• Gene id: 9987

Gene Summary

• Gene Symbol: HNRNPDL   Gene   UCSC   Ensembl
• Aliases: HNRNP, HNRPDL, JKTBP, JKTBP2, LGMD1G, LGMDD3, laAUF1
• Gene name: heterogeneous nuclear ribonucleoprotein D like
• Alternate names: heterogeneous nuclear ribonucleoprotein D-like, A+U-rich element RNA binding factor, AU-rich element RNA-binding factor, JKT41-binding protein, hnRNP D-like, hnRNP DL, limb girdle muscular dystrophy 1G (autosomal dominant), protein laAUF1,
• Gene location: 4q21.22 (82430224: 82422563)     Exons: 6     NC_000004.12
• Gene summary(Entrez): 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 th
• OMIM: 607137

Protein Summary

• Protein general information: O14979  
  • Name: Heterogeneous nuclear ribonucleoprotein D like (hnRNP D like) (hnRNP DL) (AU rich element RNA binding factor) (JKT41 binding protein) (Protein laAUF1)
  • Length: 420  
  • Mass: 46438
  • Tissue specificity: 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 carcin
• Sequence:

  MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAI
  KGGRRRRPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKM
  FIGGLSWDTSKKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKA
  LKGKEPPKKVFVGGLSPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTDEEPVKKLLESRYHQIGS
  GKCEIKVAQPKEVYRQQQQQQKGGRGAAAGGRGGTRGRGRGQGQNWNQGFNNYYDQGYGNYNSAYGGDQNYSGYG
  GYDYTGYNYGNYGYGQGYADYSGQQSTYGKASRGGGNHQNNYQPY

• Structural information:
  • Protein Domains: (148..23-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (233..31-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034847  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12758
  • STRING: ENSP00000483254
• Other Databases: GeneCards:  HNRNPDL  Malacards:  HNRNPDL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0051252	regulation of RNA metabolic process	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0034046	poly(G) binding	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:1990837	sequence-specific double-stranded DNA binding	IBA	molecular function
GO:0008143	poly(A) binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Limb-girdle muscular dystrophy	KEGG:H00593
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)