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Protein

Neuroblastoma suppressor of tumorigenicity 1

Gene

NBL1

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

Functioni

Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.

GO - Molecular functioni

  • BMP binding Source: BHF-UCL
  • morphogen activity Source: BHF-UCL
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroblastoma suppressor of tumorigenicity 1
Alternative name(s):
DAN domain family member 1
Protein N03
Zinc finger protein DAN
Gene namesi
Name:NBL1
Synonyms:DAN, DAND1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000158747.13
HGNCiHGNC:7650 NBL1
MIMi600613 gene
neXtProtiNX_P41271

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

Secreted

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi100532736
4681
OpenTargetsiENSG00000158747
PharmGKBiPA31456

Polymorphism and mutation databases

DMDMi729293

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 161 PublicationAdd BLAST16
ChainiPRO_000000672217 – 181Neuroblastoma suppressor of tumorigenicity 1Add BLAST165

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi35 ↔ 85By similarity
Disulfide bondi49 ↔ 99By similarity
Disulfide bondi59 ↔ 118By similarity
Disulfide bondi63 ↔ 120By similarity
Disulfide bondi82 ↔ 123Sequence analysis

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP41271
PeptideAtlasiP41271
PRIDEiP41271

PTM databases

iPTMnetiP41271

Expressioni

Tissue specificityi

Most abundant in normal lung and meningioma.

Gene expression databases

BgeeiENSG00000158747
CleanExiHS_NBL1
ExpressionAtlasiP41271 baseline and differential
GenevisibleiP41271 HS

Organism-specific databases

HPAiCAB026132
HPA007394

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • BMP binding Source: BHF-UCL
  • morphogen activity Source: BHF-UCL
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi110761, 4 interactors
1529413, 1 interactor
IntActiP41271, 12 interactors
STRINGi9606.ENSP00000289749

Structurei

Secondary structure

1181
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi34 – 44Combined sources11
Beta strandi47 – 50Combined sources4
Beta strandi52 – 62Combined sources11
Beta strandi85 – 98Combined sources14
Beta strandi103 – 105Combined sources3
Beta strandi107 – 120Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4X1JX-ray2.50A/B17-132[»]
4YU8X-ray1.80A2-140[»]
ProteinModelPortaliP41271
SMRiP41271
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 124CTCKAdd BLAST90

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi142 – 172Pro-richAdd BLAST31

Sequence similaritiesi

Belongs to the DAN family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IWXT Eukaryota
ENOG4111SRK LUCA
GeneTreeiENSGT00510000046909
HOGENOMiHOG000113738
HOVERGENiHBG031736
InParanoidiP41271
KOiK19558
OMAiCESKSIQ
OrthoDBiEOG091G0V3W
TreeFamiTF106445

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR006207 Cys_knot_C
IPR029034 Cystine-knot_cytokine
IPR004133 DAN
IPR016728 Neuroblast_suppress_tumour_1
PfamiView protein in Pfam
PF03045 DAN, 1 hit
PIRSFiPIRSF018557 DAN_sub, 1 hit
SMARTiView protein in SMART
SM00041 CT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P41271-1) [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
MMLRVLVGAV LPAMLLAAPP PINKLALFPD KSAWCEAKNI TQIVGHSGCE
60 70 80 90 100
AKSIQNRACL GQCFSYSVPN TFPQSTESLV HCDSCMPAQS MWEIVTLECP
110 120 130 140 150
GHEEVPRVDK LVEKILHCSC QACGKEPSHE GLSVYVQGED GPGSQPGTHP
160 170 180
HPHPHPHPGG QTPEPEDPPG APHTEEEGAE D
Length:181
Mass (Da):19,408
Last modified:April 16, 2014 - v2
Checksum:iAE9E3264EF38DAD7
GO
Isoform 2 (identifier: P41271-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPGNLMSQTSRAVSIWKFPAKLGKTHGHRALEATGM

Show »
Length:216
Mass (Da):23,169
Checksum:i61EC9DED251B33A7
GO

Sequence cautioni

The sequence AAH12037 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA05671 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92265 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG36074 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0364381M → MPGNLMSQTSRAVSIWKFPA KLGKTHGHRALEATGM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D28124 mRNA Translation: BAA05671.1 Different initiation.
D89013 Genomic DNA Translation: BAA92265.1 Different initiation.
AY049783 mRNA Translation: AAL15440.1
AK289456 mRNA Translation: BAF82145.1
AK292101 mRNA Translation: BAF84790.1
AK300872 mRNA Translation: BAG62517.1
AK313265 mRNA Translation: BAG36074.1 Different initiation.
AL031727 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94894.1
CH471134 Genomic DNA Translation: EAW94895.1
BC012037 mRNA Translation: AAH12037.1 Different initiation.
BT019423 mRNA Translation: AAV38230.1
CCDSiCCDS196.2 [P41271-1]
CCDS41278.1 [P41271-2]
RefSeqiNP_001191013.1, NM_001204084.2 [P41271-1]
NP_001191014.1, NM_001204085.1 [P41271-1]
NP_001191017.1, NM_001204088.1
NP_001191018.1, NM_001204089.1 [P41271-1]
NP_001265093.1, NM_001278164.1 [P41271-1]
NP_001265094.1, NM_001278165.1 [P41271-1]
NP_001265095.1, NM_001278166.1 [P41271-1]
NP_005371.2, NM_005380.7 [P41271-1]
NP_877421.2, NM_182744.3 [P41271-2]
UniGeneiHs.466662
Hs.654502

Genome annotation databases

EnsembliENST00000289749; ENSP00000289749; ENSG00000158747 [P41271-2]
ENST00000375136; ENSP00000364278; ENSG00000158747 [P41271-1]
ENST00000548815; ENSP00000449007; ENSG00000158747 [P41271-1]
ENST00000618761; ENSP00000483061; ENSG00000158747 [P41271-1]
ENST00000621723; ENSP00000478885; ENSG00000158747 [P41271-1]
ENST00000622566; ENSP00000480391; ENSG00000158747 [P41271-1]
GeneIDi100532736
4681
KEGGihsa:100532736
hsa:4681
UCSCiuc001bcj.3 human [P41271-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNBL1_HUMAN
AccessioniPrimary (citable) accession number: P41271
Secondary accession number(s): A3KFI7
, Q5TGZ2, Q5U0N4, Q96L68
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: April 16, 2014
Last modified: March 28, 2018
This is version 154 of the entry and version 2 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

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