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Q3KNS1

- PTHD3_HUMAN

UniProt

Q3KNS1 - PTHD3_HUMAN

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Protein

Patched domain-containing protein 3

Gene

PTCHD3

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

Functioni

May play a role in sperm development or sperm function.1 Publication

GO - Molecular functioni

  1. hedgehog receptor activity Source: InterPro

GO - Biological processi

  1. spermatid development Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 3
Alternative name(s):
Patched-related protein
Gene namesi
Name:PTCHD3
Synonyms:PTR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10, UP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:24776. PTCHD3.

Subcellular locationi

Membrane Curated; Multi-pass membrane protein Curated
Note: Localizes to the midpiece of the sperm tail.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei139 – 15921HelicalSequence AnalysisAdd
BLAST
Transmembranei297 – 31721HelicalSequence AnalysisAdd
BLAST
Transmembranei383 – 40321HelicalSequence AnalysisAdd
BLAST
Transmembranei423 – 44321HelicalSequence AnalysisAdd
BLAST
Transmembranei447 – 46721HelicalSequence AnalysisAdd
BLAST
Transmembranei486 – 50621HelicalSequence AnalysisAdd
BLAST
Transmembranei520 – 54021HelicalSequence AnalysisAdd
BLAST
Transmembranei603 – 62321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. sperm midpiece Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671117.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 767767Patched domain-containing protein 3PRO_0000309262Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi275 – 2751N-linked (GlcNAc...)Sequence Analysis
Glycosylationi279 – 2791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi678 – 6781N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ3KNS1.
PRIDEiQ3KNS1.

PTM databases

PhosphoSiteiQ3KNS1.

Expressioni

Tissue specificityi

Expressed in germ cells of the testis (at protein level).1 Publication

Gene expression databases

BgeeiQ3KNS1.
CleanExiHS_PTCHD3.
ExpressionAtlasiQ3KNS1. baseline.
GenevestigatoriQ3KNS1.

Organism-specific databases

HPAiHPA044613.

Interactioni

Protein-protein interaction databases

BioGridi131890. 1 interaction.
IntActiQ3KNS1. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ3KNS1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini383 – 540158SSDPROSITE-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

eggNOGiNOG149152.
GeneTreeiENSGT00760000119174.
HOGENOMiHOG000115764.
HOVERGENiHBG082604.
InParanoidiQ3KNS1.
OMAiTFIMISA.
OrthoDBiEOG7QK0B6.
PhylomeDBiQ3KNS1.
TreeFamiTF331806.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q3KNS1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPWVEPKPRP GPEQKPKLTK PDSATGPQWY QESQESESEG KQPPPGPLAP
60 70 80 90 100
PKSPEPSGPL ASEQDAPLPE GDDAPPRPSM LDDAPRLPLE LDDAPLPEEE
110 120 130 140 150
TPEPTAICRH RHRCHTDCLE GLLSRTFQWL GWQVGAHPWI FLLAPLMLTA
160 170 180 190 200
ALGTGFLYLP KDEEEDLEEH YTPVGSPAKA ERRFVQGHFT TNDSYRFSAS
210 220 230 240 250
RRSTEANFVS LLVVSYSDSL LDPATFAEVS KLDGAVQDLR VAREKGSQIQ
260 270 280 290 300
YQQVCARYRA LCVPPNPILY AWQVNKTLNL SSISFPAYNH GRHPLYLTGF
310 320 330 340 350
FGGYILGGSL GMGQLLLRAK AMRLLYYLKT EDPEYDVQSK QWLTHLLDQF
360 370 380 390 400
TNIKNILALK KIEVVHFTSL SRQLEFEATS VTVIPVFHLA YILIILFAVT
410 420 430 440 450
SCFRFDCIRN KMCVAAFGVI SAFLAVVSGF GLLLHIGVPF VIIVANSPFL
460 470 480 490 500
ILGVGVDDMF IMISAWHKTN LADDIRERMS NVYSKAAVSI TITTITNILA
510 520 530 540 550
LYTGIMSSFR SVQCFCIYTG MTLLFCYFYN ITCFGAFMAL DGKREVVCLC
560 570 580 590 600
WLKKADPKWP SFKKFCCFPF GSVPDEHGTD IHPISLFFRD YFGPFLTRSE
610 620 630 640 650
SKYFVVFIYV LYIISSIYGC FHVQEGLDLR NLASDDSYIT PYFNVEENYF
660 670 680 690 700
SDYGPRVMVI VTKKVDYWDK DVRQKLENCT KIFEKNVYVD KNLTEFWLDA
710 720 730 740 750
YVQYLKGNSQ DPNEKNTFMN NIPDFLSNFP NFQHDINISS SNEIISSRGF
760
IQTTDVSSSA KKKILLF
Length:767
Mass (Da):86,872
Last modified:November 28, 2012 - v3
Checksum:iB9D6612E1A6B8623
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti404 – 4041R → G in BAC86399. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261T → A.
Corresponds to variant rs12098477 [ dbSNP | Ensembl ].
VAR_036918
Natural varianti152 – 1521L → P.1 Publication
Corresponds to variant rs6482626 [ dbSNP | Ensembl ].
VAR_036919
Natural varianti224 – 2241A → G.
Corresponds to variant rs12098562 [ dbSNP | Ensembl ].
VAR_036920
Natural varianti372 – 3721R → K.
Corresponds to variant rs2152099 [ dbSNP | Ensembl ].
VAR_036921
Natural varianti407 – 4071C → G.
Corresponds to variant rs2484180 [ dbSNP | Ensembl ].
VAR_036922
Natural varianti473 – 4731D → G.1 Publication
Corresponds to variant rs2429485 [ dbSNP | Ensembl ].
VAR_036923
Natural varianti521 – 5211M → T.1 Publication
Corresponds to variant rs2505327 [ dbSNP | Ensembl ].
VAR_036924
Natural varianti584 – 5841I → M.2 Publications
Corresponds to variant rs1638630 [ dbSNP | Ensembl ].
VAR_036925

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126025 mRNA. Translation: BAC86399.1. Sequence problems.
AL355493 Genomic DNA. No translation available.
BC107139 mRNA. Translation: AAI07140.1.
CCDSiCCDS31173.1.
RefSeqiNP_001030014.2. NM_001034842.3.
UniGeneiHs.631832.

Genome annotation databases

EnsembliENST00000438700; ENSP00000417658; ENSG00000182077.
ENST00000617711; ENSP00000484143; ENSG00000276595.
GeneIDi374308.
KEGGihsa:374308.
UCSCiuc001itu.2. human.

Polymorphism databases

DMDMi425906063.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126025 mRNA. Translation: BAC86399.1 . Sequence problems.
AL355493 Genomic DNA. No translation available.
BC107139 mRNA. Translation: AAI07140.1 .
CCDSi CCDS31173.1.
RefSeqi NP_001030014.2. NM_001034842.3.
UniGenei Hs.631832.

3D structure databases

ProteinModelPortali Q3KNS1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131890. 1 interaction.
IntActi Q3KNS1. 1 interaction.

PTM databases

PhosphoSitei Q3KNS1.

Polymorphism databases

DMDMi 425906063.

Proteomic databases

PaxDbi Q3KNS1.
PRIDEi Q3KNS1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000438700 ; ENSP00000417658 ; ENSG00000182077 .
ENST00000617711 ; ENSP00000484143 ; ENSG00000276595 .
GeneIDi 374308.
KEGGi hsa:374308.
UCSCi uc001itu.2. human.

Organism-specific databases

CTDi 374308.
GeneCardsi GC10M027728.
H-InvDB HIX0008737.
HIX0026004.
HGNCi HGNC:24776. PTCHD3.
HPAi HPA044613.
MIMi 611791. gene.
neXtProti NX_Q3KNS1.
PharmGKBi PA142671117.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149152.
GeneTreei ENSGT00760000119174.
HOGENOMi HOG000115764.
HOVERGENi HBG082604.
InParanoidi Q3KNS1.
OMAi TFIMISA.
OrthoDBi EOG7QK0B6.
PhylomeDBi Q3KNS1.
TreeFami TF331806.

Miscellaneous databases

GenomeRNAii 374308.
NextBioi 100150.
PROi Q3KNS1.
SOURCEi Search...

Gene expression databases

Bgeei Q3KNS1.
CleanExi HS_PTCHD3.
ExpressionAtlasi Q3KNS1. baseline.
Genevestigatori Q3KNS1.

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

« Hide 'large scale' publications
  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], 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.
    , 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.

Entry informationi

Entry nameiPTHD3_HUMAN
AccessioniPrimary (citable) accession number: Q3KNS1
Secondary accession number(s): I3L499, Q6ZU28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 28, 2012
Last modified: October 29, 2014
This is version 69 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3