UniProtKB - Q9UMS5 (PHTF1_HUMAN)
Protein
Protein PHTF1
Gene
PHTF1
Organism
Homo sapiens (Human)
Status
Functioni
Caution
The PHTF domain was initially defined as an atypical homeodomain, suggesting that this protein could act as a transcription regulator (PubMed:10395808). However, the protein is not found in the nucleus and mainly localizes in the endoplasmic reticulum membrane, suggesting that it does not act as a transcription factor (By similarity).1 PublicationBy similarity
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
Enzyme and pathway databases
PathwayCommonsi | Q9UMS5 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein PHTF1Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000116793.15 |
HGNCi | HGNC:8939, PHTF1 |
MIMi | 604950, gene |
neXtProti | NX_Q9UMS5 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein Sequence analysis
Golgi apparatus
- cis-Golgi network membrane By similarity; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
Golgi apparatus
- cis-Golgi network Source: Ensembl
Nucleus
- nucleus Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 77 – 97 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 99 – 119 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 121 – 141 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 473 – 493 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 512 – 532 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 611 – 631 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 645 – 665 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 737 – 757 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 10745 |
OpenTargetsi | ENSG00000116793 |
PharmGKBi | PA33278 |
Miscellaneous databases
Pharosi | Q9UMS5, Tdark |
Polymorphism and mutation databases
BioMutai | PHTF1 |
DMDMi | 71152973 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127423 | 1 – 762 | Protein PHTF1Add BLAST | 762 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 179 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 180 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 272 | PhosphoserineBy similarity | 1 | |
Modified residuei | 276 | PhosphoserineBy similarity | 1 | |
Modified residuei | 277 | PhosphoserineBy similarity | 1 | |
Modified residuei | 334 | PhosphoserineBy similarity | 1 | |
Modified residuei | 336 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 363 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 431 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 674 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 733 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q9UMS5 |
MassIVEi | Q9UMS5 |
PaxDbi | Q9UMS5 |
PeptideAtlasi | Q9UMS5 |
PRIDEi | Q9UMS5 |
ProteomicsDBi | 85208 [Q9UMS5-1] 85209 [Q9UMS5-2] |
PTM databases
iPTMneti | Q9UMS5 |
PhosphoSitePlusi | Q9UMS5 |
Expressioni
Tissue specificityi
Widely expressed with highest levels in testis.1 Publication
Gene expression databases
Bgeei | ENSG00000116793, Expressed in cerebellar hemisphere and 182 other tissues |
ExpressionAtlasi | Q9UMS5, baseline and differential |
Genevisiblei | Q9UMS5, HS |
Organism-specific databases
HPAi | ENSG00000116793, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with FEM1B.
By similarityProtein-protein interaction databases
BioGRIDi | 115968, 6 interactors |
IntActi | Q9UMS5, 5 interactors |
MINTi | Q9UMS5 |
STRINGi | 9606.ENSP00000358617 |
Miscellaneous databases
RNActi | Q9UMS5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 6 – 150 | PHTFSequence analysisAdd BLAST | 145 |
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QQGQ, Eukaryota |
GeneTreei | ENSGT00390000011648 |
InParanoidi | Q9UMS5 |
OMAi | EAQTQMM |
OrthoDBi | 710715at2759 |
PhylomeDBi | Q9UMS5 |
TreeFami | TF323570 |
Family and domain databases
InterProi | View protein in InterPro IPR039775, PHTF1/2 IPR021980, TF_homeodomain_male |
PANTHERi | PTHR12680, PTHR12680, 1 hit |
Pfami | View protein in Pfam PF12129, Phtf-FEM1B_bdg, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5TCQ5 | Q5TCQ5_HUMAN | Putative homeodomain transcription ... | PHTF1 | 717 | Annotation score: | ||
Q5TCQ3 | Q5TCQ3_HUMAN | Putative homeodomain transcription ... | PHTF1 | 709 | Annotation score: | ||
F6T5D1 | F6T5D1_HUMAN | Putative homeodomain transcription ... | PHTF1 | 105 | Annotation score: | ||
H0Y825 | H0Y825_HUMAN | Putative homeodomain transcription ... | PHTF1 | 331 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 245 | W → C in CAB51572 (PubMed:10395808).Curated | 1 | |
Sequence conflicti | 251 | A → P in CAB51572 (PubMed:10395808).Curated | 1 | |
Sequence conflicti | 518 | C → G in CAB51572 (PubMed:10395808).Curated | 1 | |
Sequence conflicti | 529 | L → W in CAB51572 (PubMed:10395808).Curated | 1 | |
Sequence conflicti | 638 | F → S in CAB51572 (PubMed:10395808).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002144 | 632 – 637 | LQGHKT → KVSHLL in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_002145 | 638 – 762 | Missing in isoform 2. 1 PublicationAdd BLAST | 125 |
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 |
CCDSi | CCDS81359.1 [Q9UMS5-2] CCDS861.1 [Q9UMS5-1] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000357783; ENSP00000350428; ENSG00000116793 [Q9UMS5-2] ENST00000369604; ENSP00000358617; ENSG00000116793 [Q9UMS5-1] ENST00000393357; ENSP00000377025; ENSG00000116793 [Q9UMS5-1] |
GeneIDi | 10745 |
KEGGi | hsa:10745 |
UCSCi | uc001edn.4, human [Q9UMS5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS81359.1 [Q9UMS5-2] CCDS861.1 [Q9UMS5-1] |
RefSeqi | NP_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] |
3D structure databases
SMRi | Q9UMS5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115968, 6 interactors |
IntActi | Q9UMS5, 5 interactors |
MINTi | Q9UMS5 |
STRINGi | 9606.ENSP00000358617 |
PTM databases
iPTMneti | Q9UMS5 |
PhosphoSitePlusi | Q9UMS5 |
Polymorphism and mutation databases
BioMutai | PHTF1 |
DMDMi | 71152973 |
Proteomic databases
EPDi | Q9UMS5 |
MassIVEi | Q9UMS5 |
PaxDbi | Q9UMS5 |
PeptideAtlasi | Q9UMS5 |
PRIDEi | Q9UMS5 |
ProteomicsDBi | 85208 [Q9UMS5-1] 85209 [Q9UMS5-2] |
Protocols and materials databases
Antibodypediai | 20143, 28 antibodies |
Genome annotation databases
Ensembli | ENST00000357783; ENSP00000350428; ENSG00000116793 [Q9UMS5-2] ENST00000369604; ENSP00000358617; ENSG00000116793 [Q9UMS5-1] ENST00000393357; ENSP00000377025; ENSG00000116793 [Q9UMS5-1] |
GeneIDi | 10745 |
KEGGi | hsa:10745 |
UCSCi | uc001edn.4, human [Q9UMS5-1] |
Organism-specific databases
CTDi | 10745 |
DisGeNETi | 10745 |
EuPathDBi | HostDB:ENSG00000116793.15 |
GeneCardsi | PHTF1 |
HGNCi | HGNC:8939, PHTF1 |
HPAi | ENSG00000116793, Low tissue specificity |
MIMi | 604950, gene |
neXtProti | NX_Q9UMS5 |
OpenTargetsi | ENSG00000116793 |
PharmGKBi | PA33278 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQGQ, Eukaryota |
GeneTreei | ENSGT00390000011648 |
InParanoidi | Q9UMS5 |
OMAi | EAQTQMM |
OrthoDBi | 710715at2759 |
PhylomeDBi | Q9UMS5 |
TreeFami | TF323570 |
Enzyme and pathway databases
PathwayCommonsi | Q9UMS5 |
Miscellaneous databases
BioGRID-ORCSi | 10745, 5 hits in 844 CRISPR screens |
ChiTaRSi | PHTF1, human |
GenomeRNAii | 10745 |
Pharosi | Q9UMS5, Tdark |
PROi | PR:Q9UMS5 |
RNActi | Q9UMS5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116793, Expressed in cerebellar hemisphere and 182 other tissues |
ExpressionAtlasi | Q9UMS5, baseline and differential |
Genevisiblei | Q9UMS5, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039775, PHTF1/2 IPR021980, TF_homeodomain_male |
PANTHERi | PTHR12680, PTHR12680, 1 hit |
Pfami | View protein in Pfam PF12129, Phtf-FEM1B_bdg, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PHTF1_HUMAN | |
Accessioni | Q9UMS5Primary (citable) accession number: Q9UMS5 Secondary accession number(s): Q5VWP7 Q9H1X8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | July 19, 2005 | |
Last modified: | December 2, 2020 | |
This is version 154 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM