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Protein

GDNF-inducible zinc finger protein 1

Gene

GZF1

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

Functioni

Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri317 – 340C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri348 – 371C2H2-type 2PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri377 – 400C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri407 – 429C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri435 – 457C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri463 – 485C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri491 – 513C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri519 – 541C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri547 – 569C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri575 – 597C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
GDNF-inducible zinc finger protein 1
Alternative name(s):
Zinc finger and BTB domain-containing protein 23
Zinc finger protein 336
Gene namesi
Name:GZF1Imported
Synonyms:ZBTB23, ZNF336
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125812.15
HGNCiHGNC:15808 GZF1
MIMi613842 gene
neXtProtiNX_Q9H116

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Joint laxity, short stature, and myopia (JLSM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment.
See also OMIM:617662
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080250289 – 711Missing in JLSM. 1 PublicationAdd BLAST423

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi32D → N: Decreased repression activity. 1 Publication1
Mutagenesisi50K → D: Decreased repression activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MalaCardsiGZF1
MIMi617662 phenotype
OpenTargetsiENSG00000125812
PharmGKBiPA162390561

Polymorphism and mutation databases

BioMutaiGZF1
DMDMi23397004

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000475391 – 711GDNF-inducible zinc finger protein 1Add BLAST711

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei613PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H116
MaxQBiQ9H116
PaxDbiQ9H116
PeptideAtlasiQ9H116
PRIDEiQ9H116
ProteomicsDBi80353

PTM databases

iPTMnetiQ9H116
PhosphoSitePlusiQ9H116

Expressioni

Tissue specificityi

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.1 Publication

Inductioni

By GDNF.1 Publication

Gene expression databases

BgeeiENSG00000125812 Expressed in 196 organ(s), highest expression level in right adrenal gland
CleanExiHS_GZF1
ExpressionAtlasiQ9H116 baseline and differential
GenevisibleiQ9H116 HS

Organism-specific databases

HPAiHPA024520

Interactioni

Subunit structurei

Interacts with NCL.1 Publication

Protein-protein interaction databases

BioGridi122164, 28 interactors
IntActiQ9H116, 4 interactors
STRINGi9606.ENSP00000338290

Structurei

3D structure databases

ProteinModelPortaliQ9H116
SMRiQ9H116
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 103BTBPROSITE-ProRule annotationAdd BLAST73

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri317 – 340C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri348 – 371C2H2-type 2PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri377 – 400C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri407 – 429C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri435 – 457C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri463 – 485C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri491 – 513C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri519 – 541C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri547 – 569C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri575 – 597C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00870000136554
HOVERGENiHBG054256
InParanoidiQ9H116
KOiK22402
OMAiEEFMAHK
OrthoDBiEOG091G02KC
PhylomeDBiQ9H116
TreeFamiTF350965

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 10 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H116-1) [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
MESGAVLLES KSSPFNLLHE MHELRLLGHL CDVTVSVEYQ GVRKDFMAHK
60 70 80 90 100
AVLAATSKFF KEVFLNEKSV DGTRTNVYLN EVQVADFASF LEFVYTAKVQ
110 120 130 140 150
VEEDRVQRML EVAEKLKCLD LSETCFQLKK QMLESVLLEL QNFSESQEVE
160 170 180 190 200
VSSGSQVSAA PAPRASVATD GPHPSGLTDS LDYPGERASN GMSSDLPPKK
210 220 230 240 250
SKDKLDKKKE VVKPPYPKIR RASGRLAGRK VFVEIPKKKY TRRLREQQKT
260 270 280 290 300
AEGDVGDYRC PQDQSPDRVG TEMEQVSKNE GCQAGAELEE LSKKAGPEEE
310 320 330 340 350
EEEEEEDEEG EKKKSNFKCS ICEKAFLYEK SFLKHSKHRH GVATEVVYRC
360 370 380 390 400
DTCGQTFANR CNLKSHQRHV HSSERHFPCE LCGKKFKRKK DVKRHVLQVH
410 420 430 440 450
EGGGERHRCG QCGKGLSSKT ALRLHERTHT GDRPYGCTEC GARFSQPSAL
460 470 480 490 500
KTHMRIHTGE KPFVCDECGA RFTQNHMLIY HKRCHTGERP FMCETCGKSF
510 520 530 540 550
ASKEYLKHHN RIHTGSKPFK CEVCFRTFAQ RNSLYQHIKV HTGERPYCCD
560 570 580 590 600
QCGKQFTQLN ALQRHRRIHT GERPFMCNAC GRTFTDKSTL RRHTSIHDKN
610 620 630 640 650
TPWKSFLVIV DGSPKNDDGH KTEQPDEEYV SSKLSDKLLS FAENGHFHNL
660 670 680 690 700
AAVQDTVPTM QENSSADTAC KADDSVVSQD TLLATTISEL SELTPQTDSM
710
PTQLHSLSNM E
Length:711
Mass (Da):80,492
Last modified:March 1, 2001 - v1
Checksum:i9209B850193BCF1A
GO
Isoform 2 (identifier: Q9H116-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-491: Missing.

Note: No experimental confirmation available.
Show »
Length:220
Mass (Da):24,911
Checksum:i2DB284F0FFE27FFC
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JXG1Q5JXG1_HUMAN
GDNF-inducible zinc finger protein ...
GZF1
48Annotation score:

Sequence cautioni

The sequence BAB15134 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71107 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti520K → R in BAG51726 (PubMed:14702039).Curated1
Sequence conflicti628E → G in BAG51726 (PubMed:14702039).Curated1
Sequence conflicti632S → P in BAB15134 (PubMed:14702039).Curated1
Sequence conflicti694T → A in BAG51726 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06471897A → V Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_052735190N → S. Corresponds to variant dbSNP:rs3810574Ensembl.1
Natural variantiVAR_059890275Q → L. Corresponds to variant dbSNP:rs6048760Ensembl.1
Natural variantiVAR_024212275Q → P1 PublicationCorresponds to variant dbSNP:rs6048760Ensembl.1
Natural variantiVAR_059891275Q → R. Corresponds to variant dbSNP:rs6048760Ensembl.1
Natural variantiVAR_080250289 – 711Missing in JLSM. 1 PublicationAdd BLAST423
Natural variantiVAR_052736318K → N. Corresponds to variant dbSNP:rs6114068Ensembl.1
Natural variantiVAR_052737667D → N. Corresponds to variant dbSNP:rs6048766Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559331 – 491Missing in isoform 2. 1 PublicationAdd BLAST491

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
AK293942 mRNA Translation: BAG57319.1
AK314599 mRNA Translation: BAG37170.1
AL096677 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10159.1
CH471133 Genomic DNA Translation: EAX10160.1
CCDSiCCDS13151.1 [Q9H116-1]
RefSeqiNP_001303941.1, NM_001317012.1 [Q9H116-1]
NP_001303948.1, NM_001317019.1
NP_071927.1, NM_022482.4 [Q9H116-1]
XP_011527623.1, XM_011529321.2 [Q9H116-1]
XP_011527624.1, XM_011529322.1 [Q9H116-1]
UniGeneiHs.709462
Hs.740897

Genome annotation databases

EnsembliENST00000338121; ENSP00000338290; ENSG00000125812 [Q9H116-1]
ENST00000377051; ENSP00000366250; ENSG00000125812 [Q9H116-1]
GeneIDi64412
KEGGihsa:64412
UCSCiuc002wsy.4 human [Q9H116-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
AK293942 mRNA Translation: BAG57319.1
AK314599 mRNA Translation: BAG37170.1
AL096677 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10159.1
CH471133 Genomic DNA Translation: EAX10160.1
CCDSiCCDS13151.1 [Q9H116-1]
RefSeqiNP_001303941.1, NM_001317012.1 [Q9H116-1]
NP_001303948.1, NM_001317019.1
NP_071927.1, NM_022482.4 [Q9H116-1]
XP_011527623.1, XM_011529321.2 [Q9H116-1]
XP_011527624.1, XM_011529322.1 [Q9H116-1]
UniGeneiHs.709462
Hs.740897

3D structure databases

ProteinModelPortaliQ9H116
SMRiQ9H116
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122164, 28 interactors
IntActiQ9H116, 4 interactors
STRINGi9606.ENSP00000338290

PTM databases

iPTMnetiQ9H116
PhosphoSitePlusiQ9H116

Polymorphism and mutation databases

BioMutaiGZF1
DMDMi23397004

Proteomic databases

EPDiQ9H116
MaxQBiQ9H116
PaxDbiQ9H116
PeptideAtlasiQ9H116
PRIDEiQ9H116
ProteomicsDBi80353

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338121; ENSP00000338290; ENSG00000125812 [Q9H116-1]
ENST00000377051; ENSP00000366250; ENSG00000125812 [Q9H116-1]
GeneIDi64412
KEGGihsa:64412
UCSCiuc002wsy.4 human [Q9H116-1]

Organism-specific databases

CTDi64412
EuPathDBiHostDB:ENSG00000125812.15
GeneCardsiGZF1
HGNCiHGNC:15808 GZF1
HPAiHPA024520
MalaCardsiGZF1
MIMi613842 gene
617662 phenotype
neXtProtiNX_Q9H116
OpenTargetsiENSG00000125812
PharmGKBiPA162390561
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00870000136554
HOVERGENiHBG054256
InParanoidiQ9H116
KOiK22402
OMAiEEFMAHK
OrthoDBiEOG091G02KC
PhylomeDBiQ9H116
TreeFamiTF350965

Miscellaneous databases

ChiTaRSiGZF1 human
GenomeRNAii64412
PROiPR:Q9H116
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125812 Expressed in 196 organ(s), highest expression level in right adrenal gland
CleanExiHS_GZF1
ExpressionAtlasiQ9H116 baseline and differential
GenevisibleiQ9H116 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 10 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGZF1_HUMAN
AccessioniPrimary (citable) accession number: Q9H116
Secondary accession number(s): A8K199
, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H117, Q9H6W6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 163 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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