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Protein

Protein kinase C-binding protein NELL1

Gene

NELL1

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

Functioni

Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.1 Publication

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • negative regulation of cellular protein catabolic process Source: UniProtKB
  • negative regulation of osteoblast proliferation Source: UniProtKB
  • nervous system development Source: ProtInc
  • positive regulation of bone mineralization Source: UniProtKB
  • positive regulation of osteoblast differentiation Source: UniProtKB
  • regulation of gene expression Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Differentiation

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165973-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kinase C-binding protein NELL1
Alternative name(s):
NEL-like protein 1
Nel-related protein 1
Gene namesi
Name:NELL1
Synonyms:NRP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7750. NELL1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular region Source: UniProtKB-SubCell
  • nuclear envelope Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi4745.
OpenTargetsiENSG00000165973.
PharmGKBiPA31552.

Polymorphism and mutation databases

BioMutaiNELL1.
DMDMi311033486.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000000766422 – 810Protein kinase C-binding protein NELL1Add BLAST789

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...)Sequence analysis1
Glycosylationi53N-linked (GlcNAc...)Sequence analysis1
Glycosylationi83N-linked (GlcNAc...)Sequence analysis1
Glycosylationi224N-linked (GlcNAc...)Sequence analysis1
Glycosylationi294N-linked (GlcNAc...)Sequence analysis1
Glycosylationi372N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi395 ↔ 407PROSITE-ProRule annotation
Disulfide bondi401 ↔ 416PROSITE-ProRule annotation
Disulfide bondi418 ↔ 432PROSITE-ProRule annotation
Disulfide bondi438 ↔ 451PROSITE-ProRule annotation
Disulfide bondi445 ↔ 460PROSITE-ProRule annotation
Disulfide bondi462 ↔ 474PROSITE-ProRule annotation
Disulfide bondi480 ↔ 493PROSITE-ProRule annotation
Disulfide bondi487 ↔ 502PROSITE-ProRule annotation
Disulfide bondi504 ↔ 515PROSITE-ProRule annotation
Glycosylationi511N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi519 ↔ 529PROSITE-ProRule annotation
Disulfide bondi523 ↔ 535PROSITE-ProRule annotation
Disulfide bondi537 ↔ 546PROSITE-ProRule annotation
Disulfide bondi553 ↔ 566PROSITE-ProRule annotation
Disulfide bondi560 ↔ 575PROSITE-ProRule annotation
Glycosylationi562N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi577 ↔ 594PROSITE-ProRule annotation
Disulfide bondi600 ↔ 613PROSITE-ProRule annotation
Disulfide bondi607 ↔ 622PROSITE-ProRule annotation
Glycosylationi609N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi624 ↔ 630PROSITE-ProRule annotation
Glycosylationi708N-linked (GlcNAc...)Sequence analysis1
Glycosylationi732N-linked (GlcNAc...)Sequence analysis1
Glycosylationi758N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92832.
PeptideAtlasiQ92832.
PRIDEiQ92832.

PTM databases

iPTMnetiQ92832.
PhosphoSitePlusiQ92832.
SwissPalmiQ92832.

Expressioni

Gene expression databases

BgeeiENSG00000165973.
CleanExiHS_NELL1.
HS_NRP1.
ExpressionAtlasiQ92832. baseline and differential.
GenevisibleiQ92832. HS.

Organism-specific databases

HPAiHPA051535.

Interactioni

Subunit structurei

Homotrimer. Binds to PKC beta-1 (By similarity). Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ATRAIDQ6UW564EBI-947754,EBI-723802

Protein-protein interaction databases

BioGridi110820. 25 interactors.
IntActiQ92832. 17 interactors.
MINTiMINT-7034527.
STRINGi9606.ENSP00000349654.

Structurei

3D structure databases

ProteinModelPortaliQ92832.
SMRiQ92832.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 227Laminin G-likeAdd BLAST164
Domaini271 – 332VWFC 1PROSITE-ProRule annotationAdd BLAST62
Domaini434 – 475EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini476 – 516EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini517 – 547EGF-like 3PROSITE-ProRule annotationAdd BLAST31
Domaini549 – 587EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini596 – 631EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini692 – 750VWFC 2PROSITE-ProRule annotationAdd BLAST59

Sequence similaritiesi

Contains 5 EGF-like domains.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated
Contains 2 VWFC domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR7C. Eukaryota.
ENOG410XSZA. LUCA.
GeneTreeiENSGT00810000125439.
HOGENOMiHOG000217920.
HOVERGENiHBG004805.
InParanoidiQ92832.
PhylomeDBiQ92832.
TreeFamiTF323325.

Family and domain databases

Gene3Di2.60.120.200. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR024731. EGF_dom.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF12947. EGF_3. 1 hit.
PF07645. EGF_CA. 3 hits.
PF00093. VWC. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
SM00214. VWC. 4 hits.
SM00215. VWC_out. 2 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 3 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
[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: Q92832-1) [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
MPMDLILVVW FCVCTARTVV GFGMDPDLQM DIVTELDLVN TTLGVAQVSG
60 70 80 90 100
MHNASKAFLF QDIEREIHAA PHVSEKLIQL FRNKSEFTIL ATVQQKPSTS
110 120 130 140 150
GVILSIRELE HSYFELESSG LRDEIRYHYI HNGKPRTEAL PYRMADGQWH
160 170 180 190 200
KVALSVSASH LLLHVDCNRI YERVIDPPDT NLPPGINLWL GQRNQKHGLF
210 220 230 240 250
KGIIQDGKII FMPNGYITQC PNLNHTCPTC SDFLSLVQGI MDLQELLAKM
260 270 280 290 300
TAKLNYAETR LSQLENCHCE KTCQVSGLLY RDQDSWVDGD HCRNCTCKSG
310 320 330 340 350
AVECRRMSCP PLNCSPDSLP VHIAGQCCKV CRPKCIYGGK VLAEGQRILT
360 370 380 390 400
KSCRECRGGV LVKITEMCPP LNCSEKDHIL PENQCCRVCR GHNFCAEGPK
410 420 430 440 450
CGENSECKNW NTKATCECKS GYISVQGDSA YCEDIDECAA KMHYCHANTV
460 470 480 490 500
CVNLPGLYRC DCVPGYIRVD DFSCTEHDEC GSGQHNCDEN AICTNTVQGH
510 520 530 540 550
SCTCKPGYVG NGTICRAFCE EGCRYGGTCV APNKCVCPSG FTGSHCEKDI
560 570 580 590 600
DECSEGIIEC HNHSRCVNLP GWYHCECRSG FHDDGTYSLS GESCIDIDEC
610 620 630 640 650
ALRTHTCWND SACINLAGGF DCLCPSGPSC SGDCPHEGGL KHNGQVWTLK
660 670 680 690 700
EDRCSVCSCK DGKIFCRRTA CDCQNPSADL FCCPECDTRV TSQCLDQNGH
710 720 730 740 750
KLYRSGDNWT HSCQQCRCLE GEVDCWPLTC PNLSCEYTAI LEGECCPRCV
760 770 780 790 800
SDPCLADNIT YDIRKTCLDS YGVSRLSGSV WTMAGSPCTT CKCKNGRVCC
810
SVDFECLQNN
Length:810
Mass (Da):89,635
Last modified:November 2, 2010 - v4
Checksum:i15E09F9954DA8629
GO
Isoform 2 (identifier: Q92832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     549-595: Missing.

Show »
Length:763
Mass (Da):84,377
Checksum:i995411ADB36FAD7D
GO

Sequence cautioni

The sequence AAB06946 differs from that shown. Reason: Frameshift at positions 426 and 771.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti383N → D in AAB06946 (Ref. 7) Curated1
Sequence conflicti573Y → H in AAB06946 (Ref. 7) Curated1
Sequence conflicti626S → C in AAB06946 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04782882R → Q.4 PublicationsCorresponds to variant rs8176785dbSNPEnsembl.1
Natural variantiVAR_047829211F → V.Corresponds to variant rs35809043dbSNPEnsembl.1
Natural variantiVAR_047830287V → I.Corresponds to variant rs11820003dbSNPEnsembl.1
Natural variantiVAR_020167354R → W.Corresponds to variant rs8176786dbSNPEnsembl.1
Natural variantiVAR_035834553C → F in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039954549 – 595Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83017 mRNA. Translation: BAA11680.1.
AK313445 mRNA. Translation: BAG36234.1.
EU518937 Genomic DNA. Translation: ACB21040.1.
AC010811 Genomic DNA. No translation available.
AC067794 Genomic DNA. No translation available.
AC069575 Genomic DNA. No translation available.
AC087279 Genomic DNA. No translation available.
AC090707 Genomic DNA. No translation available.
AC090857 Genomic DNA. No translation available.
AC099730 Genomic DNA. No translation available.
AC105190 Genomic DNA. No translation available.
AC108460 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68328.1.
BC069674 mRNA. Translation: AAH69674.1.
BC096100 mRNA. Translation: AAH96100.1.
BC096101 mRNA. Translation: AAH96101.1.
BC096102 mRNA. Translation: AAH96102.1.
U57523 mRNA. Translation: AAB06946.1. Frameshift.
CCDSiCCDS44555.1. [Q92832-2]
CCDS7855.1. [Q92832-1]
RefSeqiNP_001275642.1. NM_001288713.1.
NP_001275643.1. NM_001288714.1.
NP_006148.2. NM_006157.4. [Q92832-1]
NP_963845.1. NM_201551.2. [Q92832-2]
UniGeneiHs.657172.

Genome annotation databases

EnsembliENST00000357134; ENSP00000349654; ENSG00000165973. [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973. [Q92832-2]
GeneIDi4745.
KEGGihsa:4745.
UCSCiuc001mqe.5. human. [Q92832-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83017 mRNA. Translation: BAA11680.1.
AK313445 mRNA. Translation: BAG36234.1.
EU518937 Genomic DNA. Translation: ACB21040.1.
AC010811 Genomic DNA. No translation available.
AC067794 Genomic DNA. No translation available.
AC069575 Genomic DNA. No translation available.
AC087279 Genomic DNA. No translation available.
AC090707 Genomic DNA. No translation available.
AC090857 Genomic DNA. No translation available.
AC099730 Genomic DNA. No translation available.
AC105190 Genomic DNA. No translation available.
AC108460 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68328.1.
BC069674 mRNA. Translation: AAH69674.1.
BC096100 mRNA. Translation: AAH96100.1.
BC096101 mRNA. Translation: AAH96101.1.
BC096102 mRNA. Translation: AAH96102.1.
U57523 mRNA. Translation: AAB06946.1. Frameshift.
CCDSiCCDS44555.1. [Q92832-2]
CCDS7855.1. [Q92832-1]
RefSeqiNP_001275642.1. NM_001288713.1.
NP_001275643.1. NM_001288714.1.
NP_006148.2. NM_006157.4. [Q92832-1]
NP_963845.1. NM_201551.2. [Q92832-2]
UniGeneiHs.657172.

3D structure databases

ProteinModelPortaliQ92832.
SMRiQ92832.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110820. 25 interactors.
IntActiQ92832. 17 interactors.
MINTiMINT-7034527.
STRINGi9606.ENSP00000349654.

PTM databases

iPTMnetiQ92832.
PhosphoSitePlusiQ92832.
SwissPalmiQ92832.

Polymorphism and mutation databases

BioMutaiNELL1.
DMDMi311033486.

Proteomic databases

PaxDbiQ92832.
PeptideAtlasiQ92832.
PRIDEiQ92832.

Protocols and materials databases

DNASUi4745.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357134; ENSP00000349654; ENSG00000165973. [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973. [Q92832-2]
GeneIDi4745.
KEGGihsa:4745.
UCSCiuc001mqe.5. human. [Q92832-1]

Organism-specific databases

CTDi4745.
DisGeNETi4745.
GeneCardsiNELL1.
H-InvDBHIX0009505.
HGNCiHGNC:7750. NELL1.
HPAiHPA051535.
MIMi602319. gene.
neXtProtiNX_Q92832.
OpenTargetsiENSG00000165973.
PharmGKBiPA31552.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR7C. Eukaryota.
ENOG410XSZA. LUCA.
GeneTreeiENSGT00810000125439.
HOGENOMiHOG000217920.
HOVERGENiHBG004805.
InParanoidiQ92832.
PhylomeDBiQ92832.
TreeFamiTF323325.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165973-MONOMER.

Miscellaneous databases

ChiTaRSiNELL1. human.
GeneWikiiNELL1.
GenomeRNAii4745.
PROiQ92832.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165973.
CleanExiHS_NELL1.
HS_NRP1.
ExpressionAtlasiQ92832. baseline and differential.
GenevisibleiQ92832. HS.

Family and domain databases

Gene3Di2.60.120.200. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR024731. EGF_dom.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF12947. EGF_3. 1 hit.
PF07645. EGF_CA. 3 hits.
PF00093. VWC. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
SM00214. VWC. 4 hits.
SM00215. VWC_out. 2 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 3 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNELL1_HUMAN
AccessioniPrimary (citable) accession number: Q92832
Secondary accession number(s): B2CKC1
, Q4VB90, Q4VB91, Q6NSY8, Q9Y472
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 162 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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.