Q9Y4Z2 (NGN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurogenin-3
Short name=NGN-3

Alternative name(s):
Class A basic helix-loop-helix protein 7
Short name=bHLHa7
Protein atonal homolog 5

Gene names

Name:	NEUROG3
Synonyms:	ATOH5, BHLHA7, NGN3

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	214 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types By similarity.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein By similarity.
Subcellular location	Nucleus Potential.
Involvement in disease	Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Disease	Disease mutation
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system development Traceable author statement PubMed 9000438. Source: ProtInc endocrine pancreas development Traceable author statement. Source: Reactome epithelial cell differentiation Inferred from electronic annotation. Source: Compara forebrain development Inferred from electronic annotation. Source: Compara hindbrain development Inferred from electronic annotation. Source: Compara peripheral nervous system development Traceable author statement PubMed 9000438. Source: ProtInc positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB spinal cord development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from electronic annotation. Source: Compara double-stranded DNA binding Inferred from electronic annotation. Source: Compara transcription coactivator activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 214	214	Neurogenin-3		PRO_0000127402
Regions
	Domain	83 – 135	53	bHLH
Natural variations
	Natural variant	93	1	R → L in DIAR4; attenuated NEUROG3 function in vivo. Ref.7		VAR_029003
	Natural variant	107	1	R → S in DIAR4; attenuated NEUROG3 function in vivo. Ref.7		VAR_029004
	Natural variant	199	1	F → S. Ref.1 Ref.2 Ref.6 Corresponds to variant rs4536103 [ dbSNP | Ensembl ].		VAR_055316
Experimental info
	Sequence conflict	43	1	R → P in CAB45384. Ref.1
	Sequence conflict	98	1	N → D in CAB45384. Ref.1
	Sequence conflict	165	1	S → P in CAB45384. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y4Z2 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 2E80623E46F88B83	FASTA	214	23,077
	10 20 30 40 50 60 MTPQPSGAPT VQVTRETERS FPRASEDEVT CPTSAPPSPT RTRGNCAEAE EGGCRGAPRK 70 80 90 100 110 120 LRARRGGRSR PKSELALSKQ RRSRRKKAND RERNRMHNLN SALDALRGVL PTFPDDAKLT 130 140 150 160 170 180 KIETLRFAHN YIWALTQTLR IADHSLYALE PPAPHCGELG SPGGSPGDWG SLYSPVSQAG 190 200 210 SLSPAASLEE RPGLLGATFS ACLSPGSLAF SDFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human neurogenin 3 homolog maps to chromosome 10q21.3 and its expression pattern is identical to that of its murine counterparts." Ravassard P., Icard-Liepkalns C., Wiard L., Julien J.P., Mallet J. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-199.
[2]	"Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the coding region of the proendocrine neurogenin 3 gene (NEUROG3) in Japanese patients with MODY." del Bosque-Plata L., Lin J., Horikawa Y., Schwarz P.E.H., Cox N.J., Iwasaki N., Iwamoto Y., German M., Bell G. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-199.
[3]	"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]. Tissue: Rectum.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [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 (JUL-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], VARIANT SER-199.
[7]	"Mutant neurogenin-3 in congenital malabsorptive diarrhea." Wang J., Cortina G., Wu S.V., Tran R., Cho J.-H., Tsai M.-J., Bailey T.J., Jamrich M., Ament M.E., Treem W.R., Hill I.D., Vargas J.H., Gershman G., Farmer D.G., Reyen L., Martin M.G. N. Engl. J. Med. 355:270-280(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DIAR4 LEU-93 AND SER-107, CHARACTERIZATION OF VARIANTS DIAR4 LEU-93 AND SER-107.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ133776 Genomic DNA. Translation: CAB45384.1. AF234829 Genomic DNA. Translation: AAK15022.1. AK313952 mRNA. Translation: BAG36669.1. AL450311 Genomic DNA. Translation: CAH72729.1. CH471083 Genomic DNA. Translation: EAW54328.1. BC074938 mRNA. Translation: AAH74938.1. BC074939 mRNA. Translation: AAH74939.1. BC117488 mRNA. Translation: AAI17489.1. BC126468 mRNA. Translation: AAI26469.1.
IPI	IPI00025789.
RefSeq	NP_066279.2. NM_020999.3.
UniGene	Hs.532682.
3D structure databases
ProteinModelPortal	Q9Y4Z2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000242462.
PTM databases
PhosphoSite	Q9Y4Z2.
Polymorphism databases
DMDM	229462908.
Proteomic databases
PaxDb	Q9Y4Z2.
PRIDE	Q9Y4Z2.
Protocols and materials databases
DNASU	50674.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242462; ENSP00000242462; ENSG00000122859.
GeneID	50674.
KEGG	hsa:50674.
UCSC	uc001jpp.3. human.
Organism-specific databases
CTD	50674.
GeneCards	GC10M071331.
H-InvDB	HIX0035408.
HGNC	HGNC:13806. NEUROG3.
HPA	HPA039785.
MIM	604882. gene. 610370. phenotype.
neXtProt	NX_Q9Y4Z2.
Orphanet	83620. Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells.
PharmGKB	PA31571.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG327835.
HOGENOM	HOG000063655.
HOVERGEN	HBG031743.
InParanoid	Q9Y4Z2.
KO	K08028.
OMA	KKANDRE.
OrthoDB	EOG4JM7R1.
PhylomeDB	Q9Y4Z2.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	Q9Y4Z2.
Bgee	Q9Y4Z2.
CleanEx	HS_NEUROG3.
Genevestigator	Q9Y4Z2.
GermOnline	ENSG00000122859. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	50674.
NextBio	53214.
SOURCE	Search...

Entry information

Entry name

NGN3_HUMAN

Accession

Primary (citable) accession number: Q9Y4Z2
Secondary accession number(s): Q5VVI0, Q6DJX6, Q9BY24

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 101 of the entry and version 2 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.