UniProtKB - Q9NQM4 (PIHD3_HUMAN)
Protein
Protein PIH1D3
Gene
PIH1D3
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in cytoplasmic pre-assembly of axonemal dynein.1 Publication
GO - Molecular functioni
- chaperone binding Source: UniProtKB
GO - Biological processi
- axonemal dynein complex assembly Source: UniProtKB
- cilium movement Source: UniProtKB
- flagellated sperm motility Source: UniProtKB
Names & Taxonomyi
Protein namesi | Recommended name: Protein PIH1D3Alternative name(s): PIH1 domain-containing protein 3 Sarcoma antigen NY-SAR-97 |
Gene namesi | Name:PIH1D3 Synonyms:CXorf41 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28570 PIH1D3 |
MIMi | 300933 gene |
neXtProti | NX_Q9NQM4 |
Subcellular locationi
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 36, X-linked (CILD36)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078066 | 119 – 214 | Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST | 96 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 139212 |
MalaCardsi | PIH1D3 |
MIMi | 300991 phenotype |
OpenTargetsi | ENSG00000080572 |
Orphaneti | 244 Primary ciliary dyskinesia |
PharmGKBi | PA134882142 |
Miscellaneous databases
Pharosi | Q9NQM4 |
Polymorphism and mutation databases
BioMutai | PIH1D3 |
DMDMi | 71153251 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079736 | 1 – 214 | Protein PIH1D3Add BLAST | 214 |
Proteomic databases
PaxDbi | Q9NQM4 |
PeptideAtlasi | Q9NQM4 |
PRIDEi | Q9NQM4 |
ProteomicsDBi | 82164 |
PTM databases
iPTMneti | Q9NQM4 |
PhosphoSitePlusi | Q9NQM4 |
Expressioni
Tissue specificityi
Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary.1 Publication
Gene expression databases
Bgeei | ENSG00000080572 Expressed in 37 organ(s), highest expression level in bronchial epithelial cell |
Genevisiblei | Q9NQM4 HS |
Organism-specific databases
HPAi | HPA072496 |
Interactioni
Subunit structurei
Interacts with HSPA1A/B, HSP90AA1 and DNAI2 (By similarity).
Interacts with DNAAF2 and DNAAF4 (PubMed:28041644).
By similarity1 PublicationBinary interactionsi
GO - Molecular functioni
- chaperone binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 126551, 7 interactors |
IntActi | Q9NQM4, 16 interactors |
STRINGi | 9606.ENSP00000441930 |
Family & Domainsi
Sequence similaritiesi
Belongs to the PIH1 family.Curated
Phylogenomic databases
eggNOGi | ENOG410IN3D Eukaryota ENOG4111RQI LUCA |
GeneTreei | ENSGT00390000015219 |
HOGENOMi | HOG000007078 |
InParanoidi | Q9NQM4 |
OMAi | PSSMCCE |
OrthoDBi | 1561656at2759 |
PhylomeDBi | Q9NQM4 |
TreeFami | TF325677 |
Family and domain databases
InterProi | View protein in InterPro IPR041442 PIH1D1/2/3_CS-like IPR026697 PIH1D3 |
PANTHERi | PTHR21083 PTHR21083, 1 hit |
Pfami | View protein in Pfam PF18201 PIH1_CS, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9NQM4-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MESENMDSEN MKTENMESQN VDFESVSSVT ALEALSKLLN PEEEDDSDYG
60 70 80 90 100
QTNGLSTIGA MGPGNIGPPQ IEELKVIPET SEENNEDIWN SEEIPEGAEY
110 120 130 140 150
DDMWDVREIP EYEIIFRQQV GTEDIFLGLS KKDSSTGCCS ELVAKIKLPN
160 170 180 190 200
TNPSDIQIDI QETILDLRTP QKKLLITLPE LVECTSAKAF YIPETETLEI
210
TMTMKRELDI ANFF
Sequence cautioni
The sequence AAO65181 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078066 | 119 – 214 | Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST | 96 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136112 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02716.1 CH471120 Genomic DNA Translation: EAX02717.1 BC033510 mRNA Translation: AAH33510.1 AY211928 mRNA Translation: AAO65181.1 Frameshift. |
CCDSi | CCDS14528.1 |
RefSeqi | NP_001162625.1, NM_001169154.1 NP_775765.1, NM_173494.1 XP_011529157.1, XM_011530855.2 |
Genome annotation databases
Ensembli | ENST00000336387; ENSP00000337757; ENSG00000080572 ENST00000372453; ENSP00000361531; ENSG00000080572 ENST00000535523; ENSP00000441930; ENSG00000080572 |
GeneIDi | 139212 |
KEGGi | hsa:139212 |
UCSCi | uc004enc.3 human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136112 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02716.1 CH471120 Genomic DNA Translation: EAX02717.1 BC033510 mRNA Translation: AAH33510.1 AY211928 mRNA Translation: AAO65181.1 Frameshift. |
CCDSi | CCDS14528.1 |
RefSeqi | NP_001162625.1, NM_001169154.1 NP_775765.1, NM_173494.1 XP_011529157.1, XM_011530855.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 126551, 7 interactors |
IntActi | Q9NQM4, 16 interactors |
STRINGi | 9606.ENSP00000441930 |
PTM databases
iPTMneti | Q9NQM4 |
PhosphoSitePlusi | Q9NQM4 |
Polymorphism and mutation databases
BioMutai | PIH1D3 |
DMDMi | 71153251 |
Proteomic databases
PaxDbi | Q9NQM4 |
PeptideAtlasi | Q9NQM4 |
PRIDEi | Q9NQM4 |
ProteomicsDBi | 82164 |
Protocols and materials databases
DNASUi | 139212 |
Genome annotation databases
Ensembli | ENST00000336387; ENSP00000337757; ENSG00000080572 ENST00000372453; ENSP00000361531; ENSG00000080572 ENST00000535523; ENSP00000441930; ENSG00000080572 |
GeneIDi | 139212 |
KEGGi | hsa:139212 |
UCSCi | uc004enc.3 human |
Organism-specific databases
CTDi | 139212 |
DisGeNETi | 139212 |
GeneCardsi | PIH1D3 |
HGNCi | HGNC:28570 PIH1D3 |
HPAi | HPA072496 |
MalaCardsi | PIH1D3 |
MIMi | 300933 gene 300991 phenotype |
neXtProti | NX_Q9NQM4 |
OpenTargetsi | ENSG00000080572 |
Orphaneti | 244 Primary ciliary dyskinesia |
PharmGKBi | PA134882142 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IN3D Eukaryota ENOG4111RQI LUCA |
GeneTreei | ENSGT00390000015219 |
HOGENOMi | HOG000007078 |
InParanoidi | Q9NQM4 |
OMAi | PSSMCCE |
OrthoDBi | 1561656at2759 |
PhylomeDBi | Q9NQM4 |
TreeFami | TF325677 |
Miscellaneous databases
GenomeRNAii | 139212 |
Pharosi | Q9NQM4 |
PROi | PR:Q9NQM4 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000080572 Expressed in 37 organ(s), highest expression level in bronchial epithelial cell |
Genevisiblei | Q9NQM4 HS |
Family and domain databases
InterProi | View protein in InterPro IPR041442 PIH1D1/2/3_CS-like IPR026697 PIH1D3 |
PANTHERi | PTHR21083 PTHR21083, 1 hit |
Pfami | View protein in Pfam PF18201 PIH1_CS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIHD3_HUMAN | |
Accessioni | Q9NQM4Primary (citable) accession number: Q9NQM4 Secondary accession number(s): D3DUX5, Q86WE1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | October 1, 2000 | |
Last modified: | October 16, 2019 | |
This is version 119 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot