PHF1

Protein-coding gene in the species Homo sapiens
PHF1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2E5P, 2M0O, 4HCZ

Identifiers
AliasesPHF1, MTF2L2, PCL1, PHF2, TDRD19C, hPHD finger protein 1
External IDsOMIM: 602881 MGI: 98647 HomoloGene: 7567 GeneCards: PHF1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for PHF1
Genomic location for PHF1
Band6p21.32Start33,410,399 bp[1]
End33,416,453 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for PHF1
Genomic location for PHF1
Band17 A3.3|17 13.6 cMStart27,152,026 bp[2]
End27,156,882 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pituitary gland

  • anterior pituitary

  • left lobe of thyroid gland

  • right lobe of thyroid gland

  • canal of the cervix

  • gastric mucosa

  • popliteal artery

  • prostate

  • fundus

  • hypothalamus
Top expressed in
  • spermatocyte

  • secondary oocyte

  • spermatid

  • ankle joint

  • seminiferous tubule

  • entorhinal cortex

  • superior frontal gyrus

  • islet of Langerhans

  • cerebellar cortex

  • spleen
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • metal ion binding
  • methylated histone binding
  • protein binding
  • chromatin binding
  • nucleosome binding
  • sequence-specific DNA binding
Cellular component
  • cytoplasm
  • site of double-strand break
  • ESC/E(Z) complex
  • nucleoplasm
  • microtubule organizing center
  • cytoskeleton
  • nucleus
  • centrosome
Biological process
  • negative regulation of histone H3-K27 methylation
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • cellular response to DNA damage stimulus
  • regulation of histone methylation
  • negative regulation of gene expression, epigenetic
  • positive regulation of histone H3-K27 methylation
  • chromatin organization
  • positive regulation of transcription, DNA-templated
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5252

21652

Ensembl

ENSG00000112511
ENSG00000225553
ENSG00000239756

ENSMUSG00000024193

UniProt

O43189

Q9Z1B8

RefSeq (mRNA)

NM_002636
NM_024165

NM_009343
NM_001302397

RefSeq (protein)

NP_002627
NP_077084

NP_001289326
NP_033369

Location (UCSC)Chr 6: 33.41 – 33.42 MbChr 17: 27.15 – 27.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

PHD finger protein 1 is a protein that in humans is encoded by the PHF1 gene.[5][6][7]

Function

This gene encodes a protein with significant sequence similarity to Drosophila Polycomblike. The encoded protein contains a zinc finger-like PHD (plant homeodomain) finger which is distinct from other classes of zinc finger motifs and which shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. Two transcript variants have been found for this gene.[7]

References

  1. ^ a b c ENSG00000225553, ENSG00000239756 GRCh38: Ensembl release 89: ENSG00000112511, ENSG00000225553, ENSG00000239756 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024193 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Coulson M, Robert S, Eyre HJ, Saint R (March 1998). "The identification and localization of a human gene with sequence similarity to Polycomblike of Drosophila melanogaster". Genomics. 48 (3): 381–3. doi:10.1006/geno.1997.5201. PMID 9545646.
  6. ^ Hong Z, Jiang J, Lan L, Nakajima S, Kanno S, Koseki H, Yasui A (May 2008). "A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell". Nucleic Acids Research. 36 (9): 2939–47. doi:10.1093/nar/gkn146. PMC 2396414. PMID 18385154.
  7. ^ a b "Entrez Gene: PHF1 PHD finger protein 1".

Further reading

  • Cao R, Wang H, He J, Erdjument-Bromage H, Tempst P, Zhang Y (March 2008). "Role of hPHF1 in H3K27 methylation and Hox gene silencing". Molecular and Cellular Biology. 28 (5): 1862–72. doi:10.1128/MCB.01589-07. PMC 2258785. PMID 18086877.
  • O'Connell S, Wang L, Robert S, Jones CA, Saint R, Jones RS (November 2001). "Polycomblike PHD fingers mediate conserved interaction with enhancer of zeste protein". The Journal of Biological Chemistry. 276 (46): 43065–73. doi:10.1074/jbc.M104294200. PMID 11571280.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  • v
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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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