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Q3KNS1 (PTHD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 3
Alternative name(s):
Patched-related protein
Gene names
Name:PTCHD3
Synonyms:PTR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length767 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in sperm development or sperm function. Ref.4

Subcellular location

Membrane; Multi-pass membrane protein Potential. Note: Localizes to the midpiece of the sperm tail. Ref.4

Tissue specificity

Expressed in germ cells of the testis (at protein level). Ref.4

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Sequence caution

The sequence BAC86399.1 differs from that shown. Reason: Erroneous termination at position 768. Translated as stop.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processspermatid development

Non-traceable author statement Ref.4. Source: UniProtKB

   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 – 767767Patched domain-containing protein 3
PRO_0000309262

Regions

Transmembrane139 – 15921Helical; Potential
Transmembrane297 – 31721Helical; Potential
Transmembrane383 – 40321Helical; Potential
Transmembrane423 – 44321Helical; Potential
Transmembrane447 – 46721Helical; Potential
Transmembrane486 – 50621Helical; Potential
Transmembrane520 – 54021Helical; Potential
Transmembrane603 – 62321Helical; Potential
Domain383 – 540158SSD

Amino acid modifications

Glycosylation2751N-linked (GlcNAc...) Potential
Glycosylation2791N-linked (GlcNAc...) Potential
Glycosylation6781N-linked (GlcNAc...) Potential

Natural variations

Natural variant1261T → A.
Corresponds to variant rs12098477 [ dbSNP | Ensembl ].
VAR_036918
Natural variant1521L → P. Ref.3
Corresponds to variant rs6482626 [ dbSNP | Ensembl ].
VAR_036919
Natural variant2241A → G.
Corresponds to variant rs12098562 [ dbSNP | Ensembl ].
VAR_036920
Natural variant3721R → K.
Corresponds to variant rs2152099 [ dbSNP | Ensembl ].
VAR_036921
Natural variant4071C → G.
Corresponds to variant rs2484180 [ dbSNP | Ensembl ].
VAR_036922
Natural variant4731D → G. Ref.1
Corresponds to variant rs2429485 [ dbSNP | Ensembl ].
VAR_036923
Natural variant5211M → T. Ref.1
Corresponds to variant rs2505327 [ dbSNP | Ensembl ].
VAR_036924
Natural variant5841I → M. Ref.1 Ref.3
Corresponds to variant rs1638630 [ dbSNP | Ensembl ].
VAR_036925

Experimental info

Sequence conflict4041R → G in BAC86399. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q3KNS1 [UniParc].

Last modified November 28, 2012. Version 3.
Checksum: B9D6612E1A6B8623

FASTA76786,872
        10         20         30         40         50         60 
MPWVEPKPRP GPEQKPKLTK PDSATGPQWY QESQESESEG KQPPPGPLAP PKSPEPSGPL 

        70         80         90        100        110        120 
ASEQDAPLPE GDDAPPRPSM LDDAPRLPLE LDDAPLPEEE TPEPTAICRH RHRCHTDCLE 

       130        140        150        160        170        180 
GLLSRTFQWL GWQVGAHPWI FLLAPLMLTA ALGTGFLYLP KDEEEDLEEH YTPVGSPAKA 

       190        200        210        220        230        240 
ERRFVQGHFT TNDSYRFSAS RRSTEANFVS LLVVSYSDSL LDPATFAEVS KLDGAVQDLR 

       250        260        270        280        290        300 
VAREKGSQIQ YQQVCARYRA LCVPPNPILY AWQVNKTLNL SSISFPAYNH GRHPLYLTGF 

       310        320        330        340        350        360 
FGGYILGGSL GMGQLLLRAK AMRLLYYLKT EDPEYDVQSK QWLTHLLDQF TNIKNILALK 

       370        380        390        400        410        420 
KIEVVHFTSL SRQLEFEATS VTVIPVFHLA YILIILFAVT SCFRFDCIRN KMCVAAFGVI 

       430        440        450        460        470        480 
SAFLAVVSGF GLLLHIGVPF VIIVANSPFL ILGVGVDDMF IMISAWHKTN LADDIRERMS 

       490        500        510        520        530        540 
NVYSKAAVSI TITTITNILA LYTGIMSSFR SVQCFCIYTG MTLLFCYFYN ITCFGAFMAL 

       550        560        570        580        590        600 
DGKREVVCLC WLKKADPKWP SFKKFCCFPF GSVPDEHGTD IHPISLFFRD YFGPFLTRSE 

       610        620        630        640        650        660 
SKYFVVFIYV LYIISSIYGC FHVQEGLDLR NLASDDSYIT PYFNVEENYF SDYGPRVMVI 

       670        680        690        700        710        720 
VTKKVDYWDK DVRQKLENCT KIFEKNVYVD KNLTEFWLDA YVQYLKGNSQ DPNEKNTFMN 

       730        740        750        760 
NIPDFLSNFP NFQHDINISS SNEIISSRGF IQTTDVSSSA KKKILLF 

« Hide

References

« Hide 'large scale' references
[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. 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], VARIANTS GLY-473; THR-521 AND MET-584.
Tissue: Testis.
[2]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [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], VARIANTS PRO-152 AND MET-584.
[4]"Male germ cell-specific expression of a novel patched-domain containing gene Ptchd3."
Fan J., Akabane H., Zheng X., Zhou X., Zhang L., Liu Q., Zhang Y.-L., Yang J., Zhu G.-Z.
Biochem. Biophys. Res. Commun. 363:757-761(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK126025 mRNA. Translation: BAC86399.1. Sequence problems.
AL355493 Genomic DNA. No translation available.
BC107139 mRNA. Translation: AAI07140.1.
CCDSCCDS31173.1.
RefSeqNP_001030014.2. NM_001034842.3.
UniGeneHs.631832.

3D structure databases

ProteinModelPortalQ3KNS1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131890. 1 interaction.
IntActQ3KNS1. 1 interaction.

PTM databases

PhosphoSiteQ3KNS1.

Polymorphism databases

DMDM425906063.

Proteomic databases

PaxDbQ3KNS1.
PRIDEQ3KNS1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000438700; ENSP00000417658; ENSG00000182077.
ENST00000570930; ENSP00000461096; ENSG00000262672.
GeneID374308.
KEGGhsa:374308.
UCSCuc001itu.2. human.

Organism-specific databases

CTD374308.
GeneCardsGC10M027728.
H-InvDBHIX0008737.
HIX0026004.
HGNCHGNC:24776. PTCHD3.
HPAHPA044613.
MIM611791. gene.
neXtProtNX_Q3KNS1.
PharmGKBPA142671117.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149152.
HOGENOMHOG000115764.
HOVERGENHBG082604.
InParanoidQ3KNS1.
OMATFIMISA.
OrthoDBEOG7QK0B6.
PhylomeDBQ3KNS1.
TreeFamTF331806.

Gene expression databases

BgeeQ3KNS1.
CleanExHS_PTCHD3.
GenevestigatorQ3KNS1.

Family and domain databases

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

Other

GenomeRNAi374308.
NextBio100150.
PROQ3KNS1.
SOURCESearch...

Entry information

Entry namePTHD3_HUMAN
AccessionPrimary (citable) accession number: Q3KNS1
Secondary accession number(s): I3L499, Q6ZU28
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 28, 2012
Last modified: July 9, 2014
This is version 67 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM