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Protein

Protein PIH1D3

Gene

PIH1D3

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

Functioni

Plays a role in cytoplasmic pre-assembly of axonemal dynein.1 Publication

GO - Molecular functioni

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 PIH1D3
Alternative name(s):
PIH1 domain-containing protein 3
Sarcoma antigen NY-SAR-97
Gene namesi
Name:PIH1D3
Synonyms:CXorf41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000080572.12.
HGNCiHGNC:28570. PIH1D3.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & 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.
See also OMIM:300991
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078066119 – 214Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST96

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi300991. phenotype.
OpenTargetsiENSG00000080572.
PharmGKBiPA134882142.

Polymorphism and mutation databases

BioMutaiPIH1D3.
DMDMi71153251.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000797361 – 214Protein PIH1D3Add BLAST214

Proteomic databases

PaxDbiQ9NQM4.
PeptideAtlasiQ9NQM4.
PRIDEiQ9NQM4.

PTM databases

iPTMnetiQ9NQM4.
PhosphoSitePlusiQ9NQM4.

Expressioni

Tissue specificityi

Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary.1 Publication

Gene expression databases

BgeeiENSG00000080572.
CleanExiHS_CXorf41.
GenevisibleiQ9NQM4. HS.

Organism-specific databases

HPAiHPA051099.

Interactioni

Subunit structurei

Interacts with HSPA1A/B, HSP90AA1 and DNAI2 (By similarity). Interacts with DNAAF2 and DNAAF4 (PubMed:28041644).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126551. 6 interactors.
IntActiQ9NQM4. 16 interactors.
STRINGi9606.ENSP00000337757.

Structurei

3D structure databases

ProteinModelPortaliQ9NQM4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIH1 family.Curated

Phylogenomic databases

eggNOGiENOG410IN3D. Eukaryota.
ENOG4111RQI. LUCA.
GeneTreeiENSGT00390000015219.
HOGENOMiHOG000007078.
HOVERGENiHBG070057.
InParanoidiQ9NQM4.
OMAiESMVVHK.
OrthoDBiEOG091G0LVL.
PhylomeDBiQ9NQM4.
TreeFamiTF325677.

Family and domain databases

Gene3Di2.60.40.790. 1 hit.
InterProiView protein in InterPro
IPR008978. HSP20-like_chaperone.
IPR026697. PIH1D3.
PANTHERiPTHR21083. PTHR21083. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NQM4-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:214
Mass (Da):24,069
Last modified:October 1, 2000 - v1
Checksum:iF86B2E210BBC06F6
GO

Sequence cautioni

The sequence AAO65181 differs from that shown. Reason: Frameshift at position 162.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078066119 – 214Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST96

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.
CCDSiCCDS14528.1.
RefSeqiNP_001162625.1. NM_001169154.1.
NP_775765.1. NM_173494.1.
XP_011529157.1. XM_011530855.2.
UniGeneiHs.128836.

Genome annotation databases

EnsembliENST00000336387; ENSP00000337757; ENSG00000080572.
ENST00000372453; ENSP00000361531; ENSG00000080572.
ENST00000535523; ENSP00000441930; ENSG00000080572.
GeneIDi139212.
KEGGihsa:139212.
UCSCiuc004enc.3. human.

Similar proteinsi

Entry informationi

Entry nameiPIHD3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQM4
Secondary accession number(s): D3DUX5, Q86WE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2000
Last modified: November 22, 2017
This is version 106 of the entry and version 1 of the sequence. See 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 X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families