DPF1 - double PHD fingers 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8193

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
Molecular Function GO Annotation Evidence References 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

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

PHD

PHD: PHD-finger (311 - 366)

  • 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

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
Others DPF1 NCBI