DPF1 - double PHD fingers 1 Gene

Homo sapiens

Also known as NEUD4; BAF45b; SMARCG1; neuro-d4

Gene ID: 8193 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

DPF1 Protein Structure

Requiem_N

PHD

0
100
200
300
380 a.a.

Protein Preferred Names

Protein Names

zinc finger protein neuro-d4

BRG1-associated factor 45B

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03949	DPF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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