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Protein

Neuroblastoma breakpoint family member 1

Gene

NBPF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179571-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroblastoma breakpoint family member 1
Gene namesi
Name:NBPF1
Synonyms:KIAA1693
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:26088. NBPF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi55672.
PharmGKBiPA128395786.

Polymorphism and mutation databases

DMDMi121942439.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002880371 – 1214Neuroblastoma breakpoint family member 1Add BLAST1214

Proteomic databases

EPDiQ3BBV0.
MaxQBiQ3BBV0.
PeptideAtlasiQ3BBV0.
PRIDEiQ3BBV0.

PTM databases

iPTMnetiQ3BBV0.
PhosphoSitePlusiQ3BBV0.

Expressioni

Tissue specificityi

Widely expressed. The only tissue which shows a weak expression is kidney.1 Publication

Gene expression databases

CleanExiHS_NBPF1.

Organism-specific databases

HPAiHPA038748.
HPA042595.
HPA043105.
HPA043692.
HPA044023.
HPA046888.
HPA046971.
HPA058050.

Interactioni

Protein-protein interaction databases

BioGridi120804. 2 interactors.
IntActiQ3BBV0. 3 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ3BBV0.
SMRiQ3BBV0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini165 – 259NBPF 1PROSITE-ProRule annotationAdd BLAST95
Domaini436 – 530NBPF 2PROSITE-ProRule annotationAdd BLAST95
Domaini707 – 799NBPF 3PROSITE-ProRule annotationAdd BLAST93
Domaini800 – 888NBPF 4PROSITE-ProRule annotationAdd BLAST89
Domaini891 – 946NBPF 5PROSITE-ProRule annotationAdd BLAST56
Domaini947 – 1038NBPF 6PROSITE-ProRule annotationAdd BLAST92
Domaini1041 – 1114NBPF 7PROSITE-ProRule annotationAdd BLAST74
Domaini1116 – 1214NBPF 8PROSITE-ProRule annotationAdd BLAST99

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili70 – 128Sequence analysisAdd BLAST59
Coiled coili292 – 399Sequence analysisAdd BLAST108
Coiled coili610 – 670Sequence analysisAdd BLAST61

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi806 – 810Poly-Glu5
Compositional biasi821 – 826Poly-Glu6
Compositional biasi1028 – 1031Poly-Glu4
Compositional biasi1116 – 1121Poly-Arg6

Sequence similaritiesi

Belongs to the NBPF family.Curated
Contains 8 NBPF domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

HOVERGENiHBG058300.
InParanoidiQ3BBV0.
PhylomeDBiQ3BBV0.

Family and domain databases

InterProiIPR010630. NBPF_dom.
[Graphical view]
PfamiPF06758. DUF1220. 8 hits.
[Graphical view]
SMARTiSM01148. DUF1220. 8 hits.
[Graphical view]
PROSITEiPS51316. NBPF. 8 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q3BBV0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVVSAGPWSS EKAETNILEI NEKLRPQLAE NKQQFRNLKE KCFVTQLAGF
60 70 80 90 100
LANRQKKYKY EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH
110 120 130 140 150
SQERELTQLR EKLREGRDAS RSLNQHLQAL LTPDEPDKSQ GQDLQEQLAE
160 170 180 190 200
GCRLAQHLVQ KLSPENDEDE DEDVQVEEAE KVLESSAPRE VQKAEESKVP
210 220 230 240 250
EDSLEECAIT CSNSHGPCDS NQPHKNINIT FEEDKVNSTL VVDRESSHDE
260 270 280 290 300
CQDAVNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE MNEKLRPQLA
310 320 330 340 350
EKKQQFRNLK EKCFVTQLAG FLANQQNKYK YEECEDLIKS MLRNERQFKE
360 370 380 390 400
EKLAEQLKQA EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNQHLQA
410 420 430 440 450
LLTPDEPDKS QGQDLQEQLA EGCRLAQHLV QKLSPENDED EDEDVQVEEA
460 470 480 490 500
EKVLESSAPR EVQKAEESKV PEDSLEECAI TCSNSHGPCD SNQPHKNINI
510 520 530 540 550
TFEEDKVNSA LVVDRESSHD ECQDAVNILP VPGPTSSATN VSMVVSAGPL
560 570 580 590 600
SSEKAEMNIL EMNEKLRPQL AEKKQQFRNL KEKCFVTQLA CFLANQQNKY
610 620 630 640 650
KYEECKDLIK SVLRNERQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ
660 670 680 690 700
LREKLREGRD ASRSLNQHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQQL
710 720 730 740 750
FQKLSPENDN DHDEDVQVEV AEKVQKSSAP REMQKAEEKE VPEDSLEECA
760 770 780 790 800
ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS TLIGSSSHVE WEDAVHIIPE
810 820 830 840 850
NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS IPPEMLASYQ
860 870 880 890 900
SYSGTFHSLE EQQVCMAVDI GGHRWDQVKK EDQEATGPRL SRELLDEKGP
910 920 930 940 950
EVLQDSLDRC YSTPSGYLEL TDSCQPYRSA FYILEQQRVG WALDMDEIEK
960 970 980 990 1000
YQEVEEDQDP SCPRLSRELL DEKEPEVLQD SLDRCYSTPS GYLELPDLGQ
1010 1020 1030 1040 1050
PYRSAVYSLE EQYLGLALDV DRIKKDQEEE EDQGPPCPRL SRELLEAVEP
1060 1070 1080 1090 1100
EVLQDSLDRC YSTPSSCLEQ PDSCLPYGSS FYALEEKHVG FSLDVGEIEK
1110 1120 1130 1140 1150
KGKGKKRRGR RSTKKRRRRG RKEGEEDQNP PCPRLSGMLM EVEEPEVLQD
1160 1170 1180 1190 1200
SLDRCYSTPS MYFELPDSFQ HYRSVFYSFE EQHISFALDV DNRFLTLMGT
1210
SLHLVFQMGV IFPQ
Length:1,214
Mass (Da):139,343
Last modified:November 22, 2005 - v1
Checksum:i1A32FCC0B5551A79
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti320G → C in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti335E → K in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti406E → K in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti428 – 430HLV → QLF in BAB21784 (PubMed:11214970).Curated3
Sequence conflicti487G → S in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti562M → I in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti567R → H in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti602Y → N in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti699 – 701QLF → HLV in BAB21784 (PubMed:11214970).Curated3
Sequence conflicti699 – 701QLF → HLV in AAH34418 (PubMed:15489334).Curated3
Sequence conflicti1138M → V in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1138M → V in AAH34418 (PubMed:15489334).Curated1
Sequence conflicti1162Y → F in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1162Y → F in AAH34418 (PubMed:15489334).Curated1
Sequence conflicti1200T → R in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1200T → R in AAH34418 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03236420I → M.Corresponds to variant rs9730080dbSNPEnsembl.1
Natural variantiVAR_03236531N → K.Corresponds to variant rs9730077dbSNPEnsembl.1
Natural variantiVAR_032366510A → T.1 PublicationCorresponds to variant rs681623dbSNPEnsembl.1
Natural variantiVAR_032367591C → G.Corresponds to variant rs3738661dbSNPEnsembl.1
Natural variantiVAR_032368612V → M.2 PublicationsCorresponds to variant rs672812dbSNPEnsembl.1
Natural variantiVAR_032369663R → C.2 PublicationsCorresponds to variant rs28453011dbSNPEnsembl.1
Natural variantiVAR_032370712H → D.2 PublicationsCorresponds to variant rs3901680dbSNPEnsembl.1
Natural variantiVAR_032371726K → E.Corresponds to variant rs3901679dbSNPEnsembl.1
Natural variantiVAR_032372734Q → P.2 PublicationsCorresponds to variant rs9727080dbSNPEnsembl.1
Natural variantiVAR_032373850Q → K.1 PublicationCorresponds to variant rs11581926dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY894575 mRNA. Translation: AAX85114.1.
AB051480 mRNA. Translation: BAB21784.1.
BC034418 mRNA. Translation: AAH34418.1.
RefSeqiNP_060410.2. NM_017940.4.
UniGeneiHs.467587.
Hs.523572.
Hs.714127.
Hs.721588.
Hs.732154.
Hs.745004.

Genome annotation databases

GeneIDi55672.
KEGGihsa:55672.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY894575 mRNA. Translation: AAX85114.1.
AB051480 mRNA. Translation: BAB21784.1.
BC034418 mRNA. Translation: AAH34418.1.
RefSeqiNP_060410.2. NM_017940.4.
UniGeneiHs.467587.
Hs.523572.
Hs.714127.
Hs.721588.
Hs.732154.
Hs.745004.

3D structure databases

ProteinModelPortaliQ3BBV0.
SMRiQ3BBV0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120804. 2 interactors.
IntActiQ3BBV0. 3 interactors.

PTM databases

iPTMnetiQ3BBV0.
PhosphoSitePlusiQ3BBV0.

Polymorphism and mutation databases

DMDMi121942439.

Proteomic databases

EPDiQ3BBV0.
MaxQBiQ3BBV0.
PeptideAtlasiQ3BBV0.
PRIDEiQ3BBV0.

Protocols and materials databases

DNASUi55672.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi55672.
KEGGihsa:55672.

Organism-specific databases

CTDi55672.
DisGeNETi55672.
GeneCardsiNBPF1.
H-InvDBHIX0000173.
HGNCiHGNC:26088. NBPF1.
HPAiHPA038748.
HPA042595.
HPA043105.
HPA043692.
HPA044023.
HPA046888.
HPA046971.
HPA058050.
MIMi610501. gene.
neXtProtiNX_Q3BBV0.
PharmGKBiPA128395786.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG058300.
InParanoidiQ3BBV0.
PhylomeDBiQ3BBV0.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179571-MONOMER.

Miscellaneous databases

ChiTaRSiNBPF1. human.
GenomeRNAii55672.
PROiQ3BBV0.
SOURCEiSearch...

Gene expression databases

CleanExiHS_NBPF1.

Family and domain databases

InterProiIPR010630. NBPF_dom.
[Graphical view]
PfamiPF06758. DUF1220. 8 hits.
[Graphical view]
SMARTiSM01148. DUF1220. 8 hits.
[Graphical view]
PROSITEiPS51316. NBPF. 8 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNBPF1_HUMAN
AccessioniPrimary (citable) accession number: Q3BBV0
Secondary accession number(s): Q8N4E8, Q9C0H0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 22, 2005
Last modified: November 30, 2016
This is version 79 of the entry and version 1 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

Miscellaneous

Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.