HNRNPH1
Heterogeneous nuclear ribonucleoprotein H
Also known as: HNRH1_HUMAN, hnRNPH, HNRPH1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31943
- Gene
- HNRNPH1
- Ensembl
- ENSG00000169045
- Chromosome
- 5
- Canonical length
- 449 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. 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 may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
449 residues, UniProt reviewed canonical sequence.
>P31943|HNRNPH1
1 MMLGTEGGEG FVVKVRGLPW SCSADEVQRF FSDCKIQNGA QGIRFIYTRE GRPSGEAFVE
61 LESEDEVKLA LKKDRETMGH RYVEVFKSNN VEMDWVLKHT GPNSPDTAND GFVRLRGLPF
121 GCSKEEIVQF FSGLEIVPNG ITLPVDFQGR STGEAFVQFA SQEIAEKALK KHKERIGHRY
181 IEIFKSSRAE VRTHYDPPRK LMAMQRPGPY DRPGAGRGYN SIGRGAGFER MRRGAYGGGY
241 GGYDDYNGYN DGYGFGSDRF GRDLNYCFSG MSDHRYGDGG STFQSTTGHC VHMRGLPYRA
301 TENDIYNFFS PLNPVRVHIE IGPDGRVTGE ADVEFATHED AVAAMSKDKA NMQHRYVELF
361 LNSTAGASGG AYEHRYVELF LNSTAGASGG AYGSQMMGGM GLSNQSSYGG PASQQLSGGY
421 GGGYGGQSSM SGYDQVLQEN SSDFQSNIALocalizationUniProt · AlphaFold · HPA
Whether an antibody against HNRNPH1 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)
- 0.48
- Highest tissue expression
- 230 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 230 nTPM
- spleen: 208 nTPM
- thymus: 201 nTPM
- choroid plexus: 192 nTPM
- lymph node: 166 nTPM
- cerebellum: 162 nTPM
Single-cell type
- microglia: 366 nCPM
- basal keratinocytes: 293 nCPM
- gastric chief cells: 291 nCPM
- mucous neck cells: 265 nCPM
- choroid plexus epithelial cells: 245 nCPM
- suprabasal keratinocytes: 233 nCPM
Immune cell
- plasmacytoid DC: 91 nTPM
- naive CD8 T-cell: 88 nTPM
- MAIT T-cell: 83 nTPM
- naive CD4 T-cell: 83 nTPM
- T-reg: 83 nTPM
- intermediate monocyte: 75 nTPM
Brain region
- cerebellum: 89 nTPM
- choroid plexus: 75 nTPM
- cerebral cortex: 66 nTPM
- basal ganglia: 63 nTPM
- hypothalamus: 61 nTPM
- thalamus: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HNRNPH1.
Disease | AllUniProt
Conditions HNRNPH1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) MIM:620083
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 116 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- Intellectual disability, X-linked, syndromic, Bain type
- Inborn genetic diseases
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)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.09
- DepMap mean gene effect
- -1.13
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HNRNPH1 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 HNRNPH1 as an antibody target. Whether an autoantibody or antibody against HNRNPH1 could matter depends on whether native HNRNPH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HNRNPH1 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 HNRNPH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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