Also known as: HNRDL_HUMAN, HNRPDL, JKTBP, laAUF1, LGMD1G
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14979
- Gene
- HNRNPDL
- Ensembl
- ENSG00000152795
- Chromosome
- 4
- Canonical length
- 420 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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 has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
Canonical amino-acid sequenceUniProt
420 residues, UniProt reviewed canonical sequence.
>O14979|HNRNPDL
1 MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
61 VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
121 EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
181 TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
241 SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
301 GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF NNYYDQGYGN
361 YNSAYGGDQN YSGYGGYDYT GYNYGNYGYG QGYADYSGQQ STYGKASRGG GNHQNNYQPYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HNRNPDL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 382 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 382 nTPM
- skeletal muscle: 376 nTPM
- ovary: 348 nTPM
- blood vessel: 289 nTPM
- endometrium: 284 nTPM
- lung: 278 nTPM
Single-cell type
- extravillous trophoblasts: 713 nCPM
- migrating cytotrophoblasts: 681 nCPM
- cytotrophoblasts: 579 nCPM
- oocytes: 566 nCPM
- syncytiotrophoblasts: 554 nCPM
- esophageal basal cells: 553 nCPM
Immune cell
- non-classical monocyte: 78 nTPM
- naive CD4 T-cell: 75 nTPM
- naive CD8 T-cell: 66 nTPM
- memory B-cell: 64 nTPM
- naive B-cell: 62 nTPM
- gdT-cell: 61 nTPM
Brain region
- white matter: 301 nTPM
- medulla oblongata: 241 nTPM
- hypothalamus: 237 nTPM
- basal ganglia: 233 nTPM
- pons: 224 nTPM
- midbrain: 223 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HNRNPDL.
Disease | AllUniProt
Conditions HNRNPDL is implicated in, by any mechanism.
- Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) MIM:609115
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 503 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.55
- gnomAD pLI
- 0.08
- gnomAD missense Z
- 0.7
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA binding
- double-stranded DNA binding
- poly(A) binding
- poly(G) binding
- RNA binding
- single-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HNRNPDL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HNRNPDL as an antibody target. Whether an autoantibody or antibody against HNRNPDL could matter depends on whether native HNRNPDL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HNRNPDL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HNRNPDL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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