POU3F1 - POU class 3 homeobox 1 Gene

Also Known as OCT6; OTF6; SCIP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5453

About POU3F1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:38,043,829-38,046,793 (from NCBI)

This gene has 1 transcript (splice variant), 249 orthologues and 17 paralogues.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of gene expression; and positive regulation of transcription, DNA-templated. Predicted to act upstream of or within keratinocyte differentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

POU3F1 Products (1)

mRNA Protein Name
NM_002699.4 NP_002690.3 POU domain, class 3, transcription factor 1
Molecular Function GO Annotation Evidence Références Source
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9242494 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

POU3F1 Protein Structure

Pou

Pou: Pou domain - N-terminal to homeobox domain (248 - 321)

Homeobox

Homeobox: Homeobox domain (340 - 396)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 451 a.a.
Protein Preferred Names Protein Names

POU domain, class 3, transcription factor 1

  • OTF-6

Related Diseases

Diseases Alias
Pyriform Sinus Cancer
  • Malignant Neoplasm Of Pyriform Fossa

  • Malignant Neoplasm Of The Pyriform Fossa

  • Malignant Tumor Of Pyriform Fossa

Scrotum Squamous Cell Carcinoma
  • Squamous Cell Carcinoma Of Scrotum

  • Scrotal Squamous Cell Carcinoma

Scrotal Carcinoma
  • Carcinoma Of Scrotum

  • Malignant Neoplasm Of Scrotum

  • Neoplasm Of Scrotum

Lymphocele
  • Lymph Cyst

  • Lymphocele Adverse Event

Scrotum Neoplasm
  • Malignant Tumour Of Scrotum

  • Malignant Scrotal Neoplasm

  • Malignant Tumor Of Scrotum

  • Neoplasm Of Scrotum

  • Scrotal Ca

  • Scrotal Tumor

  • Scrotum Cancer

  • Cancer Of Scrotum

  • Malignant Neoplasm Of Scrotum

  • Scrotal Cancer

  • Malignant Scrotal Tumour

  • Malignant Neoplasm Of Skin Of Scrotum

  • Primary Malignant Neoplasm Of Scrotum

Schizophreniform Disorder
  • Schizophreniform Disorders

  • Psychotic Disorders

Neurogenic Bowel
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
  • Pcwh Syndrome

  • PCWH

  • Neurologic Waardenburg-Shah Syndrome

  • Waardenburg-Shah Syndrome, Neurologic Variant

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

  • Ws4 Plus

  • Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

  • Waardenburg-Shah Syndrome Neurologic Variant

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

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
Macaca mulatta POU3F1 VGNC VGNC:100045
Mus musculus POU3F1 MGD MGI:101896
Rattus norvegicus POU3F1 RGD RGD:619767
Canis familiaris POU3F1 VGNC VGNC:44829
Bos taurus POU3F1 VGNC VGNC:33176
Felis catus POU3F1 VGNC VGNC:107603
Others POU3F1 NCBI