Q9H116 (GZF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GDNF-inducible zinc finger protein 1

Alternative name(s):
Zinc finger and BTB domain-containing protein 23
Zinc finger protein 336

Gene names

Name:	GZF1
Synonyms:	ZBTB23, ZNF336

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

General annotation (Comments)

Function	Transcriptional repressor. Binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression. Ref.1 Ref.5
Subunit structure	Interacts with NCL. Ref.6
Subcellular location	Nucleus › nucleoplasm. Nucleus › nucleolus. Note: Nuclear localization depends upon NCL. Ref.1 Ref.6
Tissue specificity	Expressed in adult brain, heart, skeletal muscle, kidney and liver. Also detected in fetal brain and kidney, and at lower levels in fetal lung and liver. Ref.1
Induction	By GDNF. Ref.1
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 BTB (POZ) domain. Contains 10 C2H2-type zinc fingers.
Sequence caution	The sequence BAB15134.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB71107.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	branching involved in ureteric bud morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.5. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from direct assay Ref.5. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 711	711	GDNF-inducible zinc finger protein 1		PRO_0000047539
Regions
	Domain	31 – 103	73	BTB
	Zinc finger	317 – 340	24	C2H2-type 1
	Zinc finger	348 – 371	24	C2H2-type 2
	Zinc finger	377 – 400	24	C2H2-type 3
	Zinc finger	407 – 429	23	C2H2-type 4
	Zinc finger	435 – 457	23	C2H2-type 5
	Zinc finger	463 – 485	23	C2H2-type 6
	Zinc finger	491 – 513	23	C2H2-type 7
	Zinc finger	519 – 541	23	C2H2-type 8
	Zinc finger	547 – 569	23	C2H2-type 9
	Zinc finger	575 – 597	23	C2H2-type 10
Natural variations
	Natural variant	97	1	A → V Found in a renal cell carcinoma sample; somatic mutation. Ref.7		VAR_064718
	Natural variant	190	1	N → S. Corresponds to variant rs3810574 [ dbSNP | Ensembl ].		VAR_052735
	Natural variant	275	1	Q → L. Corresponds to variant rs6048760 [ dbSNP | Ensembl ].		VAR_059890
	Natural variant	275	1	Q → P. Ref.2 Corresponds to variant rs6048760 [ dbSNP | Ensembl ].		VAR_024212
	Natural variant	275	1	Q → R. Corresponds to variant rs6048760 [ dbSNP | Ensembl ].		VAR_059891
	Natural variant	318	1	K → N. Corresponds to variant rs6114068 [ dbSNP | Ensembl ].		VAR_052736
	Natural variant	667	1	D → N. Corresponds to variant rs6048766 [ dbSNP | Ensembl ].		VAR_052737
Experimental info
	Mutagenesis	32	1	D → N: Decreased repression activity. Ref.1
	Mutagenesis	50	1	K → D: Decreased repression activity. Ref.1
	Sequence conflict	520	1	K → R in BAG51726. Ref.2
	Sequence conflict	628	1	E → G in BAG51726. Ref.2
	Sequence conflict	632	1	S → P in BAB15134. Ref.2
	Sequence conflict	694	1	T → A in BAG51726. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9H116 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 9209B850193BCF1A	FASTA	711	80,492
	10 20 30 40 50 60 MESGAVLLES KSSPFNLLHE MHELRLLGHL CDVTVSVEYQ GVRKDFMAHK AVLAATSKFF 70 80 90 100 110 120 KEVFLNEKSV DGTRTNVYLN EVQVADFASF LEFVYTAKVQ VEEDRVQRML EVAEKLKCLD 130 140 150 160 170 180 LSETCFQLKK QMLESVLLEL QNFSESQEVE VSSGSQVSAA PAPRASVATD GPHPSGLTDS 190 200 210 220 230 240 LDYPGERASN GMSSDLPPKK SKDKLDKKKE VVKPPYPKIR RASGRLAGRK VFVEIPKKKY 250 260 270 280 290 300 TRRLREQQKT AEGDVGDYRC PQDQSPDRVG TEMEQVSKNE GCQAGAELEE LSKKAGPEEE 310 320 330 340 350 360 EEEEEEDEEG EKKKSNFKCS ICEKAFLYEK SFLKHSKHRH GVATEVVYRC DTCGQTFANR 370 380 390 400 410 420 CNLKSHQRHV HSSERHFPCE LCGKKFKRKK DVKRHVLQVH EGGGERHRCG QCGKGLSSKT 430 440 450 460 470 480 ALRLHERTHT GDRPYGCTEC GARFSQPSAL KTHMRIHTGE KPFVCDECGA RFTQNHMLIY 490 500 510 520 530 540 HKRCHTGERP FMCETCGKSF ASKEYLKHHN RIHTGSKPFK CEVCFRTFAQ RNSLYQHIKV 550 560 570 580 590 600 HTGERPYCCD QCGKQFTQLN ALQRHRRIHT GERPFMCNAC GRTFTDKSTL RRHTSIHDKN 610 620 630 640 650 660 TPWKSFLVIV DGSPKNDDGH KTEQPDEEYV SSKLSDKLLS FAENGHFHNL AAVQDTVPTM 670 680 690 700 710 QENSSADTAC KADDSVVSQD TLLATTISEL SELTPQTDSM PTQLHSLSNM E

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel glial cell line-derived neurotrophic factor-inducible gene required for renal branching morphogenesis." Fukuda N., Ichihara M., Morinaga T., Kawai K., Hayashi H., Murakumo Y., Matsuo S., Takahashi M. J. Biol. Chem. 278:50386-50392(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, MUTAGENESIS OF ASP-32 AND LYS-50. Tissue: Neuroblastoma.
[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], VARIANT PRO-275. Tissue: Brain, Hepatoma, Teratocarcinoma and Trachea.
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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].
[5]	"GDNF-inducible zinc finger protein 1 is a sequence-specific transcriptional repressor that binds to the HOXA10 gene regulatory region." Morinaga T., Enomoto A., Shimono Y., Hirose F., Fukuda N., Dambara A., Jijiwa M., Kawai K., Hashimoto K., Ichihara M., Asai N., Murakumo Y., Matsuo S., Takahashi M. Nucleic Acids Res. 33:4191-4201(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[6]	"Nucleolin modulates the subcellular localization of GDNF-inducible zinc finger protein 1 and its roles in transcription and cell proliferation." Dambara A., Morinaga T., Fukuda N., Yamakawa Y., Kato T., Enomoto A., Asai N., Murakumo Y., Matsuo S., Takahashi M. Exp. Cell Res. 313:3755-3766(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NCL, SUBCELLULAR LOCATION.
[7]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A. Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT VAL-97.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB100265 mRNA. Translation: BAC98464.1. AK025447 mRNA. Translation: BAB15134.1. Different initiation. AK056159 mRNA. Translation: BAB71107.1. Different initiation. AK056477 mRNA. Translation: BAG51726.1. AK289814 mRNA. Translation: BAF82503.1. AK314599 mRNA. Translation: BAG37170.1. AL096677 Genomic DNA. Translation: CAC03438.2. CH471133 Genomic DNA. Translation: EAX10159.1. CH471133 Genomic DNA. Translation: EAX10160.1.
IPI	IPI00033892.
RefSeq	NP_071927.1. NM_022482.3.
UniGene	Hs.709462.
3D structure databases
ProteinModelPortal	Q9H116.
ModBase	Search...
PTM databases
PhosphoSite	Q9H116.
Polymorphism databases
DMDM	23397004.
Proteomic databases
PaxDb	Q9H116.
PRIDE	Q9H116.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000338121; ENSP00000338290; ENSG00000125812. ENST00000377051; ENSP00000366250; ENSG00000125812.
GeneID	64412.
KEGG	hsa:64412.
UCSC	uc002wsy.3. human.
Organism-specific databases
CTD	64412.
GeneCards	GC20P023342.
HGNC	HGNC:15808. GZF1.
HPA	HPA024520.
MIM	613842. gene.
neXtProt	NX_Q9H116.
PharmGKB	PA162390561.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOVERGEN	HBG054256.
InParanoid	Q9H116.
OMA	DGSPKND.
OrthoDB	EOG4BP1BH.
PhylomeDB	Q9H116.
Gene expression databases
ArrayExpress	Q9H116.
Bgee	Q9H116.
CleanEx	HS_GZF1.
Genevestigator	Q9H116.
GermOnline	ENSG00000125812. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 9 hits. 3.30.710.10. 1 hit.
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00651. BTB. 1 hit. PF00096. zf-C2H2. 1 hit. [Graphical view]
SMART	SM00225. BTB. 1 hit. SM00355. ZnF_C2H2. 10 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 10 hits. PS50157. ZINC_FINGER_C2H2_2. 10 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GZF1. human.
GenomeRNAi	64412.
NextBio	66378.
SOURCE	Search...

Entry information

Entry name

GZF1_HUMAN

Accession

Primary (citable) accession number: Q9H116
Secondary accession number(s): A8K199 , B2RBC3, B3KPL4, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H117, Q9H6W6

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 111 of the entry and version 1 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.