Q92832 (NELL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein kinase C-binding protein NELL1

Alternative name(s):
NEL-like protein 1
Nel-related protein 1

Gene names

Name:	NELL1
Synonyms:	NRP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	810 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation
Cellular component	Cytoplasm Nucleus Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	EGF-like domain Repeat Signal
Ligand	Calcium
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cyclin catabolic process Inferred from direct assay Ref.8. Source: UniProtKB negative regulation of osteoblast proliferation Inferred from direct assay Ref.8. Source: UniProtKB nervous system development Traceable author statement Ref.1. Source: ProtInc positive regulation of bone mineralization Inferred from direct assay Ref.8. Source: UniProtKB positive regulation of osteoblast differentiation Inferred from direct assay Ref.8. Source: UniProtKB regulation of gene expression Inferred from direct assay Ref.8. Source: UniProtKB
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear envelope Inferred from direct assay Ref.8. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay Ref.8. Source: UniProtKB
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 810	789	Protein kinase C-binding protein NELL1		PRO_0000007664
Regions
	Domain	64 – 227	164	Laminin G-like
	Domain	271 – 332	62	VWFC 1
	Domain	434 – 475	42	EGF-like 1; calcium-binding Potential
	Domain	476 – 516	41	EGF-like 2; calcium-binding Potential
	Domain	517 – 547	31	EGF-like 3
	Domain	549 – 587	39	EGF-like 4; calcium-binding Potential
	Domain	596 – 631	36	EGF-like 5; calcium-binding Potential
	Domain	692 – 750	59	VWFC 2
Amino acid modifications
	Glycosylation	40	1	N-linked (GlcNAc...) Potential
	Glycosylation	53	1	N-linked (GlcNAc...) Potential
	Glycosylation	83	1	N-linked (GlcNAc...) Potential
	Glycosylation	224	1	N-linked (GlcNAc...) Potential
	Glycosylation	294	1	N-linked (GlcNAc...) Potential
	Glycosylation	372	1	N-linked (GlcNAc...) Potential
	Glycosylation	511	1	N-linked (GlcNAc...) Potential
	Glycosylation	562	1	N-linked (GlcNAc...) Potential
	Glycosylation	609	1	N-linked (GlcNAc...) Potential
	Glycosylation	708	1	N-linked (GlcNAc...) Potential
	Glycosylation	732	1	N-linked (GlcNAc...) Potential
	Glycosylation	758	1	N-linked (GlcNAc...) Potential
	Disulfide bond	395 ↔ 407		By similarity
	Disulfide bond	401 ↔ 416		By similarity
	Disulfide bond	418 ↔ 432		By similarity
	Disulfide bond	438 ↔ 451		By similarity
	Disulfide bond	445 ↔ 460		By similarity
	Disulfide bond	462 ↔ 474		By similarity
	Disulfide bond	480 ↔ 493		By similarity
	Disulfide bond	487 ↔ 502		By similarity
	Disulfide bond	504 ↔ 515		By similarity
	Disulfide bond	519 ↔ 529		By similarity
	Disulfide bond	523 ↔ 535		By similarity
	Disulfide bond	537 ↔ 546		By similarity
	Disulfide bond	553 ↔ 566		By similarity
	Disulfide bond	560 ↔ 575		By similarity
	Disulfide bond	577 ↔ 594		By similarity
	Disulfide bond	600 ↔ 613		By similarity
	Disulfide bond	607 ↔ 622		By similarity
	Disulfide bond	624 ↔ 630		By similarity
Natural variations
	Alternative sequence	549 – 595	47	Missing in isoform 2.		VSP_039954
	Natural variant	82	1	R → Q. Ref.1 Ref.2 Ref.3 Ref.6 Corresponds to variant rs8176785 [ dbSNP | Ensembl ].		VAR_047828
	Natural variant	211	1	F → V. Corresponds to variant rs35809043 [ dbSNP | Ensembl ].		VAR_047829
	Natural variant	287	1	V → I. Corresponds to variant rs11820003 [ dbSNP | Ensembl ].		VAR_047830
	Natural variant	354	1	R → W. Corresponds to variant rs8176786 [ dbSNP | Ensembl ].		VAR_020167
	Natural variant	553	1	C → F in a colorectal cancer sample; somatic mutation. Ref.9		VAR_035834
Experimental info
	Sequence conflict	383	1	N → D in AAB06946. Ref.7
	Sequence conflict	573	1	Y → H in AAB06946. Ref.7
	Sequence conflict	626	1	S → C in AAB06946. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 4. Checksum: 15E09F9954DA8629	FASTA	810	89,635
	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
	Isoform 2 [UniParc]. Checksum: 995411ADB36FAD7D	FASTA	763	84,377
	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 DECALRTHTC WNDSACINLA GGFDCLCPSG PSCSGDCPHE GGLKHNGQVW 610 620 630 640 650 660 TLKEDRCSVC SCKDGKIFCR RTACDCQNPS ADLFCCPECD TRVTSQCLDQ NGHKLYRSGD 670 680 690 700 710 720 NWTHSCQQCR CLEGEVDCWP LTCPNLSCEY TAILEGECCP RCVSDPCLAD NITYDIRKTC 730 740 750 760 LDSYGVSRLS GSVWTMAGSP CTTCKCKNGR VCCSVDFECL QNN

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00607581. IPI00974196.
RefSeq	NP_006148.2. NM_006157.3. NP_963845.1. NM_201551.1.
UniGene	Hs.657172.
3D structure databases
ProteinModelPortal	Q92832.
SMR	Q92832. Positions 48-211, 296-627.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92832. 4 interactions.
MINT	MINT-7034527.
STRING	9606.ENSP00000298925.
PTM databases
PhosphoSite	Q92832.
Polymorphism databases
DMDM	311033486.
Proteomic databases
PaxDb	Q92832.
PRIDE	Q92832.
Protocols and materials databases
DNASU	4745.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357134; ENSP00000349654; ENSG00000165973. ENST00000532434; ENSP00000437170; ENSG00000165973.
GeneID	4745.
KEGG	hsa:4745.
UCSC	uc001mqe.3. human. uc001mqf.3. human.
Organism-specific databases
CTD	4745.
GeneCards	GC11P020647.
H-InvDB	HIX0009505.
HGNC	HGNC:7750. NELL1.
HPA	HPA051535.
MIM	602319. gene.
neXtProt	NX_Q92832.
PharmGKB	PA31552.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253557.
HOGENOM	HOG000217920.
HOVERGEN	HBG004805.
InParanoid	Q92832.
OrthoDB	EOG4M0F11.
PhylomeDB	Q92832.
Gene expression databases
ArrayExpress	Q92832.
Bgee	Q92832.
CleanEx	HS_NELL1. HS_NRP1.
Genevestigator	Q92832.
GermOnline	ENSG00000165973. Homo sapiens.
Family and domain databases
Gene3D	2.60.120.200. 2 hits.
InterPro	IPR026823. cEGF. IPR008985. ConA-like_lec_gl_sf. IPR013320. ConA-like_subgrp. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR024731. EGF_dom_MSP1-like. IPR001791. Laminin_G. IPR001007. VWF_C. [Graphical view]
Pfam	PF12662. 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]
SMART	SM00181. EGF. 3 hits. SM00179. EGF_CA. 2 hits. SM00282. LamG. 1 hit. SM00210. TSPN. 1 hit. SM00214. VWC. 3 hits. [Graphical view]
SUPFAM	SSF49899. ConA_like_lec_gl. 1 hit.
PROSITE	PS00010. ASX_HYDROXYL. 3 hits. PS00022. EGF_1. 1 hit. PS01186. EGF_2. 3 hits. PS50026. EGF_3. 5 hits. PS01187. EGF_CA. 3 hits. PS50025. LAM_G_DOMAIN. False negative. PS01208. VWFC_1. 2 hits. PS50184. VWFC_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4745.
NextBio	18292.
SOURCE	Search...

Entry information

Entry name

NELL1_HUMAN

Accession

Primary (citable) accession number: Q92832
Secondary accession number(s): B2CKC1 , Q4VB90, Q4VB91, Q6NSY8, Q9Y472

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 130 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.