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Protein

Putative homeodomain transcription factor 1

Gene

PHTF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in transcription regulation.

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Putative homeodomain transcription factor 1
Gene namesi
Name:PHTF1
Synonyms:PHTF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:8939. PHTF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33278.

Polymorphism and mutation databases

BioMutaiPHTF1.
DMDMi71152973.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 762762Putative homeodomain transcription factor 1PRO_0000127423Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei272 – 2721PhosphoserineBy similarity
Modified residuei276 – 2761PhosphoserineBy similarity
Modified residuei277 – 2771PhosphoserineBy similarity
Modified residuei334 – 3341PhosphoserineBy similarity
Modified residuei336 – 3361PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UMS5.
PaxDbiQ9UMS5.
PRIDEiQ9UMS5.

PTM databases

iPTMnetiQ9UMS5.
PhosphoSiteiQ9UMS5.

Expressioni

Tissue specificityi

Widely expressed with highest levels in testis.1 Publication

Gene expression databases

BgeeiQ9UMS5.
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. 4 interactions.
STRINGi9606.ENSP00000358617.

Structurei

3D structure databases

ProteinModelPortaliQ9UMS5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IF1F. Eukaryota.
ENOG410ZM0V. LUCA.
GeneTreeiENSGT00390000011648.
HOGENOMiHOG000030907.
HOVERGENiHBG061164.
InParanoidiQ9UMS5.
OMAiGEAQTQM.
PhylomeDBiQ9UMS5.
TreeFamiTF323570.

Family and domain databases

InterProiIPR021980. TF_homeodomain_male.
[Graphical view]
PfamiPF12129. Phtf-FEM1B_bdg. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti245 – 2451W → C in CAB51572 (PubMed:10395808).Curated
Sequence conflicti251 – 2511A → P in CAB51572 (PubMed:10395808).Curated
Sequence conflicti518 – 5181C → G in CAB51572 (PubMed:10395808).Curated
Sequence conflicti529 – 5291L → W in CAB51572 (PubMed:10395808).Curated
Sequence conflicti638 – 6381F → S in CAB51572 (PubMed:10395808).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei632 – 6376LQGHKT → KVSHLL in isoform 2. 1 PublicationVSP_002144
Alternative sequencei638 – 762125Missing in isoform 2. 1 PublicationVSP_002145Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011863 mRNA. Translation: CAB51572.1.
AL365321, AL133517 Genomic DNA. Translation: CAH72504.1.
AL133517, AL365321 Genomic DNA. Translation: CAI22549.1.
AL365321, AL133517 Genomic DNA. Translation: CAH72503.1.
AL133517, AL365321 Genomic DNA. Translation: CAI22547.1.
BC002447 mRNA. Translation: AAH02447.1.
CCDSiCCDS861.1. [Q9UMS5-1]
RefSeqiNP_006599.2. NM_006608.2. [Q9UMS5-1]
XP_005270440.1. XM_005270383.3. [Q9UMS5-1]
XP_005270441.1. XM_005270384.3. [Q9UMS5-1]
XP_011538833.1. XM_011540531.1. [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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011863 mRNA. Translation: CAB51572.1.
AL365321, AL133517 Genomic DNA. Translation: CAH72504.1.
AL133517, AL365321 Genomic DNA. Translation: CAI22549.1.
AL365321, AL133517 Genomic DNA. Translation: CAH72503.1.
AL133517, AL365321 Genomic DNA. Translation: CAI22547.1.
BC002447 mRNA. Translation: AAH02447.1.
CCDSiCCDS861.1. [Q9UMS5-1]
RefSeqiNP_006599.2. NM_006608.2. [Q9UMS5-1]
XP_005270440.1. XM_005270383.3. [Q9UMS5-1]
XP_005270441.1. XM_005270384.3. [Q9UMS5-1]
XP_011538833.1. XM_011540531.1. [Q9UMS5-1]
UniGeneiHs.655824.

3D structure databases

ProteinModelPortaliQ9UMS5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115968. 4 interactions.
STRINGi9606.ENSP00000358617.

PTM databases

iPTMnetiQ9UMS5.
PhosphoSiteiQ9UMS5.

Polymorphism and mutation databases

BioMutaiPHTF1.
DMDMi71152973.

Proteomic databases

EPDiQ9UMS5.
PaxDbiQ9UMS5.
PRIDEiQ9UMS5.

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.
GeneCardsiPHTF1.
HGNCiHGNC:8939. PHTF1.
HPAiHPA059486.
MIMi604950. gene.
neXtProtiNX_Q9UMS5.
PharmGKBiPA33278.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF1F. Eukaryota.
ENOG410ZM0V. LUCA.
GeneTreeiENSGT00390000011648.
HOGENOMiHOG000030907.
HOVERGENiHBG061164.
InParanoidiQ9UMS5.
OMAiGEAQTQM.
PhylomeDBiQ9UMS5.
TreeFamiTF323570.

Miscellaneous databases

GenomeRNAii10745.
NextBioi40801.
PROiQ9UMS5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UMS5.
CleanExiHS_PHTF1.
ExpressionAtlasiQ9UMS5. baseline and differential.
GenevisibleiQ9UMS5. HS.

Family and domain databases

InterProiIPR021980. TF_homeodomain_male.
[Graphical view]
PfamiPF12129. Phtf-FEM1B_bdg. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "PHTF, a novel atypical homeobox gene on chromosome 1p13, is evolutionarily conserved."
    Raich N., Mattei M.-G., Romeo P.-H., Beaupain D.
    Genomics 59:108-109(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Erythroleukemia.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Skin.
  4. "Molecular characterization of a novel gene family (PHTF) conserved from Drosophila to mammals."
    Manuel A., Beaupain D., Romeo P.-H., Raich N.
    Genomics 64:216-220(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiPHTF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMS5
Secondary accession number(s): Q5VWP7
, Q5VWP8, Q9BUP2, Q9H1X8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: July 19, 2005
Last modified: March 16, 2016
This is version 123 of the entry and version 2 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

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

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.