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Q6ZW05

- PTHD4_HUMAN

UniProt

Q6ZW05 - PTHD4_HUMAN

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Protein

Patched domain-containing protein 4

Gene

PTCHD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. hedgehog receptor activity Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 4
Gene namesi
Name:PTCHD4
Synonyms:C6orf138
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21345. PTCHD4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121HelicalSequence AnalysisAdd
BLAST
Transmembranei230 – 25021HelicalSequence AnalysisAdd
BLAST
Transmembranei265 – 28521HelicalSequence AnalysisAdd
BLAST
Transmembranei293 – 31321HelicalSequence AnalysisAdd
BLAST
Transmembranei336 – 35621HelicalSequence AnalysisAdd
BLAST
Transmembranei373 – 39321HelicalSequence AnalysisAdd
BLAST
Transmembranei465 – 48521HelicalSequence AnalysisAdd
BLAST
Transmembranei660 – 68021HelicalSequence AnalysisAdd
BLAST
Transmembranei686 – 70621HelicalSequence AnalysisAdd
BLAST
Transmembranei718 – 73821HelicalSequence AnalysisAdd
BLAST
Transmembranei765 – 78521HelicalSequence AnalysisAdd
BLAST
Transmembranei787 – 80721HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134982541.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 846846Patched domain-containing protein 4PRO_0000320640Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi762 – 7621N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6ZW05.
PRIDEiQ6ZW05.

PTM databases

PhosphoSiteiQ6ZW05.

Expressioni

Gene expression databases

BgeeiQ6ZW05.
CleanExiHS_C6orf138.
ExpressionAtlasiQ6ZW05. baseline and differential.
GenevestigatoriQ6ZW05.

Organism-specific databases

HPAiHPA041276.

Structurei

3D structure databases

ProteinModelPortaliQ6ZW05.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini233 – 392160SSDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG242733.
GeneTreeiENSGT00760000119174.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ6ZW05.
OMAiWIWWRML.
OrthoDBiEOG718KCB.
PhylomeDBiQ6ZW05.
TreeFamiTF331806.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence BAC85703.1 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence BAC85703.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI20456.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence EAX04325.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1717Missing in isoform 2. 1 PublicationVSP_056623Add
BLAST
Alternative sequencei304 – 3118HGTKGVFE → ISTEFTSS in isoform 2. 1 PublicationVSP_056624
Alternative sequencei312 – 846535Missing in isoform 2. 1 PublicationVSP_056625Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123835 mRNA. Translation: BAC85703.1. Sequence problems.
AK299301 mRNA. Translation: BAG61315.1.
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.
CCDSiCCDS34473.2. [Q6ZW05-1]
RefSeqiNP_001013754.3. NM_001013732.3. [Q6ZW05-1]
NP_997382.2. NM_207499.2.
UniGeneiHs.659409.

Genome annotation databases

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

Polymorphism databases

DMDMi269849699.

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 .
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 .
CCDSi CCDS34473.2. [Q6ZW05-1 ]
RefSeqi NP_001013754.3. NM_001013732.3. [Q6ZW05-1 ]
NP_997382.2. NM_207499.2.
UniGenei Hs.659409.

3D structure databases

ProteinModelPortali Q6ZW05.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q6ZW05.

Polymorphism databases

DMDMi 269849699.

Proteomic databases

PaxDbi Q6ZW05.
PRIDEi Q6ZW05.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000339488 ; ENSP00000341914 ; ENSG00000244694 . [Q6ZW05-1 ]
GeneIDi 442213.
KEGGi hsa:442213.
UCSCi uc011dwm.2. human. [Q6ZW05-1 ]

Organism-specific databases

CTDi 442213.
GeneCardsi GC06M047845.
HGNCi HGNC:21345. PTCHD4.
HPAi HPA041276.
neXtProti NX_Q6ZW05.
PharmGKBi PA134982541.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG242733.
GeneTreei ENSGT00760000119174.
HOGENOMi HOG000049274.
HOVERGENi HBG080559.
InParanoidi Q6ZW05.
OMAi WIWWRML.
OrthoDBi EOG718KCB.
PhylomeDBi Q6ZW05.
TreeFami TF331806.

Miscellaneous databases

GenomeRNAii 442213.
NextBioi 110853.
PROi Q6ZW05.

Gene expression databases

Bgeei Q6ZW05.
CleanExi HS_C6orf138.
ExpressionAtlasi Q6ZW05. baseline and differential.
Genevestigatori Q6ZW05.

Family and domain databases

InterProi IPR003392. Patched.
IPR000731. SSD.
[Graphical view ]
Pfami PF02460. Patched. 1 hit.
[Graphical view ]
PROSITEi PS50156. SSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "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.
    , 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] (ISOFORM 1).
  2. "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.
    , 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].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Brain.

Entry informationi

Entry nameiPTHD4_HUMAN
AccessioniPrimary (citable) accession number: Q6ZW05
Secondary accession number(s): B0QZ29, B4DRK3, Q5T884
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 24, 2009
Last modified: November 26, 2014
This is version 71 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3