PMF1 - polyamine modulated factor 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11243

About PMF1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,213,007-156,240,042 (from NCBI)

This gene has 6 transcripts (splice variants) and 134 orthologues. Ubiquitous expression in bone marrow (RPKM 21.9), thyroid (RPKM 21.3) and 25 other tissues.

Summary

Enables leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of MIS12/MIND type complex. Implicated in bladder carcinoma and urinary bladder Cancer. [provided by Alliance of Genome Resources, Apr 2022]

PMF1 Products (10)

mRNA Protein Name
NM_001199653.2 NP_001186582.1 polyamine-modulated factor 1 isoform 3
NM_001199654.2 NP_001186583.1 polyamine-modulated factor 1 isoform 1
NM_001393909.1 NP_001380838.1 polyamine-modulated factor 1 isoform 4
NM_001393910.1 NP_001380839.1 polyamine-modulated factor 1 isoform 5
NM_001393911.1 NP_001380840.1 polyamine-modulated factor 1 isoform 6
NM_001393912.1 NP_001380841.1 polyamine-modulated factor 1 isoform 7
NM_001393913.1 NP_001380842.1 polyamine-modulated factor 1 isoform 8
NM_001393914.1 NP_001380843.1 polyamine-modulated factor 1 isoform 9
NM_001393915.1 NP_001380844.1 polyamine-modulated factor 1 isoform 10
NM_007221.4 NP_009152.2 polyamine-modulated factor 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables leucine zipper domain binding IPI
IPI: Inferred from physical interaction
11256947 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15371340 GOA
enables transcription coactivator activity IMP
IMP: Inferred from mutant phenotype
11256947 GOA
Biological Process GO Annotation Evidence References Source
involved in chromosome segregation IMP
IMP: Inferred from mutant phenotype
15502821 GOA
Cellular Component GO Annotation Evidence References Source
part of MIS12/MIND type complex IDA
IDA: Inferred from direct assay
16585270 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
15371340 GOA
part of outer kinetochore IDA
IDA: Inferred from direct assay
24530301 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

PMF1 Protein Structure

Nnf1

Nnf1: Nnf1 (70 - 172)

  • 0
  • 100
  • 205 a.a.
Protein Preferred Names Protein Names

polyamine-modulated factor 1

  • Est1p-like protein B (EST1B)

Related Diseases

Diseases Alias
Phototoxic Dermatitis
  • Dermatitis, Phototoxic

  • Photosensitisation Reaction

  • Photosensitive Dermatitis

  • Photosensitiveness

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
  • Cadasil

  • Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

  • Casil

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

  • Familial Vascular Leukoencephalopathy

  • CADASIL1

  • Cadasil 1

  • Hereditary Multi-Infarct Dementia

  • Cadasil Syndrome

  • Dementia, Hereditary Multiinfarct Type

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

  • Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

  • Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

  • Dementia, Hereditary Multi-Infarct Type

  • Hereditary Dementia, Multi-Infarct Type

  • Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

  • Dementia Hereditary Multiinfarct Type

  • Dementia Hereditary Multi-Infarct Type

  • Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Bladder Cancer
  • Urinary Bladder Cancer

  • Bladder Carcinoma

  • Urinary Bladder Carcinoma

  • Bladder Neoplasm

  • Bladder Tumor

  • Cancer, Bladder

  • Malignant Neoplasm Of Urinary Bladder

  • Carcinoma Of Bladder

  • Bladder Cancer, Somatic

  • Tumor Of The Bladder

  • Carcinoma Of Urinary Bladder

  • Bladder Carcinoma Urinary

  • Cancer Of The Urinary Bladder

  • Cancer, Urinary Bladder

  • Malignant Bladder Neoplasm

  • Malignant Bladder Tumor

  • Neoplasm Of The Bladder

  • Neoplasm Of The Urinary Bladder

  • Tumor Of The Urinary Bladder

  • Urinary Bladder Neoplasm

  • BLC

  • Urothelial Carcinoma Of The Bladder

  • Bladder Tumors

  • Urinary Bladder Neoplasms

  • Bladder Cancer Nos

  • Vesical Cancer Nos

  • Malignant Neoplasm Of Bladder, Part Unspecified

  • Malignant Tumour Of Urinary Bladder

  • Primary Malignant Neoplasm Of Bladder

Plasmodium Malariae Malaria
  • Quartan Malaria

  • Malaria By Plasmodium Malariae

  • Nephrotic Syndrome Of Quartan Malaria

  • Malaria Nephrosis

  • Malarial Nephrosis

  • Nephrotic Syndrome In Malaria

  • Quartan Nephrosis

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
Rattus norvegicus PMF1 RGD RGD:1584694
Mus musculus PMF1 MGD MGI:1914287
Others PMF1 NCBI