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Protein

Neuroblastoma suppressor of tumorigenicity 1

Gene

NBL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

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

HGNCiHGNC:7650. NBL1.

Subcellular locationi

GO - Cellular componenti

  • extracellular space Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

PharmGKBiPA31456.

Polymorphism and mutation databases

DMDMi729293.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 16161 PublicationAdd
BLAST
Chaini17 – 181165Neuroblastoma suppressor of tumorigenicity 1PRO_0000006722Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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

MaxQBiP41271.
PaxDbiP41271.
PeptideAtlasiP41271.
PRIDEiP41271.

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

WithEntry#Exp.IntActNotes
NCS1P621663EBI-10208650,EBI-746987
UBQLN1Q9UMX03EBI-10208650,EBI-741480
UBQLN1Q9UMX0-23EBI-10208650,EBI-10173939
ZMIZ2Q8NF64-23EBI-10208650,EBI-10182121

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi110761. 4 interactions.
IntActiP41271. 3 interactions.
STRINGi9606.ENSP00000289749.

Structurei

Secondary structure

1
181
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi34 – 4411Combined sources
Beta strandi47 – 504Combined sources
Beta strandi52 – 6211Combined sources
Beta strandi85 – 9814Combined sources
Beta strandi103 – 1053Combined sources
Beta strandi107 – 12014Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4X1JX-ray2.50A/B17-132[»]
4YU8X-ray1.80A2-140[»]
ProteinModelPortaliP41271.
SMRiP41271. Positions 30-130.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 12490CTCKAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi142 – 17231Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the DAN family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IWXT. Eukaryota.
ENOG4111SRK. LUCA.
GeneTreeiENSGT00730000111304.
HOGENOMiHOG000113738.
HOVERGENiHBG031736.
InParanoidiP41271.
KOiK19558.
OMAiQGEDAQG.
OrthoDBiEOG091G0V3W.
TreeFamiTF106445.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR006207. Cys_knot_C.
IPR029034. Cystine-knot_cytokine.
IPR004133. DAN.
IPR016728. Neuroblast_suppress_tumour_1.
[Graphical view]
PfamiPF03045. DAN. 1 hit.
[Graphical view]
PIRSFiPIRSF018557. DAN_sub. 1 hit.
SMARTiSM00041. CT. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MPGNLMSQTSRAVSIWKFPA KLGKTHGHRALEATGM in isoform 2. 1 PublicationVSP_036438

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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4X1JX-ray2.50A/B17-132[»]
4YU8X-ray1.80A2-140[»]
ProteinModelPortaliP41271.
SMRiP41271. Positions 30-130.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110761. 4 interactions.
IntActiP41271. 3 interactions.
STRINGi9606.ENSP00000289749.

Polymorphism and mutation databases

DMDMi729293.

Proteomic databases

MaxQBiP41271.
PaxDbiP41271.
PeptideAtlasiP41271.
PRIDEiP41271.

Protocols and materials databases

DNASUi4681.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi100532736.
4681.
GeneCardsiNBL1.
HGNCiHGNC:7650. NBL1.
HPAiCAB026132.
HPA007394.
MIMi600613. gene.
neXtProtiNX_P41271.
PharmGKBiPA31456.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWXT. Eukaryota.
ENOG4111SRK. LUCA.
GeneTreeiENSGT00730000111304.
HOGENOMiHOG000113738.
HOVERGENiHBG031736.
InParanoidiP41271.
KOiK19558.
OMAiQGEDAQG.
OrthoDBiEOG091G0V3W.
TreeFamiTF106445.

Miscellaneous databases

PROiP41271.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158747.
CleanExiHS_NBL1.
ExpressionAtlasiP41271. baseline and differential.
GenevisibleiP41271. HS.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR006207. Cys_knot_C.
IPR029034. Cystine-knot_cytokine.
IPR004133. DAN.
IPR016728. Neuroblast_suppress_tumour_1.
[Graphical view]
PfamiPF03045. DAN. 1 hit.
[Graphical view]
PIRSFiPIRSF018557. DAN_sub. 1 hit.
SMARTiSM00041. CT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNBL1_HUMAN
AccessioniPrimary (citable) accession number: P41271
Secondary accession number(s): A3KFI7
, Q5TGZ2, Q5U0N4, Q96L68
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: April 16, 2014
Last modified: September 7, 2016
This is version 143 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.