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Q92832 (NELL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein kinase C-binding protein NELL1
Alternative name(s):
NEL-like protein 1
Nel-related protein 1
Gene names
Name:NELL1
Synonyms:NRP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length810 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization. Ref.8

Subunit structure

Homotrimer. Binds to PKC beta-1 By similarity. Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization. Ref.8

Subcellular location

Cytoplasm. Nucleus envelope. Secreted By similarity. Note: Colocalizes with ATRAID on the nuclear envelope and the perinuclear region. Ref.8

Sequence similarities

Contains 5 EGF-like domains.

Contains 1 laminin G-like domain.

Contains 2 VWFC domains.

Sequence caution

The sequence AAB06946.1 differs from that shown. Reason: Frameshift at positions 426 and 771.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ATRAIDQ6UW564EBI-947754,EBI-723802

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92832-1)

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.
Isoform 2 (identifier: Q92832-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 810789Protein kinase C-binding protein NELL1
PRO_0000007664

Regions

Domain64 – 227164Laminin G-like
Domain271 – 33262VWFC 1
Domain434 – 47542EGF-like 1; calcium-binding Potential
Domain476 – 51641EGF-like 2; calcium-binding Potential
Domain517 – 54731EGF-like 3
Domain549 – 58739EGF-like 4; calcium-binding Potential
Domain596 – 63136EGF-like 5; calcium-binding Potential
Domain692 – 75059VWFC 2

Amino acid modifications

Glycosylation401N-linked (GlcNAc...) Potential
Glycosylation531N-linked (GlcNAc...) Potential
Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation2241N-linked (GlcNAc...) Potential
Glycosylation2941N-linked (GlcNAc...) Potential
Glycosylation3721N-linked (GlcNAc...) Potential
Glycosylation5111N-linked (GlcNAc...) Potential
Glycosylation5621N-linked (GlcNAc...) Potential
Glycosylation6091N-linked (GlcNAc...) Potential
Glycosylation7081N-linked (GlcNAc...) Potential
Glycosylation7321N-linked (GlcNAc...) Potential
Glycosylation7581N-linked (GlcNAc...) Potential
Disulfide bond395 ↔ 407 By similarity
Disulfide bond401 ↔ 416 By similarity
Disulfide bond418 ↔ 432 By similarity
Disulfide bond438 ↔ 451 By similarity
Disulfide bond445 ↔ 460 By similarity
Disulfide bond462 ↔ 474 By similarity
Disulfide bond480 ↔ 493 By similarity
Disulfide bond487 ↔ 502 By similarity
Disulfide bond504 ↔ 515 By similarity
Disulfide bond519 ↔ 529 By similarity
Disulfide bond523 ↔ 535 By similarity
Disulfide bond537 ↔ 546 By similarity
Disulfide bond553 ↔ 566 By similarity
Disulfide bond560 ↔ 575 By similarity
Disulfide bond577 ↔ 594 By similarity
Disulfide bond600 ↔ 613 By similarity
Disulfide bond607 ↔ 622 By similarity
Disulfide bond624 ↔ 630 By similarity

Natural variations

Alternative sequence549 – 59547Missing in isoform 2.
VSP_039954
Natural variant821R → Q. Ref.1 Ref.2 Ref.3 Ref.6
Corresponds to variant rs8176785 [ dbSNP | Ensembl ].
VAR_047828
Natural variant2111F → V.
Corresponds to variant rs35809043 [ dbSNP | Ensembl ].
VAR_047829
Natural variant2871V → I.
Corresponds to variant rs11820003 [ dbSNP | Ensembl ].
VAR_047830
Natural variant3541R → W.
Corresponds to variant rs8176786 [ dbSNP | Ensembl ].
VAR_020167
Natural variant5531C → F in a colorectal cancer sample; somatic mutation. Ref.9
VAR_035834

Experimental info

Sequence conflict3831N → D in AAB06946. Ref.7
Sequence conflict5731Y → H in AAB06946. Ref.7
Sequence conflict6261S → C in AAB06946. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 4.
Checksum: 15E09F9954DA8629

FASTA81089,635
        10         20         30         40         50         60 
MPMDLILVVW FCVCTARTVV GFGMDPDLQM DIVTELDLVN TTLGVAQVSG MHNASKAFLF 

        70         80         90        100        110        120 
QDIEREIHAA PHVSEKLIQL FRNKSEFTIL ATVQQKPSTS GVILSIRELE HSYFELESSG 

       130        140        150        160        170        180 
LRDEIRYHYI HNGKPRTEAL PYRMADGQWH KVALSVSASH LLLHVDCNRI YERVIDPPDT 

       190        200        210        220        230        240 
NLPPGINLWL GQRNQKHGLF KGIIQDGKII FMPNGYITQC PNLNHTCPTC SDFLSLVQGI 

       250        260        270        280        290        300 
MDLQELLAKM TAKLNYAETR LSQLENCHCE KTCQVSGLLY RDQDSWVDGD HCRNCTCKSG 

       310        320        330        340        350        360 
AVECRRMSCP PLNCSPDSLP VHIAGQCCKV CRPKCIYGGK VLAEGQRILT KSCRECRGGV 

       370        380        390        400        410        420 
LVKITEMCPP LNCSEKDHIL PENQCCRVCR GHNFCAEGPK CGENSECKNW NTKATCECKS 

       430        440        450        460        470        480 
GYISVQGDSA YCEDIDECAA KMHYCHANTV CVNLPGLYRC DCVPGYIRVD DFSCTEHDEC 

       490        500        510        520        530        540 
GSGQHNCDEN AICTNTVQGH SCTCKPGYVG NGTICRAFCE EGCRYGGTCV APNKCVCPSG 

       550        560        570        580        590        600 
FTGSHCEKDI DECSEGIIEC HNHSRCVNLP GWYHCECRSG FHDDGTYSLS GESCIDIDEC 

       610        620        630        640        650        660 
ALRTHTCWND SACINLAGGF DCLCPSGPSC SGDCPHEGGL KHNGQVWTLK EDRCSVCSCK 

       670        680        690        700        710        720 
DGKIFCRRTA CDCQNPSADL FCCPECDTRV TSQCLDQNGH KLYRSGDNWT HSCQQCRCLE 

       730        740        750        760        770        780 
GEVDCWPLTC PNLSCEYTAI LEGECCPRCV SDPCLADNIT YDIRKTCLDS YGVSRLSGSV 

       790        800        810 
WTMAGSPCTT CKCKNGRVCC SVDFECLQNN 

« Hide

Isoform 2 [UniParc].

Checksum: 995411ADB36FAD7D
Show »

FASTA76384,377

References

« Hide 'large scale' references
[1]"Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats."
Watanabe T.K., Katagiri T., Suzuki M., Shimizu F., Fujiwara T., Kanemoto N., Nakamura Y., Hirai Y., Maekawa H., Takahashi E.
Genomics 38:273-276(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-82.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-82.
Tissue: Amygdala.
[3]NIEHS SNPs program
Submitted (FEB-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-82.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLN-82.
[7]"Nel homolog gene expression in craniofacial anomalies."
Ting K., Vastardis H., Mulliken J.B., Bertolami C., Wen Z., Young M., Tieu A., Kwong E.
Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 383-810 (ISOFORMS 1/2).
[8]"NELL-1 binds to APR3 affecting human osteoblast proliferation and differentiation."
Zou X., Shen J., Chen F., Ting K., Zheng Z., Pang S., Zara J.N., Adams J.S., Soo C., Zhang X.
FEBS Lett. 585:2410-2418(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN OSTEOBLAST DIFFERENTIATION, INTERACTION WITH ATRAID, SUBCELLULAR LOCATION.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-553.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001275642.1. NM_001288713.1.
NP_001275643.1. NM_001288714.1.
NP_006148.2. NM_006157.4.
NP_963845.1. NM_201551.2.
UniGeneHs.657172.

3D structure databases

ProteinModelPortalQ92832.
SMRQ92832. Positions 269-627, 692-752.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110820. 4 interactions.
IntActQ92832. 16 interactions.
MINTMINT-7034527.
STRING9606.ENSP00000298925.

PTM databases

PhosphoSiteQ92832.

Polymorphism databases

DMDM311033486.

Proteomic databases

PaxDbQ92832.
PRIDEQ92832.

Protocols and materials databases

DNASU4745.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357134; ENSP00000349654; ENSG00000165973. [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973. [Q92832-2]
GeneID4745.
KEGGhsa:4745.
UCSCuc001mqe.3. human. [Q92832-1]
uc001mqf.3. human. [Q92832-2]

Organism-specific databases

CTD4745.
GeneCardsGC11P020647.
H-InvDBHIX0009505.
HGNCHGNC:7750. NELL1.
HPAHPA051535.
MIM602319. gene.
neXtProtNX_Q92832.
PharmGKBPA31552.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253557.
HOGENOMHOG000217920.
HOVERGENHBG004805.
InParanoidQ92832.
PhylomeDBQ92832.
TreeFamTF323325.

Gene expression databases

ArrayExpressQ92832.
BgeeQ92832.
CleanExHS_NELL1.
HS_NRP1.
GenevestigatorQ92832.

Family and domain databases

Gene3D2.60.120.200. 2 hits.
InterProIPR026823. cEGF.
IPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR024731. EGF_dom_MSP1-like.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001791. Laminin_G.
IPR001007. VWF_C.
[Graphical view]
PfamPF12662. cEGF. 1 hit.
PF12947. EGF_3. 1 hit.
PF07645. EGF_CA. 1 hit.
PF12661. hEGF. 1 hit.
PF02210. Laminin_G_2. 1 hit.
PF00093. VWC. 2 hits.
[Graphical view]
SMARTSM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
SM00214. VWC. 3 hits.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEPS00010. 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]
ProtoNetSearch...

Other

GeneWikiNELL1.
GenomeRNAi4745.
NextBio18292.
PROQ92832.
SOURCESearch...

Entry information

Entry nameNELL1_HUMAN
AccessionPrimary (citable) accession number: Q92832
Secondary accession number(s): B2CKC1 expand/collapse secondary AC list , Q4VB90, Q4VB91, Q6NSY8, Q9Y472
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: March 19, 2014
This is version 138 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM