2. Gene
  3. ZNF148 - zinc finger protein 148 Gene

ZNF148 - zinc finger protein 148 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：锌指蛋白 148

种属: Homo sapiens

同用名: BERF-1; BFCOL1; GDACCF; ZBP-89; ZFP148; pHZ-52; HT-BETA

基因 ID: 7707 | 基因类型: protein coding

关于 ZNF148

Cytogenetic location: 3q21.2 Genomic coordinates (GRCh38): 3:125,225,669-125,375,354 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 14.7), ovary (RPKM 6.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是锌指 DNA 结合蛋白 Kruppel 家族的成员。编码的蛋白质激活 T 细胞受体和肠道碱性磷酸酶基因的转录，但抑制鸟氨酸脱羧酶、波形蛋白、胃泌素、溶栓素和烯醇化酶基因的转录。该基因表达的增加导致结直肠癌患者的存活率降低，而该基因的突变与整体发育迟缓、胼胝体发育不全和畸形面容有关。[RefSeq 提供，2017 年 2 月]

The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal Alkaline Phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, Gastrin, stomelysin, and Enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal Cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]

ZNF148 基因产物(13)

mRNA Protein Name
NM_001348424.1 NP_001335353.1 zinc finger protein 148 isoform a
NM_001348425.2 NP_001335354.1 zinc finger protein 148 isoform a
NM_001348426.2 NP_001335355.1 zinc finger protein 148 isoform a
NM_001348427.2 NP_001335356.1 zinc finger protein 148 isoform a
NM_001348428.2 NP_001335357.1 zinc finger protein 148 isoform a
NM_001348429.2 NP_001335358.1 zinc finger protein 148 isoform a
NM_001348430.2 NP_001335359.1 zinc finger protein 148 isoform a
NM_001348431.2 NP_001335360.1 zinc finger protein 148 isoform a
NM_001348432.2 NP_001335361.1 zinc finger protein 148 isoform a
NM_001348433.2 NP_001335362.1 zinc finger protein 148 isoform a
NM_001348434.2 NP_001335363.1 zinc finger protein 148 isoform b
NM_001348436.2 NP_001335365.1 zinc finger protein 148 isoform c
NM_021964.3 NP_068799.2 zinc finger protein 148 isoform a
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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
12771217 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12771217 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12771217 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12771217 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12771217 GOA
involved in negative regulation of gene expression IDA
IDA: 通过直接分析推断
12771217 GOA
involved in negative regulation of transcription by RNA polymerase II EXP
EXP: 通过实验结果推断
9685330 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12771217 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

ZNF148 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (185 - 208)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (214 - 236)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (242 - 265)

  • 0
  • 200
  • 400
  • 600
  • 794 a.a.
蛋白主名 其他名称

zinc finger protein 148

CACCC box-binding protein

ZNF148 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
Intra ZNF148 Q9UQR1 GLRX3 Homo sapiens O76003
Y2H Array
25416956
Intra ZNF148 Q9UQR1 GLRX3 Homo sapiens O76003
Validated Y2H
25416956
Intra ZNF148 Q9UQR1 TRIM10 Homo sapiens Q9UDY6
Y2H Array
25416956
Intra ZNF148 Q9UQR1 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
25416956
Intra ZNF148 Q9UQR1 GORASP2 Homo sapiens Q9H8Y8
Y2H Prey Pooling
25416956
Intra ZNF148 Q9UQR1 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
25416956
Intra ZNF148 Q9UQR1 CEP70 Homo sapiens Q8NHQ1
Y2H Array
25416956
Intra ZNF148 Q9UQR1 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra ZNF148 Q9UQR1 DEUP1 Homo sapiens Q05D60
Validated Y2H
25416956
Intra ZNF148 Q9UQR1 DEUP1 Homo sapiens Q05D60
Y2H Prey Pooling
25416956
Intra ZNF148 Q9UQR1 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
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
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies

GDACCF

Developmental Disabilities
Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS16104 ZNF148 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ZNF148 VGNC VGNC:48663
Felis catus ZNF148 VGNC VGNC:67269
Rattus norvegicus ZNF148 RGD RGD:62063
Macaca mulatta ZNF148 VGNC VGNC:78848
Mus musculus ZNF148 MGD MGI:1332234
Bos taurus ZNF148 VGNC VGNC:37212
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