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Protein

Patched domain-containing protein 3

Gene

PTCHD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 - Biological processi

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

Enzyme and pathway databases

BioCyciZFISH:G66-31924-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:24776. PTCHD3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21
Transmembranei447 – 467HelicalSequence analysisAdd BLAST21
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21
Transmembranei520 – 540HelicalSequence analysisAdd BLAST21
Transmembranei603 – 623HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000182077.
ENSG00000276595.
PharmGKBiPA142671117.

Polymorphism and mutation databases

BioMutaiPTCHD3.
DMDMi425906063.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003092621 – 767Patched domain-containing protein 3Add BLAST767

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi275N-linked (GlcNAc...)Sequence analysis1
Glycosylationi279N-linked (GlcNAc...)Sequence analysis1
Glycosylationi678N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ3KNS1.
PeptideAtlasiQ3KNS1.
PRIDEiQ3KNS1.

PTM databases

iPTMnetiQ3KNS1.
PhosphoSitePlusiQ3KNS1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000182077.
CleanExiHS_PTCHD3.
ExpressionAtlasiQ3KNS1. baseline and differential.

Organism-specific databases

HPAiHPA044613.

Interactioni

Protein-protein interaction databases

IntActiQ3KNS1. 1 interactor.
STRINGi9606.ENSP00000417658.

Structurei

3D structure databases

ProteinModelPortaliQ3KNS1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini383 – 540SSDPROSITE-ProRule annotationAdd BLAST158

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.
HOGENOMiHOG000115764.
HOVERGENiHBG082604.
InParanoidiQ3KNS1.
OMAiQACIEDF.
OrthoDBiEOG091G01KV.
PhylomeDBiQ3KNS1.
TreeFamiTF331806.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
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 differs from that shown. Reason: Erroneous termination at position 768. Translated as stop.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti404R → G in BAC86399 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036918126T → A.Corresponds to variant rs12098477dbSNPEnsembl.1
Natural variantiVAR_036919152L → P.1 PublicationCorresponds to variant rs6482626dbSNPEnsembl.1
Natural variantiVAR_036920224A → G.Corresponds to variant rs12098562dbSNPEnsembl.1
Natural variantiVAR_036921372R → K.Corresponds to variant rs2152099dbSNPEnsembl.1
Natural variantiVAR_036922407C → G.Corresponds to variant rs2484180dbSNPEnsembl.1
Natural variantiVAR_036923473D → G.1 PublicationCorresponds to variant rs2429485dbSNPEnsembl.1
Natural variantiVAR_036924521M → T.1 PublicationCorresponds to variant rs2505327dbSNPEnsembl.1
Natural variantiVAR_036925584I → M.2 PublicationsCorresponds to variant rs1638630dbSNPEnsembl.1

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.3. human.

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.
CCDSiCCDS31173.1.
RefSeqiNP_001030014.2. NM_001034842.3.
UniGeneiHs.631832.

3D structure databases

ProteinModelPortaliQ3KNS1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ3KNS1. 1 interactor.
STRINGi9606.ENSP00000417658.

PTM databases

iPTMnetiQ3KNS1.
PhosphoSitePlusiQ3KNS1.

Polymorphism and mutation databases

BioMutaiPTCHD3.
DMDMi425906063.

Proteomic databases

PaxDbiQ3KNS1.
PeptideAtlasiQ3KNS1.
PRIDEiQ3KNS1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000438700; ENSP00000417658; ENSG00000182077.
ENST00000617711; ENSP00000484143; ENSG00000276595.
GeneIDi374308.
KEGGihsa:374308.
UCSCiuc001itu.3. human.

Organism-specific databases

CTDi374308.
GeneCardsiPTCHD3.
H-InvDBHIX0008737.
HIX0026004.
HGNCiHGNC:24776. PTCHD3.
HPAiHPA044613.
MIMi611791. gene.
neXtProtiNX_Q3KNS1.
OpenTargetsiENSG00000182077.
ENSG00000276595.
PharmGKBiPA142671117.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1934. Eukaryota.
ENOG410XRZ4. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000115764.
HOVERGENiHBG082604.
InParanoidiQ3KNS1.
OMAiQACIEDF.
OrthoDBiEOG091G01KV.
PhylomeDBiQ3KNS1.
TreeFamiTF331806.

Enzyme and pathway databases

BioCyciZFISH:G66-31924-MONOMER.

Miscellaneous databases

GenomeRNAii374308.
PROiQ3KNS1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182077.
CleanExiHS_PTCHD3.
ExpressionAtlasiQ3KNS1. baseline and differential.

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 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: 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 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

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.