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UniProtKB - Q9UMS5 (PHTF1_HUMAN)

Protein

Putative homeodomain transcription factor 1

Gene

PHTF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May play a role in transcription regulation.

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • DNA-binding transcription factor activity Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Putative homeodomain transcription factor 1
Gene namesi
Name:PHTF1
Synonyms:PHTF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116793.15
HGNCiHGNC:8939 PHTF1
MIMi604950 gene
neXtProtiNX_Q9UMS5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10745
OpenTargetsiENSG00000116793
PharmGKBiPA33278

Polymorphism and mutation databases

BioMutaiPHTF1
DMDMi71152973

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274231 – 762Putative homeodomain transcription factor 1Add BLAST762

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei272PhosphoserineBy similarity1
Modified residuei276PhosphoserineBy similarity1
Modified residuei277PhosphoserineBy similarity1
Modified residuei334PhosphoserineBy similarity1
Modified residuei336PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UMS5
PaxDbiQ9UMS5
PeptideAtlasiQ9UMS5
PRIDEiQ9UMS5
ProteomicsDBi85208
85209 [Q9UMS5-2]

PTM databases

iPTMnetiQ9UMS5
PhosphoSitePlusiQ9UMS5

Expressioni

Tissue specificityi

Widely expressed with highest levels in testis.1 Publication

Gene expression databases

BgeeiENSG00000116793 Expressed in 169 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_PHTF1
ExpressionAtlasiQ9UMS5 baseline and differential
GenevisibleiQ9UMS5 HS

Organism-specific databases

HPAiHPA059486

Interactioni

Subunit structurei

Interacts with FEM1B.By similarity

Protein-protein interaction databases

BioGridi115968, 6 interactors
IntActiQ9UMS5, 1 interactor
MINTiQ9UMS5

Structurei

3D structure databases

ProteinModelPortaliQ9UMS5
SMRiQ9UMS5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IF1F Eukaryota
ENOG410ZM0V LUCA
GeneTreeiENSGT00390000011648
HOGENOMiHOG000030907
HOVERGENiHBG061164
InParanoidiQ9UMS5
OMAiGPMCLML
OrthoDBiEOG091G0334
PhylomeDBiQ9UMS5
TreeFamiTF323570

Family and domain databases

InterProiView protein in InterPro
IPR039775 PHTF1/2
IPR021980 TF_homeodomain_male
PANTHERiPTHR12680 PTHR12680, 1 hit
PfamiView protein in Pfam
PF12129 Phtf-FEM1B_bdg, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UMS5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASNERDAIS WYQKKIGAYD QQIWEKSIEQ TQIKGLKNKP KKMGHIKPDL 
        60         70         80         90        100
IDVDLIRGST FAKAKPEIPW TSLTRKGLVR VVFFPLFSNW WIQVTSLRIF 
       110        120        130        140        150
VWLLLLYFMQ VIAIVLYLMM PIVNISEVLG PLCLMLLMGT VHCQIVSTQI 
       160        170        180        190        200
TRPSGNNGNR RRRKLRKTVN GDGSRENGNN SSDKVRGIET LESVPIIGGF 
       210        220        230        240        250
WETIFGNRIK RVKLISNKGT ETDNDPSCVH PIIKRRQCRP EIRMWQTREK 
       260        270        280        290        300
AKFSDGEKCR REAFRRLGNG VSDDLSSEED GEARTQMILL RRSVEGASSD 
       310        320        330        340        350
NGCEVKNRKS ILSRHLNSQV KKTTTRWCHI VRDSDSLAES EFESAAFSQG 
       360        370        380        390        400
SRSGVSGGSR SLNMSRRDSE STRHDSETED MLWDDLLHGP ECRSSVTSDS 
       410        420        430        440        450
EGAHVNTLHS GTKRDPKEDV FQQNHLFWLQ NSSPSSDRVS AIIWEGNECK 
       460        470        480        490        500
KMDMSVLEIS GIIMSRVNAY QQGVGYQMLG NVVTIGLAFF PFLHRLFREK 
       510        520        530        540        550
SLDQLKSISA EEILTLFCGA PPVTPIIVLS IINFFERLCL TWMFFFMMCV 
       560        570        580        590        600
AERTYKQRFL FAKLFSHITS ARKARKYEIP HFRLKKVENI KIWLSLRSYL 
       610        620        630        640        650
KRRGPQRSVD VVVSSVFLLT LSIAFICCAQ VLQGHKTFLN DAYNWEFLIW 
       660        670        680        690        700
ETALLLFLLR LASLGSETNK KYSNVSILLT EQINLYLKME KKPNKKEQLT 
       710        720        730        740        750
LVNNVLKLST KLLKELDTPF RLYGLTMNPL IYNITRVVIL SAVSGVISDL 
       760 
LGFNIRLWKI KS
Length:762
Mass (Da):87,252
Last modified:July 19, 2005 - v2
Checksum:i0813B7A668262DD9
GO
Isoform 2 (identifier: Q9UMS5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     632-637: LQGHKT → KVSHLL
     638-762: Missing.

Note: No experimental confirmation available.
Show »
Length:637
Mass (Da):72,805
Checksum:i0F1280AC492AAC33
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TCQ5Q5TCQ5_HUMAN
Putative homeodomain transcription ...
PHTF1
717Annotation score:
Q5TCQ3Q5TCQ3_HUMAN
Putative homeodomain transcription ...
PHTF1
709Annotation score:
F6T5D1F6T5D1_HUMAN
Putative homeodomain transcription ...
PHTF1
105Annotation score:
H0Y825H0Y825_HUMAN
Putative homeodomain transcription ...
PHTF1
331Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti245W → C in CAB51572 (PubMed:10395808).Curated1
Sequence conflicti251A → P in CAB51572 (PubMed:10395808).Curated1
Sequence conflicti518C → G in CAB51572 (PubMed:10395808).Curated1
Sequence conflicti529L → W in CAB51572 (PubMed:10395808).Curated1
Sequence conflicti638F → S in CAB51572 (PubMed:10395808).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002144632 – 637LQGHKT → KVSHLL in isoform 2. 1 Publication6
Alternative sequenceiVSP_002145638 – 762Missing in isoform 2. 1 PublicationAdd BLAST125

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011863 mRNA Translation: CAB51572.1
AL365321 Genomic DNA No translation available.
AL133517 Genomic DNA No translation available.
BC002447 mRNA Translation: AAH02447.1
CCDSiCCDS81359.1 [Q9UMS5-2]
CCDS861.1 [Q9UMS5-1]
RefSeqiNP_001309970.1, NM_001323041.1 [Q9UMS5-1]
NP_001309971.1, NM_001323042.1 [Q9UMS5-1]
NP_001309972.1, NM_001323043.1 [Q9UMS5-1]
NP_001309976.1, NM_001323047.1 [Q9UMS5-2]
NP_001309977.1, NM_001323048.1 [Q9UMS5-2]
NP_001309978.1, NM_001323049.1 [Q9UMS5-2]
NP_006599.2, NM_006608.2 [Q9UMS5-1]
UniGeneiHs.655824

Genome annotation databases

EnsembliENST00000357783; ENSP00000350428; ENSG00000116793 [Q9UMS5-2]
ENST00000369604; ENSP00000358617; ENSG00000116793 [Q9UMS5-1]
ENST00000393357; ENSP00000377025; ENSG00000116793 [Q9UMS5-1]
GeneIDi10745
KEGGihsa:10745
UCSCiuc001edn.4 human [Q9UMS5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011863 mRNA Translation: CAB51572.1
AL365321 Genomic DNA No translation available.
AL133517 Genomic DNA No translation available.
BC002447 mRNA Translation: AAH02447.1
CCDSiCCDS81359.1 [Q9UMS5-2]
CCDS861.1 [Q9UMS5-1]
RefSeqiNP_001309970.1, NM_001323041.1 [Q9UMS5-1]
NP_001309971.1, NM_001323042.1 [Q9UMS5-1]
NP_001309972.1, NM_001323043.1 [Q9UMS5-1]
NP_001309976.1, NM_001323047.1 [Q9UMS5-2]
NP_001309977.1, NM_001323048.1 [Q9UMS5-2]
NP_001309978.1, NM_001323049.1 [Q9UMS5-2]
NP_006599.2, NM_006608.2 [Q9UMS5-1]
UniGeneiHs.655824

3D structure databases

ProteinModelPortaliQ9UMS5
SMRiQ9UMS5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115968, 6 interactors
IntActiQ9UMS5, 1 interactor
MINTiQ9UMS5

PTM databases

iPTMnetiQ9UMS5
PhosphoSitePlusiQ9UMS5

Polymorphism and mutation databases

BioMutaiPHTF1
DMDMi71152973

Proteomic databases

EPDiQ9UMS5
PaxDbiQ9UMS5
PeptideAtlasiQ9UMS5
PRIDEiQ9UMS5
ProteomicsDBi85208
85209 [Q9UMS5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357783; ENSP00000350428; ENSG00000116793 [Q9UMS5-2]
ENST00000369604; ENSP00000358617; ENSG00000116793 [Q9UMS5-1]
ENST00000393357; ENSP00000377025; ENSG00000116793 [Q9UMS5-1]
GeneIDi10745
KEGGihsa:10745
UCSCiuc001edn.4 human [Q9UMS5-1]

Organism-specific databases

CTDi10745
DisGeNETi10745
EuPathDBiHostDB:ENSG00000116793.15
GeneCardsiPHTF1
HGNCiHGNC:8939 PHTF1
HPAiHPA059486
MIMi604950 gene
neXtProtiNX_Q9UMS5
OpenTargetsiENSG00000116793
PharmGKBiPA33278
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF1F Eukaryota
ENOG410ZM0V LUCA
GeneTreeiENSGT00390000011648
HOGENOMiHOG000030907
HOVERGENiHBG061164
InParanoidiQ9UMS5
OMAiGPMCLML
OrthoDBiEOG091G0334
PhylomeDBiQ9UMS5
TreeFamiTF323570

Miscellaneous databases

ChiTaRSiPHTF1 human
GenomeRNAii10745
PROiPR:Q9UMS5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116793 Expressed in 169 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_PHTF1
ExpressionAtlasiQ9UMS5 baseline and differential
GenevisibleiQ9UMS5 HS

Family and domain databases

InterProiView protein in InterPro
IPR039775 PHTF1/2
IPR021980 TF_homeodomain_male
PANTHERiPTHR12680 PTHR12680, 1 hit
PfamiView protein in Pfam
PF12129 Phtf-FEM1B_bdg, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPHTF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMS5
Secondary accession number(s): Q5VWP7
, Q5VWP8, Q9BUP2, Q9H1X8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: July 19, 2005
Last modified: November 7, 2018
This is version 141 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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