JHY_HUMAN
ID JHY_HUMAN Reviewed; 778 AA.
AC Q6NUN7; A8K6G0; Q96GB5; Q9H5D6;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Jhy protein homolog;
GN Name=JHY {ECO:0000312|HGNC:HGNC:26288}; Synonyms=C11orf63;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 34-778 (ISOFORM 2).
RC TISSUE=Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Required for the normal development of cilia in brain
CC ependymal cells lining the ventricular surfaces.
CC {ECO:0000250|UniProtKB:E9Q793}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6NUN7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NUN7-2; Sequence=VSP_023915, VSP_023916;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH09820.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15691.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK027207; BAB15691.1; ALT_INIT; mRNA.
DR EMBL; AK291625; BAF84314.1; -; mRNA.
DR EMBL; CH471065; EAW67533.1; -; Genomic_DNA.
DR EMBL; BC009820; AAH09820.2; ALT_INIT; mRNA.
DR EMBL; BC068507; AAH68507.1; -; mRNA.
DR CCDS; CCDS8438.1; -. [Q6NUN7-1]
DR CCDS; CCDS8439.1; -. [Q6NUN7-2]
DR RefSeq; NP_079082.2; NM_024806.3. [Q6NUN7-1]
DR RefSeq; NP_954575.1; NM_199124.2. [Q6NUN7-2]
DR RefSeq; XP_005271737.1; XM_005271680.4.
DR RefSeq; XP_011541311.1; XM_011543009.2.
DR AlphaFoldDB; Q6NUN7; -.
DR BioGRID; 122952; 7.
DR IntAct; Q6NUN7; 4.
DR STRING; 9606.ENSP00000227349; -.
DR GlyGen; Q6NUN7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6NUN7; -.
DR PhosphoSitePlus; Q6NUN7; -.
DR BioMuta; C11orf63; -.
DR DMDM; 74736827; -.
DR MassIVE; Q6NUN7; -.
DR PaxDb; Q6NUN7; -.
DR PeptideAtlas; Q6NUN7; -.
DR PRIDE; Q6NUN7; -.
DR ProteomicsDB; 66694; -. [Q6NUN7-1]
DR ProteomicsDB; 66695; -. [Q6NUN7-2]
DR Antibodypedia; 49546; 16 antibodies from 6 providers.
DR DNASU; 79864; -.
DR Ensembl; ENST00000227349.7; ENSP00000227349.2; ENSG00000109944.11. [Q6NUN7-1]
DR Ensembl; ENST00000307257.10; ENSP00000307695.5; ENSG00000109944.11. [Q6NUN7-2]
DR Ensembl; ENST00000531316.1; ENSP00000431669.1; ENSG00000109944.11. [Q6NUN7-1]
DR GeneID; 79864; -.
DR KEGG; hsa:79864; -.
DR MANE-Select; ENST00000227349.7; ENSP00000227349.2; NM_024806.4; NP_079082.2.
DR UCSC; uc001pyl.3; human. [Q6NUN7-1]
DR CTD; 79864; -.
DR DisGeNET; 79864; -.
DR GeneCards; JHY; -.
DR HGNC; HGNC:26288; JHY.
DR HPA; ENSG00000109944; Tissue enhanced (testis).
DR MIM; 617594; gene.
DR neXtProt; NX_Q6NUN7; -.
DR OpenTargets; ENSG00000109944; -.
DR PharmGKB; PA143485358; -.
DR VEuPathDB; HostDB:ENSG00000109944; -.
DR eggNOG; ENOG502S6KC; Eukaryota.
DR GeneTree; ENSGT00390000002823; -.
DR HOGENOM; CLU_407472_0_0_1; -.
DR InParanoid; Q6NUN7; -.
DR OMA; IHQKEYA; -.
DR OrthoDB; 1114555at2759; -.
DR PhylomeDB; Q6NUN7; -.
DR TreeFam; TF335473; -.
DR PathwayCommons; Q6NUN7; -.
DR SignaLink; Q6NUN7; -.
DR BioGRID-ORCS; 79864; 39 hits in 1037 CRISPR screens.
DR ChiTaRS; JHY; human.
DR GenomeRNAi; 79864; -.
DR Pharos; Q6NUN7; Tdark.
DR PRO; PR:Q6NUN7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6NUN7; protein.
DR Bgee; ENSG00000109944; Expressed in bronchial epithelial cell and 154 other tissues.
DR Genevisible; Q6NUN7; HS.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:Ensembl.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0044458; P:motile cilium assembly; IEA:Ensembl.
DR GO; GO:0090175; P:regulation of establishment of planar polarity; IEA:Ensembl.
DR InterPro; IPR027968; JHY.
DR PANTHER; PTHR14726; PTHR14726; 1.
DR Pfam; PF15261; JHY; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cilium biogenesis/degradation; Reference proteome.
FT CHAIN 1..778
FT /note="Jhy protein homolog"
FT /id="PRO_0000280764"
FT REGION 62..271
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 334..408
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 631..654
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 721..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 62..96
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 103..119
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 120..142
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 163..193
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 205..219
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..239
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 334..354
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 373..408
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 632..646
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 725..739
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 289..307
FT /note="ISYPVRVTDKTSIQNAKEM -> VILRVNSLPRDGFKTFWSQ (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023915"
FT VAR_SEQ 308..778
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023916"
FT VARIANT 486
FT /note="H -> R (in dbSNP:rs33999612)"
FT /id="VAR_050863"
FT CONFLICT 295
FT /note="V -> A (in Ref. 1; BAB15691)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 778 AA; 88569 MW; 200CB1C2263524FE CRC64;
MSKRKLIPKL SIQSPVLHTN LNVQSTHPPL KKEDLHRISK DSLESDSESL TQEIMCHSEF
DDRIRGNGME PDSLDEEESP RWGSLHEMEE EASGKAAQMA REQNHHTWDQ GANNRQQPIE
DKYSDLRYDP NWKSKKEEGQ LLSVEALPES TDSSLENLPL APLYPSQETS MELSGGKGEQ
KESPQSAASL LGSEFLSPNY EHGARRSKPF SELSDSDLEE KSSSLSPYVK SSSSHNEVFL
PGSRGPRRRK SKQHFVEKNK LTLGLPTPKT DSYLQLHNKK RGESHPEQIS YPVRVTDKTS
IQNAKEMENA AIDPEDKWHQ RAQQLKNYQE HWSQYESTKS SNVPRGQPSD MVNDHQPSRR
PAKLKIRKQC KHQNGLKSST TEEVTASQGN QNNPPRQQQN QNKPLDTSTK PESIVIMHAS
NNDVQASRAL RSHNLKETSN TFAPPKQAFD KVLSKNSTGC DSGLNVNKER GHKDQEEKRF
SYQQLHTLSD MDLNNLNELS KRHVLLSQKG SQFVYHINTH GSTKNKKQLK QPYTETKYRN
LEMLWKFHSS SDSQTVRASP DSWLTQIMEQ HQQALVQLTD VQPSEGALSS VTLPPILSRV
ESESQLSSER SQRNQVKISR SNSEGYLFQL EKGKKHKKRS SSKNTKLKGY QKRDVKLGGL
GPDFESIRDK TQKLIQQKEY AKQVKEYNMK TLSILSKPQT EKTQKKSAIP RQKALEYAKT
IPKPKPSNLT HQASKEQKNP TYAGKEESLP EISLLEILQN RHEREKQAVA AFKVLHIV
