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 10-JUN-2026, entry version 140.
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};
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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_001350018.1; NM_001363089.2. [Q6NUN7-1]
DR RefSeq; NP_079082.2; NM_024806.3. [Q6NUN7-1]
DR RefSeq; NP_954575.1; NM_199124.3. [Q6NUN7-2]
DR AlphaFoldDB; Q6NUN7; -.
DR BioGRID; 122952; 10.
DR FunCoup; Q6NUN7; 5.
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 jPOST; Q6NUN7; -.
DR MassIVE; Q6NUN7; -.
DR PaxDb; 9606-ENSP00000227349; -.
DR PeptideAtlas; 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; ENSG00000109944.12. [Q6NUN7-1]
DR Ensembl; ENST00000307257.10; ENSP00000307695.5; ENSG00000109944.12. [Q6NUN7-2]
DR Ensembl; ENST00000531316.1; ENSP00000431669.1; ENSG00000109944.12. [Q6NUN7-1]
DR Ensembl; ENST00000909267.1; ENSP00000579326.1; ENSG00000109944.12. [Q6NUN7-1]
DR Ensembl; ENST00000956068.1; ENSP00000626127.1; ENSG00000109944.12. [Q6NUN7-1]
DR Ensembl; ENST00000956069.1; ENSP00000626128.1; ENSG00000109944.12. [Q6NUN7-1]
DR Ensembl; ENST00000956075.1; ENSP00000626134.1; ENSG00000109944.12. [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 AGR; HGNC:26288; -.
DR ClinPGx; PA143485358; -.
DR CTD; 79864; -.
DR DisGeNET; 79864; -.
DR GeneCards; JHY; -.
DR HGNC; HGNC:26288; JHY.
DR HPA; ENSG00000109944; Tissue enhanced (choroid plexus, testis).
DR MIM; 617594; gene.
DR OpenTargets; ENSG00000109944; -.
DR VEuPathDB; HostDB:ENSG00000109944; -.
DR eggNOG; ENOG502S6KC; Eukaryota.
DR GeneTree; ENSGT00390000002823; -.
DR HOGENOM; CLU_407472_0_0_1; -.
DR InParanoid; Q6NUN7; -.
DR OMA; WKFHPSS; -.
DR OrthoDB; 10057281at2759; -.
DR PAN-GO; Q6NUN7; 2 GO annotations based on evolutionary models.
DR PhylomeDB; Q6NUN7; -.
DR PathwayCommons; Q6NUN7; -.
DR SignaLink; Q6NUN7; -.
DR Agora; ENSG00000109944; -.
DR BioGRID-ORCS; 79864; 39 hits in 1114 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 155 other cell types or tissues.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR InterPro; IPR027968; JHY.
DR PANTHER; PTHR14726; JHY PROTEIN HOMOLOG; 1.
DR PANTHER; PTHR14726:SF1; JHY PROTEIN HOMOLOG; 1.
DR Pfam; PF15261; JHY; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cilium biogenesis/degradation;
KW Proteomics identification; 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 118..139
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..234
FT /note="Low complexity"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 334..344
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 358..371
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 375..389
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 390..402
FT /note="Low complexity"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 633..650
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 733..746
FT /note="Basic and acidic 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
//
