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Protein

Putative NOL1/NOP2/Sun domain family member 5B

Gene

NSUN5P1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Protein uncertaini

Functioni

Caution

Could be the product of a pseudogene.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei93NucleophilePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMethyltransferase, RNA-binding, Transferase
LigandS-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Putative NOL1/NOP2/Sun domain family member 5B (EC:2.1.1.-)
Alternative name(s):
Williams-Beuren syndrome chromosomal region 20B protein
Gene namesi
Name:NSUN5P1
Synonyms:NSUN5B, WBSCR20B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:19146 NSUN5P1
neXtProtiNX_Q3KNT7

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

Pathology & Biotechi

Involvement in diseasei

NSUN5P1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

PharmGKBiPA143485559

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002616711 – 163Putative NOL1/NOP2/Sun domain family member 5BAdd BLAST163

Proteomic databases

MaxQBiQ3KNT7
PeptideAtlasiQ3KNT7
PRIDEiQ3KNT7
ProteomicsDBi61699
61700 [Q3KNT7-2]
61701 [Q3KNT7-3]

PTM databases

iPTMnetiQ3KNT7
PhosphoSitePlusiQ3KNT7

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

CleanExiHS_NSUN5B

Organism-specific databases

HPAiHPA045590
HPA046867

Structurei

3D structure databases

ProteinModelPortaliQ3KNT7
SMRiQ3KNT7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.PROSITE-ProRule annotation

Phylogenomic databases

HOVERGENiHBG082061
InParanoidiQ3KNT7
PhylomeDBiQ3KNT7

Family and domain databases

InterProiView protein in InterPro
IPR001678 MeTrfase_RsmB/NOP2
IPR023267 RCMT
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF01189 Methyltr_RsmB-F, 1 hit
PRINTSiPR02008 RCMTFAMILY
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51686 SAM_MT_RSMB_NOP, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q3KNT7-1) [UniParc]FASTAAdd to basket

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
MATLLAWVGV SCCELAEEDF LAVSPLDPRY REVHYVLLDP SCSGSGMPSR
60 70 80 90 100
QLEDPGAGTP SPVRLHALAG FQQRALCHAL TFPSLQRLVY SMCSLCQEEN
110 120 130 140 150
EDMVPDALQQ NPGAFRLAPA LPARPHRGLS TFPGAEHCLR ASPKTTLSGG
160
FFVAVIERVE MPT
Length:163
Mass (Da):17,679
Last modified:November 8, 2005 - v1
Checksum:i7F3972F25F22A003
GO
Isoform 2 (identifier: Q3KNT7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Show »
Length:117
Mass (Da):12,697
Checksum:i2DF53EA37697EC3D
GO
Isoform 3 (identifier: Q3KNT7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
     163-163: T → TSASQAKASAPERTPSPAPKRKKRQQRAAAGACTPPCT

Show »
Length:154
Mass (Da):16,485
Checksum:i080559D99E8254F0
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0217571 – 46Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST46
Alternative sequenceiVSP_021758163T → TSASQAKASAPERTPSPAPK RKKRQQRAAAGACTPPCT in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF416610 mRNA Translation: AAM62318.1
AK126486 mRNA Translation: BAG54336.1
AK128374 mRNA Translation: BAG54668.1
BC093978 mRNA Translation: AAH93978.1
BC107112 mRNA Translation: AAI07113.1
UniGeneiHs.436034

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNSN5B_HUMAN
AccessioniPrimary (citable) accession number: Q3KNT7
Secondary accession number(s): B3KX24, Q52LC6, Q8N728
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 8, 2005
Last modified: June 20, 2018
This is version 84 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

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