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Q6ZW05 (PTHD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patched domain-containing protein 4
Gene names
Name:PTCHD4
Synonyms:C6orf138
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length846 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Sequence caution

The sequence BAC85703.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC85703.1 differs from that shown. Reason: Frameshift at several positions.

The sequence CAI20456.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence EAX04325.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentMembrane
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionhedgehog receptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 846846Patched domain-containing protein 4
PRO_0000320640

Regions

Transmembrane41 – 6121Helical; Potential
Transmembrane230 – 25021Helical; Potential
Transmembrane265 – 28521Helical; Potential
Transmembrane293 – 31321Helical; Potential
Transmembrane336 – 35621Helical; Potential
Transmembrane373 – 39321Helical; Potential
Transmembrane465 – 48521Helical; Potential
Transmembrane660 – 68021Helical; Potential
Transmembrane686 – 70621Helical; Potential
Transmembrane718 – 73821Helical; Potential
Transmembrane765 – 78521Helical; Potential
Transmembrane787 – 80721Helical; Potential
Domain233 – 392160SSD

Amino acid modifications

Glycosylation7621N-linked (GlcNAc...) Potential

Sequences

Sequence LengthMass (Da)Tools
Q6ZW05 [UniParc].

Last modified November 24, 2009. Version 3.
Checksum: 2B82D1EB3519F0C6

FASTA84696,371
        10         20         30         40         50         60 
MCFLRRPGAP ASWIWWRMLR QVLRRGLQSF CHRLGLCVSR HPVFFLTVPA VLTITFGLSA 

        70         80         90        100        110        120 
LNRFQPEGDL ERLVAPSHSL AKIERSLASS LFPLDQSKSQ LYSDLHTPGR YGRVILLSPT 

       130        140        150        160        170        180 
GDNILLQAEG ILQTHRAVLE MKDGRNSFIG HQLGGVVEVP NSKDQRVKSA RAIQITYYLQ 

       190        200        210        220        230        240 
TYGSATQDLI GEKWENEFCK LIRKLQEEHQ ELQLYSLASF SLWRDFHKTS ILARSKVLVS 

       250        260        270        280        290        300 
LVLILTTATL SSSMKDCLRS KPFLGLLGVL TVCISIITAA GIFFITDGKY NSTLLGIPFF 

       310        320        330        340        350        360 
AMGHGTKGVF ELLSGWRRTK ENLPFKDRIA DAYSDVMVTY TMTSSLYFIT FGMGASPFTN 

       370        380        390        400        410        420 
IEAVKVFCQN MCVSILLNYF YIFSFFGSCL VFAGQLEQNR YHSIFCCKIP SAEYLDRKPV 

       430        440        450        460        470        480 
WFQTVMSDGH QQTSHHETNP YQHHFIQHFL REHYNEWITN IYVKPFVVIL YLIYASFSFM 

       490        500        510        520        530        540 
GCLQISDGAN IINLLASDSP SVSYAMVQQK YFSNYSPVIG FYVYEPLEYW NSSVQDDLRR 

       550        560        570        580        590        600 
LCSGFTAVSW VEQYYQFLKV SNVSANNKSD FISVLQSSFL KKPEFQHFRN DIIFSKAGDE 

       610        620        630        640        650        660 
SNIIASRLYL VARTSRDKQK EITEVLEKLR PLSLSKSIRF IVFNPSFVFM DHYSLSVTVP 

       670        680        690        700        710        720 
VLIAGFGVLL VLILTFFLVI HPLGNFWLIL SVTSIELGVL GLMTLWNVDM DCISILCLIY 

       730        740        750        760        770        780 
TLNFAIDHCA PLLFTFVLAT EHTRTQCIKS SLQDHGTAIL QNVTSFLIGL VPLLFVPSNL 

       790        800        810        820        830        840 
TFTLFKCLLL TGGCTLLHCF VILPVFLTFF PPSKKHHKKK KRAKRKEREE IECIEIQENP 


DHVTTV 

« Hide

References

[1]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
AK123835 mRNA. Translation: BAC85703.1. Sequence problems.
AK299301 mRNA. Translation: BAG61315.1.
CCDSCCDS34473.2.
RefSeqNP_001013754.3. NM_001013732.3.
NP_997382.2. NM_207499.2.
UniGeneHs.659409.

3D structure databases

ProteinModelPortalQ6ZW05.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ6ZW05.

Polymorphism databases

DMDM269849699.

Proteomic databases

PaxDbQ6ZW05.
PRIDEQ6ZW05.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339488; ENSP00000341914; ENSG00000244694.
GeneID442213.
KEGGhsa:442213.
UCSCuc011dwm.2. human.

Organism-specific databases

CTD442213.
GeneCardsGC06M047845.
HGNCHGNC:21345. PTCHD4.
HPAHPA041276.
neXtProtNX_Q6ZW05.
PharmGKBPA134982541.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242733.
HOGENOMHOG000049274.
HOVERGENHBG080559.
InParanoidQ6ZW05.
OMAWIWWRML.
OrthoDBEOG718KCB.
PhylomeDBQ6ZW05.
TreeFamTF331806.

Gene expression databases

ArrayExpressQ6ZW05.
BgeeQ6ZW05.
CleanExHS_C6orf138.
GenevestigatorQ6ZW05.

Family and domain databases

InterProIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamPF02460. Patched. 1 hit.
[Graphical view]
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi442213.
NextBio110853.
PROQ6ZW05.

Entry information

Entry namePTHD4_HUMAN
AccessionPrimary (citable) accession number: Q6ZW05
Secondary accession number(s): B4DRK3, Q5T884
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 68 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM