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  2. ZFP57 - ZFP57 zinc finger protein Gene

ZFP57 - ZFP57 zinc finger protein Gene

中文名称:ZFP57 锌指蛋白

种属: Homo sapiens

同用名: TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2

基因 ID: 346171 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种含有 KRAB 结构域的锌指蛋白。对小鼠的研究表明,这种蛋白质可能起到转录抑制因子的作用。该基因的突变与 1 型短暂性新生儿糖尿病 (TNDM1) 有关。[RefSeq 提供,2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chromatin binding IDA
IDA: 通过直接分析推断
30602440 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31403225 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autosome genomic imprinting IMP
IMP: 通过突变表型推断
18622393 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ZFP57 蛋白结构

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.
蛋白主名 其他名称

zinc finger protein 57 homolog

zfp-57

ZFP57 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ZFP57 Q9NU63 TRIM28 Homo sapiens Q13263 31403225
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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