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ZFP57 - ZFP57 zinc finger protein Gene

Also Known as TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 346171

About ZFP57

Cytogenetic location: 6p22.1 Genomic coordinates (GRCh38): 6:29,672,392-29,681,152 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 70 orthologues, 51 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 2.7), brain (RPKM 1.0) and 13 other tissues.

Summary

The protein encoded by this gene is a Zinc Finger Protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]

ZFP57 Products (2)

mRNA	Protein	Name
NM_001109809.5	NP_001103279.2	zinc finger protein 57 homolog isoform 1
NM_001366333.2	NP_001353262.1	zinc finger protein 57 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	30602440	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31403225	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autosome genomic imprinting	IMP IMP: Inferred from mutant phenotype	18622393	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZFP57 Protein Structure

KRAB

zf-C2H2

zf-H2C2_2

zf-C2H2

zf-C2H2_4

0
100
200
300
400
516 a.a.

Protein Preferred Names	Protein Names
zinc finger protein 57 homolog	zfp-57

ZFP57 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ZFP57	Q9NU63	TRIM28	Homo sapiens	Q13263	Anti Tag CoIP	31403225

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Diabetes Mellitus, Transient Neonatal, 1	TNDM1 6q24-Related Diabetes Mellitus Tndm Dmtn Diabetes Mellitus, Transient Neonatal 1 Transient Neonatal Diabetes Mellitus
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Diabetes Mellitus	Diabetes
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Umbilical Hernia	Hernia, Umbilical
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16044	ZFP57 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ZFP57	RGD	RGD:1302981
Macaca mulatta	ZFP57	VGNC	VGNC:99467
Mus musculus	ZFP57	MGD	MGI:99204
Bos taurus	ZFP57	VGNC	VGNC:37165
Others	ZFP57	NCBI