1. Gene
  2. ZFP57 - ZFP57 zinc finger protein Gene

ZFP57 - ZFP57 zinc finger protein Gene

Homo sapiens

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

Gene ID: 346171 | Gene type: protein coding

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 Reference 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 Reference 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

KRAB: KRAB box (24 - 63)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (155 - 177)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (197 - 220)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (239 - 261)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (364 - 386)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (393 - 414)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (420 - 440)

  • 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 Reference
Intra
ZFP57 Q9NU63 TRIM28 Homo sapiens Q13263 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

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