HNRNPH1 - heterogeneous nuclear ribonucleoprotein H1 Gene

Also Known as HNRPH; HNRPH1; NEDCDS; hnRNPH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3187

About HNRNPH1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,614,178-179,634,784 (from NCBI)

This gene has 50 transcripts (splice variants), 1 gene allele, 143 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 153.8), lymph node (RPKM 101.7) and 25 other tissues.

Summary

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]

HNRNPH1 Products (52)

mRNA Protein Name
NM_001257293.2 NP_001244222.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001363572.2 NP_001350501.1 heterogeneous nuclear ribonucleoprotein H isoform b
NM_001364225.2 NP_001351154.1 heterogeneous nuclear ribonucleoprotein H isoform c
NM_001364226.2 NP_001351155.1 heterogeneous nuclear ribonucleoprotein H isoform c
NM_001364227.2 NP_001351156.1 heterogeneous nuclear ribonucleoprotein H isoform c
NM_001364228.2 NP_001351157.1 heterogeneous nuclear ribonucleoprotein H isoform c
NM_001364229.2 NP_001351158.1 heterogeneous nuclear ribonucleoprotein H isoform c
NM_001364230.2 NP_001351159.1 heterogeneous nuclear ribonucleoprotein H isoform d
NM_001364231.2 NP_001351160.1 heterogeneous nuclear ribonucleoprotein H isoform l
NM_001364232.2 NP_001351161.1 heterogeneous nuclear ribonucleoprotein H isoform d
NM_001364233.2 NP_001351162.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364234.2 NP_001351163.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364235.2 NP_001351164.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364236.2 NP_001351165.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364237.2 NP_001351166.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364238.2 NP_001351167.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364239.2 NP_001351168.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001364240.2 NP_001351169.1 heterogeneous nuclear ribonucleoprotein H isoform e
NM_001364241.2 NP_001351170.1 heterogeneous nuclear ribonucleoprotein H isoform f
NM_001364242.2 NP_001351171.1 heterogeneous nuclear ribonucleoprotein H isoform f
NM_001364243.2 NP_001351172.1 heterogeneous nuclear ribonucleoprotein H isoform f
NM_001364244.2 NP_001351173.1 heterogeneous nuclear ribonucleoprotein H isoform g
NM_001364245.2 NP_001351174.1 heterogeneous nuclear ribonucleoprotein H isoform b
NM_001364246.2 NP_001351175.1 heterogeneous nuclear ribonucleoprotein H isoform t
NM_001364247.2 NP_001351176.1 heterogeneous nuclear ribonucleoprotein H isoform t
NM_001364248.2 NP_001351177.1 heterogeneous nuclear ribonucleoprotein H isoform h
NM_001364250.2 NP_001351179.1 heterogeneous nuclear ribonucleoprotein H isoform i
NM_001364251.2 NP_001351180.1 heterogeneous nuclear ribonucleoprotein H isoform j
NM_001364252.2 NP_001351181.1 heterogeneous nuclear ribonucleoprotein H isoform j
NM_001364253.2 NP_001351182.1 heterogeneous nuclear ribonucleoprotein H isoform j
NM_001364254.2 NP_001351183.1 heterogeneous nuclear ribonucleoprotein H isoform k
NM_001364255.2 NP_001351184.1 heterogeneous nuclear ribonucleoprotein H isoform k
NM_001395176.1 NP_001382105.1 heterogeneous nuclear ribonucleoprotein H isoform l
NM_001395177.1 NP_001382106.1 heterogeneous nuclear ribonucleoprotein H isoform m
NM_001395178.1 NP_001382107.1 heterogeneous nuclear ribonucleoprotein H isoform n
NM_001395179.1 NP_001382108.1 heterogeneous nuclear ribonucleoprotein H isoform o
NM_001395180.1 NP_001382109.1 heterogeneous nuclear ribonucleoprotein H isoform o
NM_001395181.1 NP_001382110.1 heterogeneous nuclear ribonucleoprotein H isoform p
NM_001395182.1 NP_001382111.1 heterogeneous nuclear ribonucleoprotein H isoform a
NM_001395183.1 NP_001382112.1 heterogeneous nuclear ribonucleoprotein H isoform q
NM_001395184.1 NP_001382113.1 heterogeneous nuclear ribonucleoprotein H isoform r
NM_001395186.1 NP_001382115.1 heterogeneous nuclear ribonucleoprotein H isoform f
NM_001395187.1 NP_001382116.1 heterogeneous nuclear ribonucleoprotein H isoform g
NM_001395188.1 NP_001382117.1 heterogeneous nuclear ribonucleoprotein H isoform s
NM_001395189.1 NP_001382118.1 heterogeneous nuclear ribonucleoprotein H isoform b
NM_001395190.1 NP_001382119.1 heterogeneous nuclear ribonucleoprotein H isoform u
NM_001395191.1 NP_001382120.1 heterogeneous nuclear ribonucleoprotein H isoform v
NM_001395192.1 NP_001382121.1 heterogeneous nuclear ribonucleoprotein H isoform w
NM_001395193.1 NP_001382122.1 heterogeneous nuclear ribonucleoprotein H isoform x
NM_001395194.1 NP_001382123.1 heterogeneous nuclear ribonucleoprotein H isoform k
NM_001395195.1 NP_001382124.1 heterogeneous nuclear ribonucleoprotein H isoform y
NM_005520.3 NP_005511.1 heterogeneous nuclear ribonucleoprotein H isoform a
Molecular Function GO Annotation Evidence References Source
enables RNA binding IDA
IDA: Inferred from direct assay
16946708 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9111328 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of RNA splicing IDA
IDA: Inferred from direct assay
16946708 GOA
Cellular Component GO Annotation Evidence References Source
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
located in nucleus IDA
IDA: Inferred from direct assay
24910439 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HNRNPH1 Protein Structure

(14 - 84)

(113 - 182)

zf-RNPHF

zf-RNPHF: RNPHF zinc finger (255 - 290)

(291 - 358)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 449 a.a.
Protein Preferred Names Protein Names

heterogeneous nuclear ribonucleoprotein H

  • epididymis secretory sperm binding protein

HNRNPH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HNRNPH1 P31943 UBE2I Homo sapiens Q7KZS0 32296183
Intra
HNRNPH1 P31943 UBE2I Homo sapiens Q7KZS0 32296183
Intra
HNRNPH1 P31943 UBE2I Homo sapiens Q7KZS0 32296183
Intra
HNRNPH1 P31943 NFKBID Homo sapiens Q8NI38 32296183
Intra
HNRNPH1 P31943 NFKBID Homo sapiens Q8NI38 32296183
Intra
HNRNPH1 P31943 NFKBID Homo sapiens Q8NI38 32296183
Intra
HNRNPH1 P31943 POLR1C Homo sapiens O15160 32296183
Intra
HNRNPH1 P31943 ARHGEF16 Homo sapiens Q5VV41 32296183
Intra
HNRNPH1 P31943 PATZ1 Homo sapiens Q9HBE1-4 32296183
Intra
HNRNPH1 P31943 PATZ1 Homo sapiens Q9HBE1-4 32296183
Intra
HNRNPH1 P31943 PATZ1 Homo sapiens Q9HBE1-4 32296183
Intra
HNRNPH1 P31943 LMO3 Homo sapiens Q8TAP4-4 32296183
Intra
HNRNPH1 P31943 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
HNRNPH1 P31943 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
HNRNPH1 P31943 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
HNRNPH1 P31943 RBFOX2 Homo sapiens O43251-10 32296183
Intra
HNRNPH1 P31943 RBFOX2 Homo sapiens O43251-10 32296183
Intra
HNRNPH1 P31943 SAXO4 Homo sapiens Q7Z5V6-2 32296183
Intra
HNRNPH1 P31943 PEX5 Homo sapiens P50542-3 32296183
Intra
HNRNPH1 P31943 PEX5 Homo sapiens P50542-3 32296183
Intra
HNRNPH1 P31943 PEX5 Homo sapiens P50542-3 32296183
Intra
HNRNPH1 P31943 OXER1 Homo sapiens Q8TDS5 32296183
Intra
HNRNPH1 P31943 OXER1 Homo sapiens Q8TDS5 32296183
Intra
HNRNPH1 P31943 OXER1 Homo sapiens Q8TDS5 32296183
Intra
HNRNPH1 P31943 RNF4 Homo sapiens P78317 32296183
Intra
HNRNPH1 P31943 RNF4 Homo sapiens P78317 32296183
Intra
HNRNPH1 P31943 RNF4 Homo sapiens P78317 32296183
Intra
HNRNPH1 P31943 MSI2 Homo sapiens Q96DH6 35271311
Intra
HNRNPH1 P31943 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH1 P31943 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH1 P31943 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH1 P31943 MRPL53 Homo sapiens Q96EL3 35271311
Intra
HNRNPH1 P31943 MRPL53 Homo sapiens Q96EL3 32296183
Intra
HNRNPH1 P31943 RBM38 Homo sapiens Q9H0Z9 32296183
Intra
HNRNPH1 P31943 RBM38 Homo sapiens Q9H0Z9 32296183
Intra
HNRNPH1 P31943 RBM38 Homo sapiens Q9H0Z9 32296183
Intra
HNRNPH1 P31943 MYPOP Homo sapiens Q86VE0 32296183
Intra
HNRNPH1 P31943 NUDT16L1 Homo sapiens Q9BRJ7 32296183
Intra
HNRNPH1 P31943 NUDT16L1 Homo sapiens Q9BRJ7 35271311
Intra
HNRNPH1 P31943 HNRNPF Homo sapiens P52597 32296183
Intra
HNRNPH1 P31943 HNRNPM Homo sapiens P52272 32296183
Intra
HNRNPH1 P31943 HNRNPM Homo sapiens P52272 32296183
Intra
HNRNPH1 P31943 HNRNPF Homo sapiens P52597 35271311
Intra
HNRNPH1 P31943 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPH1 P31943 TARDBP Homo sapiens Q13148 29725819
Intra
HNRNPH1 P31943 HNRNPM Homo sapiens P52272 32296183
Intra
HNRNPH1 P31943 HNRNPM Homo sapiens P52272 35271311
Intra
HNRNPH1 P31943 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPH1 P31943 HNRNPA1 Homo sapiens P09651 35271311
Intra
HNRNPH1 P31943 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPH1 P31943 GPS2 Homo sapiens Q13227 32296183
Intra
HNRNPH1 P31943 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
HNRNPH1 P31943 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
HNRNPH1 P31943 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
HNRNPH1 P31943 LNX1 Homo sapiens Q8TBB1 32296183
Intra
HNRNPH1 P31943 LNX1 Homo sapiens Q8TBB1 32296183
Intra
HNRNPH1 P31943 LNX1 Homo sapiens Q8TBB1 32296183
Intra
HNRNPH1 P31943 SPG21 Homo sapiens Q9NZD8 32296183
Intra
HNRNPH1 P31943 RAMAC Homo sapiens Q9BTL3 32296183
Intra
HNRNPH1 P31943 ENKD1 Homo sapiens Q9H0I2 32296183
Intra
HNRNPH1 P31943 CATSPER1 Homo sapiens Q8NEC5 32296183
Intra
HNRNPH1 P31943 CCDC120 Homo sapiens Q96HB5 32296183
Intra
HNRNPH1 P31943 DDX17 Homo sapiens Q92841 32296183
Intra
HNRNPH1 P31943 DDX17 Homo sapiens Q92841 32296183
Intra
HNRNPH1 P31943 DDX17 Homo sapiens Q92841 32296183
Intra
HNRNPH1 P31943 TEKT4 Homo sapiens Q8WW24 32296183
Intra
HNRNPH1 P31943 TEKT3 Homo sapiens Q9BXF9 32296183
Intra
HNRNPH1 P31943 DZIP3 Homo sapiens Q86Y13 32296183
Intra
HNRNPH1 P31943 DZIP3 Homo sapiens Q86Y13 32296183
Intra
HNRNPH1 P31943 DZIP3 Homo sapiens Q86Y13 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HNRNPH1 Proteins

Cat. No. Product Name Accession Purity
HY-P72233 HNRNPH1 Protein, Human (His-SUMO) P31943 (M2-A449) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
  • NEDCDS

Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

  • Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

Bain Type Of X-Linked Syndromic Intellectual Disability
  • Intellectual Disability, X-Linked, Syndromic, Bain Type

  • Hnrnph2 Deficiency

Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
  • MRXSB

  • Mental Retardation, X-Linked, Syndromic, Bain Type

  • Intellectual Developmental Disorder, X-Linked Syndromic, Bain Type

Hereditary Lymphedema
  • Milroy Disease

Myotonic Disease
  • Myotonic Disorders

  • Myotonic Syndrome

  • Symptomatic Myotonia

Myotonic Dystrophy 2
  • Myotonic Dystrophy Type 2

  • Proximal Myotonic Myopathy

  • Promm

  • Ricker Syndrome

  • DM2

  • Dystrophia Myotonica 2

  • Myotonic Myopathy, Proximal

  • Myotonic Disorders

  • Dystrophia Myotonica Type 2

  • Proximal Myotonic Dystrophy

  • Ricker Disease

  • Myotonic Dystrophy, Type 2

  • Dystrophy, Myotonic, Type 2

Burkitt Lymphoma
  • Burkitt'S Lymphoma

  • BL

  • Burkitt Lymphoma, Somatic

  • Burkitt Lymphoma/Leukaemia

  • Burkitt'S Tumor

  • Burkitt'S Tumor Or Lymphoma

  • Malignant Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma

  • Burkitt Tumor

  • Burkitts Lymphoma

  • Lymphoma, Small Noncleaved-Cell

  • Burkitt Tumour

  • Diffuse Small Noncleaved Malignant Burkitt Lymphoma

  • Malignant Burkitt Lymphoma

  • “Burkitt-Like” Lymphoma

  • Undifferentiated Burkitt Lymphoma

  • Small Noncleaved Cell Burkitt Lymphoma

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

Spinocerebellar Ataxia 8
  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8

Fragile X-Associated Tremor/Ataxia Syndrome
  • Fxtas Syndrome

  • Fragile X Tremor/Ataxia Syndrome

  • Fxtas

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HNRNPH1 RGD RGD:620840
Mus musculus HNRNPH1 MGD MGI:1891925
Canis familiaris HNRNPH1 VGNC VGNC:51723
Felis catus HNRNPH1 VGNC VGNC:67607
Bos taurus HNRNPH1 VGNC VGNC:52245
Macaca mulatta HNRNPH1 VGNC VGNC:84387
Others HNRNPH1 NCBI