HNRNPDL - heterogeneous nuclear ribonucleoprotein D like Gene

Also Known as HNRNP; JKTBP; HNRPDL; JKTBP2; LGMD1G; LGMDD3; laAUF1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9987

About HNRNPDL

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,422,564-82,430,462 (from NCBI)

This gene has 10 transcripts (splice variants), 166 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 71.3), endometrium (RPKM 57.4) and 25 other tissues.

Summary

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]

HNRNPDL Products (2)

mRNA Protein Name
NM_001207000.1 NP_001193929.1 heterogeneous nuclear ribonucleoprotein D-like isoform b
NM_031372.4 NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like isoform a

HNRNPDL Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (151 - 218)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (235 - 296)

  • 0
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  • 400
  • 420 a.a.
Protein Preferred Names Protein Names

heterogeneous nuclear ribonucleoprotein D-like

  • A+U-rich element RNA binding factor

HNRNPDL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HNRNPDL O14979 HNRNPD Homo sapiens Q14103 30021884
Intra
HNRNPDL O14979 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPDL O14979 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPDL O14979 TARDBP Homo sapiens Q13148 32814053
Intra
HNRNPDL O14979 WFS1 Homo sapiens O76024 32814053
Intra
HNRNPDL O14979 WFS1 Homo sapiens O76024 32814053
Intra
HNRNPDL O14979 WFS1 Homo sapiens O76024 32814053
Intra
HNRNPDL O14979 SF1 Homo sapiens Q15637 26420826
Intra
HNRNPDL O14979 SNRPC Homo sapiens P09234 32296183
Intra
HNRNPDL O14979 SNRPC Homo sapiens P09234 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
  • Lgmd1g

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

  • LGMDD3

  • Muscular Dystrophy, Limb-Girdle, Type 1g

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

  • Limb-Girdle Muscular Dystrophy, Type 1g

  • Muscular Dystrophy Limb-Girdle Type 1g

  • Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3

  • Hnrnpdl-Related Lgmd D3

  • Lgmd Type 1g

  • Limb-Girdle Muscular Dystrophy Type 1g

  • Limb-Girdle Muscular Dystrophy 1g

  • Dystrophy, Muscular, Limb-Girdle, Type 1g

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Mixed Connective Tissue Disease
  • Sharp Syndrome

  • Mctd

  • Connective Tissue Disease Overlap Syndrome

  • Mixed Collagen Vascular Disease

  • Mctd - [Mixed Connective Tissue Disease]

Multisystem Proteinopathy
Chromosome 4q21 Deletion Syndrome
  • 4q21 Microdeletion Syndrome

  • Monosomy 4q21

  • Del(4)(Q21)

  • Chromosome Deletion Syndrome 4q21

Autosomal Dominant Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
  • Lgmd2b

  • Muscular Dystrophy, Limb-Girdle, Type 2b

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

  • Beta-Sarcoglycanopathy

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

  • Muscular Dystrophy, Limb-Girdle, Type 3

  • Lgmd3

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

  • LGMDR2

  • Muscular Dystrophy, Limb-Girdle, Type 2s

  • Limb-Girdle Muscular Dystrophy Type 2b

  • Lgmd2e

  • Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2e

  • Lgmd2s

  • Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

  • Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

  • Lgmd2y

  • Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

  • Muscular Dystrophy, Limb-Girdle, Type 2y

  • Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

  • Dysferlin-Related Lgmd R2

  • Lgmd Due To Dysferlin Deficiency

  • Lgmd Type 2b

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy 2b

  • Limb-Girdle Muscular Dystrophy, Type 2b

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

  • Dystrophy, Muscular, Limb-Girdle, Type 2b

  • Limb-Girdle Muscular Dystrophy, Type 2e

X-Linked Hereditary Ataxia
Fragile X-Associated Tremor/Ataxia Syndrome
  • Fxtas Syndrome

  • Fragile X Tremor/Ataxia Syndrome

  • Fxtas

Colon Adenocarcinoma
  • Adenocarcinoma Of Colon

  • Adenocarcinoma Of The Colon

  • Colonic Adenocarcinoma

Myopathy
  • Muscular Diseases

  • Myopathies

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

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

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

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

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Felis catus HNRNPDL VGNC VGNC:78508
Canis familiaris HNRNPDL VGNC VGNC:41729
Mus musculus HNRNPDL MGD MGI:1355299
Bos taurus HNRNPDL VGNC VGNC:29895
Rattus norvegicus HNRNPDL RGD RGD:1309950
Macaca mulatta HNRNPDL VGNC VGNC:81186
Others HNRNPDL NCBI