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Protein

Jhy protein homolog

Gene

JHY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.By similarity

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Jhy protein homolog
Gene namesi
Name:JHYImported
Synonyms:C11orf63
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000109944.10
HGNCiHGNC:26288 JHY
MIMi617594 gene
neXtProtiNX_Q6NUN7

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000109944
PharmGKBiPA143485358

Polymorphism and mutation databases

DMDMi74736827

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002807641 – 778Jhy protein homologAdd BLAST778

Proteomic databases

PaxDbiQ6NUN7
PeptideAtlasiQ6NUN7
PRIDEiQ6NUN7
ProteomicsDBi66694
66695 [Q6NUN7-2]

PTM databases

iPTMnetiQ6NUN7
PhosphoSitePlusiQ6NUN7

Expressioni

Gene expression databases

BgeeiENSG00000109944 Expressed in 138 organ(s), highest expression level in testis
CleanExiHS_C11orf63
GenevisibleiQ6NUN7 HS

Organism-specific databases

HPAiHPA039612
HPA040344
HPA077658
HPA077748

Interactioni

Protein-protein interaction databases

BioGridi122952, 4 interactors
IntActiQ6NUN7, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliQ6NUN7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IH42 Eukaryota
ENOG410XX5X LUCA
GeneTreeiENSGT00390000002823
HOGENOMiHOG000013118
HOVERGENiHBG081220
InParanoidiQ6NUN7
OMAiTQIMEQH
OrthoDBiEOG091G10O9
PhylomeDBiQ6NUN7
TreeFamiTF335473

Family and domain databases

InterProiView protein in InterPro
IPR027968 JHY
PfamiView protein in Pfam
PF15261 DUF4591, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6NUN7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSKRKLIPKL SIQSPVLHTN LNVQSTHPPL KKEDLHRISK DSLESDSESL
60 70 80 90 100
TQEIMCHSEF DDRIRGNGME PDSLDEEESP RWGSLHEMEE EASGKAAQMA
110 120 130 140 150
REQNHHTWDQ GANNRQQPIE DKYSDLRYDP NWKSKKEEGQ LLSVEALPES
160 170 180 190 200
TDSSLENLPL APLYPSQETS MELSGGKGEQ KESPQSAASL LGSEFLSPNY
210 220 230 240 250
EHGARRSKPF SELSDSDLEE KSSSLSPYVK SSSSHNEVFL PGSRGPRRRK
260 270 280 290 300
SKQHFVEKNK LTLGLPTPKT DSYLQLHNKK RGESHPEQIS YPVRVTDKTS
310 320 330 340 350
IQNAKEMENA AIDPEDKWHQ RAQQLKNYQE HWSQYESTKS SNVPRGQPSD
360 370 380 390 400
MVNDHQPSRR PAKLKIRKQC KHQNGLKSST TEEVTASQGN QNNPPRQQQN
410 420 430 440 450
QNKPLDTSTK PESIVIMHAS NNDVQASRAL RSHNLKETSN TFAPPKQAFD
460 470 480 490 500
KVLSKNSTGC DSGLNVNKER GHKDQEEKRF SYQQLHTLSD MDLNNLNELS
510 520 530 540 550
KRHVLLSQKG SQFVYHINTH GSTKNKKQLK QPYTETKYRN LEMLWKFHSS
560 570 580 590 600
SDSQTVRASP DSWLTQIMEQ HQQALVQLTD VQPSEGALSS VTLPPILSRV
610 620 630 640 650
ESESQLSSER SQRNQVKISR SNSEGYLFQL EKGKKHKKRS SSKNTKLKGY
660 670 680 690 700
QKRDVKLGGL GPDFESIRDK TQKLIQQKEY AKQVKEYNMK TLSILSKPQT
710 720 730 740 750
EKTQKKSAIP RQKALEYAKT IPKPKPSNLT HQASKEQKNP TYAGKEESLP
760 770
EISLLEILQN RHEREKQAVA AFKVLHIV
Length:778
Mass (Da):88,569
Last modified:July 5, 2004 - v1
Checksum:i200CB1C2263524FE
GO
Isoform 2 (identifier: Q6NUN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     289-307: ISYPVRVTDKTSIQNAKEM → VILRVNSLPRDGFKTFWSQ
     308-778: Missing.

Show »
Length:307
Mass (Da):34,771
Checksum:iE0C6DEC1BED8F070
GO

Sequence cautioni

The sequence AAH09820 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15691 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti295V → A in BAB15691 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050863486H → R. Corresponds to variant dbSNP:rs33999612Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023915289 – 307ISYPV…NAKEM → VILRVNSLPRDGFKTFWSQ in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_023916308 – 778Missing in isoform 2. 1 PublicationAdd BLAST471

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027207 mRNA Translation: BAB15691.1 Different initiation.
AK291625 mRNA Translation: BAF84314.1
CH471065 Genomic DNA Translation: EAW67533.1
BC009820 mRNA Translation: AAH09820.2 Different initiation.
BC068507 mRNA Translation: AAH68507.1
CCDSiCCDS8438.1 [Q6NUN7-1]
CCDS8439.1 [Q6NUN7-2]
RefSeqiNP_079082.2, NM_024806.3 [Q6NUN7-1]
NP_954575.1, NM_199124.2 [Q6NUN7-2]
XP_005271737.1, XM_005271680.4 [Q6NUN7-1]
XP_011541311.1, XM_011543009.2 [Q6NUN7-1]
UniGeneiHs.164705

Genome annotation databases

EnsembliENST00000227349; ENSP00000227349; ENSG00000109944 [Q6NUN7-1]
ENST00000307257; ENSP00000307695; ENSG00000109944 [Q6NUN7-2]
ENST00000531316; ENSP00000431669; ENSG00000109944 [Q6NUN7-1]
GeneIDi79864
KEGGihsa:79864
UCSCiuc001pyl.3 human [Q6NUN7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiJHY_HUMAN
AccessioniPrimary (citable) accession number: Q6NUN7
Secondary accession number(s): A8K6G0, Q96GB5, Q9H5D6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 101 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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