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Protein

Heterogeneous nuclear ribonucleoprotein D-like

Gene

HNRNPDL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence.By similarity1 Publication

GO - Molecular functioni

  • double-stranded DNA binding Source: UniProtKB
  • poly(A) binding Source: UniProtKB
  • poly(G) binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • sequence-specific DNA binding Source: GO_Central
  • sequence-specific double-stranded DNA binding Source: GO_Central
  • single-stranded DNA binding Source: UniProtKB

GO - Biological processi

  • interleukin-12-mediated signaling pathway Source: Reactome
  • regulation of gene expression Source: UniProtKB
  • RNA processing Source: UniProtKB

Keywordsi

Molecular functionActivator, DNA-binding, Repressor, RNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Names & Taxonomyi

Protein namesi
Recommended name:
Heterogeneous nuclear ribonucleoprotein D-like
Short name:
hnRNP D-like
Short name:
hnRNP DL
Alternative name(s):
AU-rich element RNA-binding factor
JKT41-binding protein
Protein laAUF1
Gene namesi
Name:HNRNPDL
Synonyms:HNRPDL, JKTBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000152795.17
HGNCiHGNC:5037 HNRNPDL
MIMi607137 gene
neXtProtiNX_O14979

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 1G (LGMD1G)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD1G is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50.
See also OMIM:609115
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072567378D → H in LGMD1G. 1 PublicationCorresponds to variant dbSNP:rs587777669EnsemblClinVar.1
Natural variantiVAR_072568378D → N in LGMD1G. 1 PublicationCorresponds to variant dbSNP:rs587777669EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi404G → A: Reduces significantly its nuclear localization. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi9987
MalaCardsiHNRNPDL
MIMi609115 phenotype
OpenTargetsiENSG00000152795
Orphaneti55596 Autosomal dominant limb-girdle muscular dystrophy type 1G
PharmGKBiPA29362

Polymorphism and mutation databases

BioMutaiHNRNPDL

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002872391 – 420Heterogeneous nuclear ribonucleoprotein D-likeAdd BLAST420

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25Omega-N-methylarginineCombined sources1
Modified residuei161N6-methyllysine1 Publication1
Cross-linki209Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei216N6-acetyllysineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei408Dimethylated arginine; alternate1 Publication1
Modified residuei408Omega-N-methylarginine; alternateBy similarity1

Post-translational modificationi

Dimethylation of Arg-408 is probably of the asymmetric type.

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO14979
MaxQBiO14979
PaxDbiO14979
PeptideAtlasiO14979
PRIDEiO14979
ProteomicsDBi48353
48354 [O14979-2]
48355 [O14979-3]

PTM databases

iPTMnetiO14979
PhosphoSitePlusiO14979
SwissPalmiO14979

Expressioni

Tissue specificityi

Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. Expressed in myeloid leukemia, gastric adenocarcinoma, cervical carcinoma, hepatoma, fibrosarcoma, colon adenocarcinoma, epidermoid carcinoma, osteosarcoma and urinary bladder carcinoma cells.2 Publications

Inductioni

Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in macrophages and retinoic acid (RA) in granulocytes (at protein level). Down-regulated by IL4/interleukin-4.2 Publications

Gene expression databases

BgeeiENSG00000152795 Expressed in 233 organ(s), highest expression level in substantia nigra
CleanExiHS_HNRPDL
ExpressionAtlasiO14979 baseline and differential
GenevisibleiO14979 HS

Organism-specific databases

HPAiHPA056820
HPA063147

Interactioni

Subunit structurei

Interacts with ZNF148 (By similarity). Interacts with TNPO1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SF1Q156374EBI-299727,EBI-744603

Protein-protein interaction databases

BioGridi115308, 127 interactors
CORUMiO14979
IntActiO14979, 48 interactors
MINTiO14979
STRINGi9606.ENSP00000295470

Structurei

3D structure databases

ProteinModelPortaliO14979
SMRiO14979
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini148 – 230RRM 1PROSITE-ProRule annotationAdd BLAST83
Domaini233 – 312RRM 2PROSITE-ProRule annotationAdd BLAST80

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni342 – 420Necessary for interaction with TNPO11 PublicationAdd BLAST79
Regioni396 – 420Necessary for its nuclear import and exportAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi79 – 82Poly-Arg4
Compositional biasi316 – 321Poly-Gln6
Compositional biasi323 – 411Gly-richAdd BLAST89
Compositional biasi353 – 396Tyr-richAdd BLAST44

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IQWX Eukaryota
ENOG4111SPT LUCA
GeneTreeiENSGT00900000140835
HOGENOMiHOG000234441
HOVERGENiHBG002295
InParanoidiO14979
KOiK13044
OMAiGPGYTDY
OrthoDBiEOG091G1CPI
PhylomeDBiO14979
TreeFamiTF314808

Family and domain databases

CDDicd12758 RRM1_hnRPDL, 1 hit
Gene3Di3.30.70.330, 2 hits
InterProiView protein in InterPro
IPR034847 hnRPDL_RRM1
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 2 hits
SUPFAMiSSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14979-1) [UniParc]FASTAAdd to basket
Also known as: JKTBP1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA
60 70 80 90 100
RQGARRAQRH VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA
110 120 130 140 150
AAAATRTARQ HPPADSSVTM EDMNEYSNIE EFAEGSKINA SKNQQDDGKM
160 170 180 190 200
FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK TDPVTGRSRG FGFVLFKDAA
210 220 230 240 250
SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL SPDTSEEQIK
260 270 280 290 300
EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
310 320 330 340 350
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF
360 370 380 390 400
NNYYDQGYGN YNSAYGGDQN YSGYGGYDYT GYNYGNYGYG QGYADYSGQQ
410 420
STYGKASRGG GNHQNNYQPY
Length:420
Mass (Da):46,438
Last modified:August 1, 1999 - v3
Checksum:i00F631863859D0CA
GO
Isoform 2 (identifier: O14979-2) [UniParc]FASTAAdd to basket
Also known as: JKTBP2

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Show »
Length:301
Mass (Da):33,589
Checksum:i6BF76C3AEB682BAD
GO
Isoform 3 (identifier: O14979-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.
     341-397: Missing.

Show »
Length:244
Mass (Da):27,191
Checksum:i977B204371D65D76
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WUK2A0A087WUK2_HUMAN
Heterogeneous nuclear ribonucleopro...
HNRNPDL HNRPDL, hCG_22986
363Annotation score:
A0A087WU03A0A087WU03_HUMAN
Heterogeneous nuclear ribonucleopro...
HNRNPDL
57Annotation score:

Sequence cautioni

The sequence BAA22860 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072567378D → H in LGMD1G. 1 PublicationCorresponds to variant dbSNP:rs587777669EnsemblClinVar.1
Natural variantiVAR_072568378D → N in LGMD1G. 1 PublicationCorresponds to variant dbSNP:rs587777669EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0254101 – 119Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST119
Alternative sequenceiVSP_025411341 – 397Missing in isoform 3. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB017019 mRNA Translation: BAA75241.1
D89092 mRNA Translation: BAA24361.1
AB066484 mRNA Translation: BAB62188.1
CR407623 mRNA Translation: CAG28551.1
AC124016 Genomic DNA Translation: AAY40914.1
AB017018 Genomic DNA Translation: BAA75239.1
AB017018 Genomic DNA Translation: BAA75240.1
BC007392 mRNA Translation: AAH07392.2
BC011714 mRNA Translation: AAH11714.1
BC071944 mRNA Translation: AAH71944.1
AY453824 mRNA Translation: AAR17782.1
D89678 mRNA Translation: BAA22860.1 Different initiation.
CCDSiCCDS3593.1 [O14979-1]
PIRiJW0079
RefSeqiNP_001193929.1, NM_001207000.1
NP_112740.1, NM_031372.3 [O14979-1]
UniGeneiHs.527105
Hs.707013

Genome annotation databases

EnsembliENST00000295470; ENSP00000295470; ENSG00000152795 [O14979-1]
ENST00000349655; ENSP00000338552; ENSG00000152795 [O14979-2]
ENST00000502762; ENSP00000422040; ENSG00000152795 [O14979-1]
ENST00000507721; ENSP00000480156; ENSG00000152795 [O14979-2]
ENST00000602300; ENSP00000473677; ENSG00000152795 [O14979-2]
ENST00000621267; ENSP00000483254; ENSG00000152795 [O14979-1]
ENST00000630114; ENSP00000486452; ENSG00000152795 [O14979-2]
ENST00000630827; ENSP00000485954; ENSG00000152795 [O14979-2]
GeneIDi9987
KEGGihsa:9987
UCSCiuc003hmr.4 human [O14979-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB017019 mRNA Translation: BAA75241.1
D89092 mRNA Translation: BAA24361.1
AB066484 mRNA Translation: BAB62188.1
CR407623 mRNA Translation: CAG28551.1
AC124016 Genomic DNA Translation: AAY40914.1
AB017018 Genomic DNA Translation: BAA75239.1
AB017018 Genomic DNA Translation: BAA75240.1
BC007392 mRNA Translation: AAH07392.2
BC011714 mRNA Translation: AAH11714.1
BC071944 mRNA Translation: AAH71944.1
AY453824 mRNA Translation: AAR17782.1
D89678 mRNA Translation: BAA22860.1 Different initiation.
CCDSiCCDS3593.1 [O14979-1]
PIRiJW0079
RefSeqiNP_001193929.1, NM_001207000.1
NP_112740.1, NM_031372.3 [O14979-1]
UniGeneiHs.527105
Hs.707013

3D structure databases

ProteinModelPortaliO14979
SMRiO14979
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115308, 127 interactors
CORUMiO14979
IntActiO14979, 48 interactors
MINTiO14979
STRINGi9606.ENSP00000295470

PTM databases

iPTMnetiO14979
PhosphoSitePlusiO14979
SwissPalmiO14979

Polymorphism and mutation databases

BioMutaiHNRNPDL

Proteomic databases

EPDiO14979
MaxQBiO14979
PaxDbiO14979
PeptideAtlasiO14979
PRIDEiO14979
ProteomicsDBi48353
48354 [O14979-2]
48355 [O14979-3]

Protocols and materials databases

DNASUi9987
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295470; ENSP00000295470; ENSG00000152795 [O14979-1]
ENST00000349655; ENSP00000338552; ENSG00000152795 [O14979-2]
ENST00000502762; ENSP00000422040; ENSG00000152795 [O14979-1]
ENST00000507721; ENSP00000480156; ENSG00000152795 [O14979-2]
ENST00000602300; ENSP00000473677; ENSG00000152795 [O14979-2]
ENST00000621267; ENSP00000483254; ENSG00000152795 [O14979-1]
ENST00000630114; ENSP00000486452; ENSG00000152795 [O14979-2]
ENST00000630827; ENSP00000485954; ENSG00000152795 [O14979-2]
GeneIDi9987
KEGGihsa:9987
UCSCiuc003hmr.4 human [O14979-1]

Organism-specific databases

CTDi9987
DisGeNETi9987
EuPathDBiHostDB:ENSG00000152795.17
GeneCardsiHNRNPDL
HGNCiHGNC:5037 HNRNPDL
HPAiHPA056820
HPA063147
MalaCardsiHNRNPDL
MIMi607137 gene
609115 phenotype
neXtProtiNX_O14979
OpenTargetsiENSG00000152795
Orphaneti55596 Autosomal dominant limb-girdle muscular dystrophy type 1G
PharmGKBiPA29362
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQWX Eukaryota
ENOG4111SPT LUCA
GeneTreeiENSGT00900000140835
HOGENOMiHOG000234441
HOVERGENiHBG002295
InParanoidiO14979
KOiK13044
OMAiGPGYTDY
OrthoDBiEOG091G1CPI
PhylomeDBiO14979
TreeFamiTF314808

Enzyme and pathway databases

ReactomeiR-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Miscellaneous databases

ChiTaRSiHNRNPDL human
GeneWikiiHNRPDL
GenomeRNAii9987
PROiPR:O14979
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152795 Expressed in 233 organ(s), highest expression level in substantia nigra
CleanExiHS_HNRPDL
ExpressionAtlasiO14979 baseline and differential
GenevisibleiO14979 HS

Family and domain databases

CDDicd12758 RRM1_hnRPDL, 1 hit
Gene3Di3.30.70.330, 2 hits
InterProiView protein in InterPro
IPR034847 hnRPDL_RRM1
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 2 hits
SUPFAMiSSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiHNRDL_HUMAN
AccessioniPrimary (citable) accession number: O14979
Secondary accession number(s): Q6SPF2
, Q7KZ74, Q7KZ75, Q96IM0, Q96S43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: August 1, 1999
Last modified: November 7, 2018
This is version 170 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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