Details for: UFSP2
Associated with
Other Information
Genular Protein ID: 504247725
Symbol: UFSP2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 25219498
Title: Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development.
PubMed ID: 25219498
PubMed ID: 25732826
Title: An organellar nalpha-acetyltransferase, naa60, acetylates cytosolic N termini of transmembrane proteins and maintains Golgi integrity.
PubMed ID: 25732826
PubMed ID: 26428751
Title: Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
PubMed ID: 26428751
DOI: 10.7196/samjnew.7917
PubMed ID: 32160526
Title: A genome-wide ER-phagy screen highlights key roles of mitochondrial metabolism and ER-Resident UFMylation.
PubMed ID: 32160526
PubMed ID: 33473208
Title: A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
PubMed ID: 33473208
PubMed ID: 28892125
Title: Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
PubMed ID: 28892125
DOI: 10.1111/cge.13134
PubMed ID: 32755715
Title: UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
PubMed ID: 32755715
PubMed ID: 33514497
Title: Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021].
PubMed ID: 33514497
Sequence Information:
- Length: 469
- Mass: 53261
- Checksum: FC9AF622053F8BBA
- Sequence:
MVISESMDIL FRIRGGLDLA FQLATPNEIF LKKALKHVLS DLSTKLSSNA LVFRICHSSV YIWPSSDINT IPGELTDASA CKNILRFIQF EPEEDIKRKF MRKKDKKLSD MHQIVNIDLM LEMSTSLAAV TPIIERESGG HHYVNMTLPV DAVISVAPEE TWGKVRKLLV DAIHNQLTDM EKCILKYMKG TSIVVPEPLH FLLPGKKNLV TISYPSGIPD GQLQAYRKEL HDLFNLPHDR PYFKRSNAYH FPDEPYKDGY IRNPHTYLNP PNMETGMIYV VQGIYGYHHY MQDRIDDNGW GCAYRSLQTI CSWFKHQGYT ERSIPTHREI QQALVDAGDK PATFVGSRQW IGSIEVQLVL NQLIGITSKI LFVSQGSEIA SQGRELANHF QSEGTPVMIG GGVLAHTILG VAWNEITGQI KFLILDPHYT GAEDLQVILE KGWCGWKGPD FWNKDAYYNL CLPQRPNMI
Genular Protein ID: 3067792315
Symbol: B3KRI4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
Sequence Information:
- Length: 369
- Mass: 41875
- Checksum: 51CF2130123F0519
- Sequence:
MRKKDKKLSD MHQIVNIDLM LEMSTSLAAV TPIIERESGG HHYVNMTLPV DAVISVAPEE TWGKVRKLLV DAIHNQLTDM EKCILKYMKG TSIVVPEPLH FLLPGKKNLV TISYPSGIPD GQLQAYRKEL HDLFNLPHDR PYFKRSNAYH FPDEPYKDGY IRNPHTYLNP PNMETGMIYV VQGIYGYHHY MQDRIDDNGW GCAYRSLQTI CSWFKHQGYT ERSIPTHREI QQALVDAGDK PATFVGSRQW IGSIEVQLVL NQLIGITSKI LFVSQGSEIA SQGRELANHF QSEGTPVMIG GGVLAHTILG VAWNEITGQI KFLILDPHYT GAEDLQVILE KGWCGWKGPD FWNKDAYCNL CLPQRPNMI
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.