1. Gene
  2. DPF1 - double PHD fingers 1 Gene

DPF1 - double PHD fingers 1 Gene

中文名称:双 PHD 手指 1

种属: Homo sapiens

同用名: NEUD4; BAF45b; SMARCG1; neuro-d4

基因 ID: 8193 | 基因类型: protein coding

关于 DPF1

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,211,006-38,229,695 (from NCBI)

This gene has 19 transcripts (splice variants), 191 orthologues and 9 paralogues. Biased expression in brain (RPKM 6.5) and testis (RPKM 0.6).

功能概要

启用序列特异性双链 DNA 结合活性。预计参与转录负调控,DNA 模板化;神经系统发育;和 RNA 聚合酶 II 对转录的正调控。预计位于细胞质中。预计成为 nBAF 综合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated; nervous system development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of nBAF complex. [provided by Alliance of Genome Resources, Apr 2022]

DPF1 基因产物(5)

mRNA Protein Name
NM_001135155.3 NP_001128627.2 zinc finger protein neuro-d4 isoform a
NM_001135156.3 NP_001128628.1 zinc finger protein neuro-d4 isoform c
NM_001289978.2 NP_001276907.2 zinc finger protein neuro-d4 isoform d
NM_001363579.1 NP_001350508.1 zinc finger protein neuro-d4 isoform e
NM_004647.4 NP_004638.3 zinc finger protein neuro-d4 isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

DPF1 蛋白结构

Requiem_N

Requiem_N: N-terminal domain of DPF2/REQ. (39 - 110)

PHD

PHD: PHD-finger (311 - 366)

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
蛋白主名 其他名称

zinc finger protein neuro-d4

BRG1-associated factor 45B

关联疾病

疾病名称 别名
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi

Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type

Hypercalcemic Type Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

Ovarian Small Cell Carcinoma, Hypercalcemic Type

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation

Autosomal Dominant Non-Syndromic Mental Retardation

Autosomal Dominant Non-Syndromic Intellectual Disability

Mental Retardation, Autosomal Dominant

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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
Canis familiaris DPF1 VGNC VGNC:40065
Bos taurus DPF1 VGNC VGNC:28175
Macaca mulatta DPF1 VGNC VGNC:71869
Rattus norvegicus DPF1 RGD RGD:61868
Felis catus DPF1 VGNC VGNC:61594
Mus musculus DPF1 MGD MGI:1352748