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Protein

Patched domain-containing protein 4

Gene

PTCHD4

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

Functioni

Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 4
Alternative name(s):
p53-regulated patched protein
Gene namesi
Name:PTCHD4
Synonyms:C6orf138, PTCH53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21345. PTCHD4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Transmembranei293 – 313HelicalSequence analysisAdd BLAST21
Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Transmembranei465 – 485HelicalSequence analysisAdd BLAST21
Transmembranei660 – 680HelicalSequence analysisAdd BLAST21
Transmembranei686 – 706HelicalSequence analysisAdd BLAST21
Transmembranei718 – 738HelicalSequence analysisAdd BLAST21
Transmembranei765 – 785HelicalSequence analysisAdd BLAST21
Transmembranei787 – 807HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000244694.
PharmGKBiPA134982541.

Polymorphism and mutation databases

BioMutaiPTCHD4.
DMDMi269849699.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003206401 – 846Patched domain-containing protein 4Add BLAST846

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi762N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6ZW05.
PeptideAtlasiQ6ZW05.
PRIDEiQ6ZW05.

PTM databases

iPTMnetiQ6ZW05.
PhosphoSitePlusiQ6ZW05.

Expressioni

Inductioni

Induced by TP53.1 Publication

Gene expression databases

BgeeiENSG00000244694.
CleanExiHS_C6orf138.
ExpressionAtlasiQ6ZW05. baseline and differential.
GenevisibleiQ6ZW05. HS.

Organism-specific databases

HPAiHPA041276.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000341914.

Structurei

3D structure databases

ProteinModelPortaliQ6ZW05.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini233 – 392SSDPROSITE-ProRule annotationAdd BLAST160

Sequence similaritiesi

Belongs to the patched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1934. Eukaryota.
ENOG410XRZ4. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ6ZW05.
OMAiWIWWRML.
OrthoDBiEOG091G0D98.
PhylomeDBiQ6ZW05.
TreeFamiTF331806.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZW05-1) [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
MCFLRRPGAP ASWIWWRMLR QVLRRGLQSF CHRLGLCVSR HPVFFLTVPA
60 70 80 90 100
VLTITFGLSA LNRFQPEGDL ERLVAPSHSL AKIERSLASS LFPLDQSKSQ
110 120 130 140 150
LYSDLHTPGR YGRVILLSPT GDNILLQAEG ILQTHRAVLE MKDGRNSFIG
160 170 180 190 200
HQLGGVVEVP NSKDQRVKSA RAIQITYYLQ TYGSATQDLI GEKWENEFCK
210 220 230 240 250
LIRKLQEEHQ ELQLYSLASF SLWRDFHKTS ILARSKVLVS LVLILTTATL
260 270 280 290 300
SSSMKDCLRS KPFLGLLGVL TVCISIITAA GIFFITDGKY NSTLLGIPFF
310 320 330 340 350
AMGHGTKGVF ELLSGWRRTK ENLPFKDRIA DAYSDVMVTY TMTSSLYFIT
360 370 380 390 400
FGMGASPFTN IEAVKVFCQN MCVSILLNYF YIFSFFGSCL VFAGQLEQNR
410 420 430 440 450
YHSIFCCKIP SAEYLDRKPV WFQTVMSDGH QQTSHHETNP YQHHFIQHFL
460 470 480 490 500
REHYNEWITN IYVKPFVVIL YLIYASFSFM GCLQISDGAN IINLLASDSP
510 520 530 540 550
SVSYAMVQQK YFSNYSPVIG FYVYEPLEYW NSSVQDDLRR LCSGFTAVSW
560 570 580 590 600
VEQYYQFLKV SNVSANNKSD FISVLQSSFL KKPEFQHFRN DIIFSKAGDE
610 620 630 640 650
SNIIASRLYL VARTSRDKQK EITEVLEKLR PLSLSKSIRF IVFNPSFVFM
660 670 680 690 700
DHYSLSVTVP VLIAGFGVLL VLILTFFLVI HPLGNFWLIL SVTSIELGVL
710 720 730 740 750
GLMTLWNVDM DCISILCLIY TLNFAIDHCA PLLFTFVLAT EHTRTQCIKS
760 770 780 790 800
SLQDHGTAIL QNVTSFLIGL VPLLFVPSNL TFTLFKCLLL TGGCTLLHCF
810 820 830 840
VILPVFLTFF PPSKKHHKKK KRAKRKEREE IECIEIQENP DHVTTV
Length:846
Mass (Da):96,371
Last modified:November 24, 2009 - v3
Checksum:i2B82D1EB3519F0C6
GO
Isoform 2 (identifier: Q6ZW05-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
     304-311: HGTKGVFE → ISTEFTSS
     312-846: Missing.

Note: No experimental confirmation available.
Show »
Length:294
Mass (Da):32,736
Checksum:i1437DC62AEB1F7FD
GO
Isoform 3 (identifier: Q6ZW05-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MCFL → M

Show »
Length:843
Mass (Da):96,008
Checksum:i01DD0898EACD8377
GO
Isoform 4 (identifier: Q6ZW05-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-253: Missing.

Note: No experimental confirmation available.
Show »
Length:593
Mass (Da):67,728
Checksum:i11599098D868BEE9
GO

Sequence cautioni

The sequence AAI37360 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI37365 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC85703 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence BAC85703 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI20456 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAX04325 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti466F → L in BAG62081 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0584271 – 253Missing in isoform 4. Add BLAST253
Alternative sequenceiVSP_0566231 – 17Missing in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0584281 – 4MCFL → M in isoform 3. 4
Alternative sequenceiVSP_056624304 – 311HGTKGVFE → ISTEFTSS in isoform 2. 1 Publication8
Alternative sequenceiVSP_056625312 – 846Missing in isoform 2. 1 PublicationAdd BLAST535

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123835 mRNA. Translation: BAC85703.1. Sequence problems.
AK299301 mRNA. Translation: BAG61315.1.
AK300335 mRNA. Translation: BAG62081.1.
KJ534581 mRNA. Translation: AIY68042.1.
AL161622 Genomic DNA. Translation: CAI20456.1. Sequence problems.
AL139336 Genomic DNA. No translation available.
AL121973 Genomic DNA. No translation available.
AL353138 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX04325.1. Sequence problems.
BC136779 mRNA. Translation: AAI36780.1.
BC137359 mRNA. Translation: AAI37360.1. Different initiation.
BC137364 mRNA. Translation: AAI37365.1. Different initiation.
CCDSiCCDS34473.2. [Q6ZW05-1]
RefSeqiNP_001013754.3. NM_001013732.3. [Q6ZW05-1]
NP_997382.2. NM_207499.2.
XP_011512941.1. XM_011514639.2. [Q6ZW05-4]
XP_016866382.1. XM_017010893.1. [Q6ZW05-3]
UniGeneiHs.659409.

Genome annotation databases

EnsembliENST00000339488; ENSP00000341914; ENSG00000244694. [Q6ZW05-1]
GeneIDi442213.
KEGGihsa:442213.
UCSCiuc011dwm.2. human. [Q6ZW05-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123835 mRNA. Translation: BAC85703.1. Sequence problems.
AK299301 mRNA. Translation: BAG61315.1.
AK300335 mRNA. Translation: BAG62081.1.
KJ534581 mRNA. Translation: AIY68042.1.
AL161622 Genomic DNA. Translation: CAI20456.1. Sequence problems.
AL139336 Genomic DNA. No translation available.
AL121973 Genomic DNA. No translation available.
AL353138 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX04325.1. Sequence problems.
BC136779 mRNA. Translation: AAI36780.1.
BC137359 mRNA. Translation: AAI37360.1. Different initiation.
BC137364 mRNA. Translation: AAI37365.1. Different initiation.
CCDSiCCDS34473.2. [Q6ZW05-1]
RefSeqiNP_001013754.3. NM_001013732.3. [Q6ZW05-1]
NP_997382.2. NM_207499.2.
XP_011512941.1. XM_011514639.2. [Q6ZW05-4]
XP_016866382.1. XM_017010893.1. [Q6ZW05-3]
UniGeneiHs.659409.

3D structure databases

ProteinModelPortaliQ6ZW05.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000341914.

PTM databases

iPTMnetiQ6ZW05.
PhosphoSitePlusiQ6ZW05.

Polymorphism and mutation databases

BioMutaiPTCHD4.
DMDMi269849699.

Proteomic databases

PaxDbiQ6ZW05.
PeptideAtlasiQ6ZW05.
PRIDEiQ6ZW05.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339488; ENSP00000341914; ENSG00000244694. [Q6ZW05-1]
GeneIDi442213.
KEGGihsa:442213.
UCSCiuc011dwm.2. human. [Q6ZW05-1]

Organism-specific databases

CTDi442213.
GeneCardsiPTCHD4.
HGNCiHGNC:21345. PTCHD4.
HPAiHPA041276.
MIMi616908. gene.
neXtProtiNX_Q6ZW05.
OpenTargetsiENSG00000244694.
PharmGKBiPA134982541.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1934. Eukaryota.
ENOG410XRZ4. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ6ZW05.
OMAiWIWWRML.
OrthoDBiEOG091G0D98.
PhylomeDBiQ6ZW05.
TreeFamiTF331806.

Miscellaneous databases

GenomeRNAii442213.
PROiQ6ZW05.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000244694.
CleanExiHS_C6orf138.
ExpressionAtlasiQ6ZW05. baseline and differential.
GenevisibleiQ6ZW05. HS.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPTHD4_HUMAN
AccessioniPrimary (citable) accession number: Q6ZW05
Secondary accession number(s): A0A0A7EN49
, B0QZ29, B2RPC0, B4DRK3, B4DTR9, Q5T884
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 24, 2009
Last modified: November 2, 2016
This is version 84 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.