Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Polyhomeotic-like protein 1

Gene

PHC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri791 – 825FCS-typePROSITE-ProRule annotationAdd BLAST35

GO - Molecular functioni

GO - Biological processi

  • histone ubiquitination Source: UniProtKB
  • multicellular organism development Source: UniProtKB-KW
  • protein sumoylation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111752-MONOMER.
ZFISH:ENSG00000179899-MONOMER.
ReactomeiR-HSA-2559580. Oxidative Stress Induced Senescence.
R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
R-HSA-4570464. SUMOylation of RNA binding proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
Polyhomeotic-like protein 1
Short name:
hPH1
Alternative name(s):
Early development regulatory protein 1
Gene namesi
Name:PHC1
Synonyms:EDR1, PH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:3182. PHC1.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • PcG protein complex Source: UniProtKB
  • PRC1 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 11, primary, autosomal recessive (MCPH11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
See also OMIM:615414
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070566992L → F in MCPH11; significant reduction in mutant protein levels which is shown to result from proteasome-mediated degradation; patient cells show increased expression of GMNN and decreased interaction between the protein and ubiquitinated HIST1H2AM compared to control cells. 1 PublicationCorresponds to variant rs587777036dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Primary microcephaly

Organism-specific databases

DisGeNETi1911.
MalaCardsiPHC1.
MIMi615414. phenotype.
OpenTargetsiENSG00000111752.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA27619.

Polymorphism and mutation databases

BioMutaiPHC1.
DMDMi224471881.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000583751 – 1004Polyhomeotic-like protein 1Add BLAST1004

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei645PhosphoserineCombined sources1
Modified residuei898PhosphoserineCombined sources1
Modified residuei922PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP78364.
MaxQBiP78364.
PaxDbiP78364.
PeptideAtlasiP78364.
PRIDEiP78364.

PTM databases

iPTMnetiP78364.
PhosphoSitePlusiP78364.

Expressioni

Gene expression databases

BgeeiENSG00000111752.
CleanExiHS_PHC1.
ExpressionAtlasiP78364. baseline and differential.
GenevisibleiP78364. HS.

Organism-specific databases

HPAiHPA006973.

Interactioni

Subunit structurei

Homodimer. Component of a PRC1-like complex.3 Publications

Protein-protein interaction databases

BioGridi108233. 37 interactors.
DIPiDIP-44567N.
IntActiP78364. 20 interactors.
MINTiMINT-3023129.
STRINGi9606.ENSP00000251757.

Structurei

Secondary structure

11004
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi783 – 785Combined sources3
Helixi789 – 794Combined sources6
Beta strandi796 – 799Combined sources4
Turni801 – 803Combined sources3
Beta strandi806 – 808Combined sources3
Helixi809 – 811Combined sources3
Turni813 – 815Combined sources3
Beta strandi816 – 818Combined sources3
Helixi821 – 827Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L8ENMR-A783-828[»]
ProteinModelPortaliP78364.
SMRiP78364.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini940 – 1004SAMPROSITE-ProRule annotationAdd BLAST65

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi425 – 441Poly-GlnAdd BLAST17

Sequence similaritiesi

Contains 1 FCS-type zinc finger.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri791 – 825FCS-typePROSITE-ProRule annotationAdd BLAST35

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IGCD. Eukaryota.
ENOG4111UWW. LUCA.
GeneTreeiENSGT00550000074459.
HOGENOMiHOG000115526.
HOVERGENiHBG039325.
InParanoidiP78364.
KOiK11456.
OMAiQGTAHVV.
OrthoDBiEOG091G02VS.
PhylomeDBiP78364.
TreeFamiTF331299.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR012313. Znf_FCS.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
PS51024. ZF_FCS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P78364-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
METESEQNSN STNGSSSSGG SSRPQIAQMS LYERQAVQAL QALQRQPNAA
60 70 80 90 100
QYFHQFMLQQ QLSNAQLHSL AAVQQATIAA SRQASSPNTS TTQQQTTTTQ
110 120 130 140 150
ASINLATTSA AQLISRSQSV SSPSATTLTQ SVLLGNTTSP PLNQSQAQMY
160 170 180 190 200
LRPQLGNLLQ VNRTLGRNVP LASQLILMPN GAVAAVQQEV PSAQSPGVHA
210 220 230 240 250
DADQVQNLAV RNQQASAQGP QMQGSTQKAI PPGASPVSSL SQASSQALAV
260 270 280 290 300
AQASSGATNQ SLNLSQAGGG SGNSIPGSMG PGGGGQAHGG LGQLPSSGMG
310 320 330 340 350
GGSCPRKGTG VVQPLPAAQT VTVSQGSQTE AESAAAKKAE ADGSGQQNVG
360 370 380 390 400
MNLTRTATPA PSQTLISSAT YTQIQPHSLI QQQQQIHLQQ KQVVIQQQIA
410 420 430 440 450
IHHQQQFQHR QSQLLHTATH LQLAQQQQQQ QQQQQQQQQP QATTLTAPQP
460 470 480 490 500
PQVPPTQQVP PSQSQQQAQT LVVQPMLQSS PLSLPPDAAP KPPIPIQSKP
510 520 530 540 550
PVAPIKPPQL GAAKMSAAQQ PPPHIPVQVV GTRQPGTAQA QALGLAQLAA
560 570 580 590 600
AVPTSRGMPG TVQSGQAHLA SSPPSSQAPG ALQECPPTLA PGMTLAPVQG
610 620 630 640 650
TAHVVKGGAT TSSPVVAQVP AAFYMQSVHL PGKPQTLAVK RKADSEEERD
660 670 680 690 700
DVSTLGSMLP AKASPVAESP KVMDEKSSLG EKAESVANVN ANTPSSELVA
710 720 730 740 750
LTPAPSVPPP TLAMVSRQMG DSKPPQAIVK PQILTHIIEG FVIQEGAEPF
760 770 780 790 800
PVGCSQLLKE SEKPLQTGLP TGLTENQSGG PLGVDSPSAE LDKKANLLKC
810 820 830 840 850
EYCGKYAPAE QFRGSKRFCS MTCAKRYNVS CSHQFRLKRK KMKEFQEANY
860 870 880 890 900
ARVRRRGPRR SSSDIARAKI QGKCHRGQED SSRGSDNSSY DEALSPTSPG
910 920 930 940 950
PLSVRAGHGE RDLGNPNTAP PTPELHGINP VFLSSNPSRW SVEEVYEFIA
960 970 980 990 1000
SLQGCQEIAE EFRSQEIDGQ ALLLLKEEHL MSAMNIKLGP ALKICAKINV

LKET
Length:1,004
Mass (Da):105,534
Last modified:March 3, 2009 - v3
Checksum:iD53764F80931A938
GO

Sequence cautioni

The sequence AAH17748 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165 – 167LGR → PGS in AAC51169 (PubMed:9121482).Curated3
Sequence conflicti568 – 569HL → LK in AAC51169 (PubMed:9121482).Curated2
Sequence conflicti613S → T in AAC51169 (PubMed:9121482).Curated1
Sequence conflicti752V → G in AAC51169 (PubMed:9121482).Curated1
Sequence conflicti782L → F in AAC51169 (PubMed:9121482).Curated1
Sequence conflicti972L → F in AAC51169 (PubMed:9121482).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054503693T → A.2 PublicationsCorresponds to variant rs1049925dbSNPEnsembl.1
Natural variantiVAR_070566992L → F in MCPH11; significant reduction in mutant protein levels which is shown to result from proteasome-mediated degradation; patient cells show increased expression of GMNN and decreased interaction between the protein and ubiquitinated HIST1H2AM compared to control cells. 1 PublicationCorresponds to variant rs587777036dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U89277 mRNA. Translation: AAC51169.1.
AC006581 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88600.1.
CH471116 Genomic DNA. Translation: EAW88601.1.
BC002871 mRNA. Translation: AAH02871.2.
BC017748 mRNA. Translation: AAH17748.1. Different initiation.
CCDSiCCDS8597.1.
RefSeqiNP_004417.2. NM_004426.2.
UniGeneiHs.744902.

Genome annotation databases

EnsembliENST00000543824; ENSP00000440674; ENSG00000111752.
ENST00000544916; ENSP00000437659; ENSG00000111752.
GeneIDi1911.
KEGGihsa:1911.
UCSCiuc001qvd.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U89277 mRNA. Translation: AAC51169.1.
AC006581 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88600.1.
CH471116 Genomic DNA. Translation: EAW88601.1.
BC002871 mRNA. Translation: AAH02871.2.
BC017748 mRNA. Translation: AAH17748.1. Different initiation.
CCDSiCCDS8597.1.
RefSeqiNP_004417.2. NM_004426.2.
UniGeneiHs.744902.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L8ENMR-A783-828[»]
ProteinModelPortaliP78364.
SMRiP78364.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108233. 37 interactors.
DIPiDIP-44567N.
IntActiP78364. 20 interactors.
MINTiMINT-3023129.
STRINGi9606.ENSP00000251757.

PTM databases

iPTMnetiP78364.
PhosphoSitePlusiP78364.

Polymorphism and mutation databases

BioMutaiPHC1.
DMDMi224471881.

Proteomic databases

EPDiP78364.
MaxQBiP78364.
PaxDbiP78364.
PeptideAtlasiP78364.
PRIDEiP78364.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000543824; ENSP00000440674; ENSG00000111752.
ENST00000544916; ENSP00000437659; ENSG00000111752.
GeneIDi1911.
KEGGihsa:1911.
UCSCiuc001qvd.4. human.

Organism-specific databases

CTDi1911.
DisGeNETi1911.
GeneCardsiPHC1.
HGNCiHGNC:3182. PHC1.
HPAiHPA006973.
MalaCardsiPHC1.
MIMi602978. gene.
615414. phenotype.
neXtProtiNX_P78364.
OpenTargetsiENSG00000111752.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA27619.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGCD. Eukaryota.
ENOG4111UWW. LUCA.
GeneTreeiENSGT00550000074459.
HOGENOMiHOG000115526.
HOVERGENiHBG039325.
InParanoidiP78364.
KOiK11456.
OMAiQGTAHVV.
OrthoDBiEOG091G02VS.
PhylomeDBiP78364.
TreeFamiTF331299.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111752-MONOMER.
ZFISH:ENSG00000179899-MONOMER.
ReactomeiR-HSA-2559580. Oxidative Stress Induced Senescence.
R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
R-HSA-4570464. SUMOylation of RNA binding proteins.

Miscellaneous databases

ChiTaRSiPHC1. human.
GeneWikiiPHC1.
GenomeRNAii1911.
PROiP78364.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111752.
CleanExiHS_PHC1.
ExpressionAtlasiP78364. baseline and differential.
GenevisibleiP78364. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR012313. Znf_FCS.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
PS51024. ZF_FCS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPHC1_HUMAN
AccessioniPrimary (citable) accession number: P78364
Secondary accession number(s): D3DUV4, Q8WVM3, Q9BU63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: March 3, 2009
Last modified: November 30, 2016
This is version 158 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.