HOATZ_HUMAN
ID HOATZ_HUMAN Reviewed; 169 AA.
AC Q6PI97; E9PAN0; Q6ZRL3;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Cilia- and flagella-associated protein HOATZ {ECO:0000312|HGNC:HGNC:25061};
GN Name=HOATZ {ECO:0000312|HGNC:HGNC:25061};
GN Synonyms=C11orf88, HOATZIN {ECO:0000250|UniProtKB:Q80Y73};
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 2).
RC TISSUE=Testis;
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].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-169 (ISOFORM 1).
RC TISSUE=Duodenum;
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 motile ciliogenesis and flagellar genesis by
CC mediating the maturation of the glycolytic enzyme ENO4.
CC {ECO:0000250|UniProtKB:Q80Y73}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q80Y73}. Cell
CC projection, cilium {ECO:0000250|UniProtKB:Q80Y73}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6PI97-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PI97-2; Sequence=VSP_032883, VSP_032884;
CC Name=3;
CC IsoId=Q6PI97-3; Sequence=VSP_032883;
CC -!- SIMILARITY: Belongs to the HOATZ family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH39505.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK128145; BAC87297.1; -; mRNA.
DR EMBL; AP002008; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039505; AAH39505.1; ALT_INIT; mRNA.
DR CCDS; CCDS41712.1; -. [Q6PI97-3]
DR CCDS; CCDS41713.1; -. [Q6PI97-1]
DR RefSeq; NP_001093858.1; NM_001100388.1. [Q6PI97-1]
DR RefSeq; NP_997313.2; NM_207430.2. [Q6PI97-3]
DR AlphaFoldDB; Q6PI97; -.
DR SMR; Q6PI97; -.
DR iPTMnet; Q6PI97; -.
DR PhosphoSitePlus; Q6PI97; -.
DR BioMuta; C11orf88; -.
DR DMDM; 182705208; -.
DR MassIVE; Q6PI97; -.
DR PeptideAtlas; Q6PI97; -.
DR PRIDE; Q6PI97; -.
DR ProteomicsDB; 19051; -.
DR ProteomicsDB; 67145; -. [Q6PI97-1]
DR ProteomicsDB; 67146; -. [Q6PI97-2]
DR Antibodypedia; 62221; 1 antibodies from 1 providers.
DR DNASU; 399949; -.
DR Ensembl; ENST00000332814.6; ENSP00000333845.6; ENSG00000183644.14. [Q6PI97-3]
DR Ensembl; ENST00000375618.9; ENSP00000364768.4; ENSG00000183644.14. [Q6PI97-1]
DR GeneID; 399949; -.
DR KEGG; hsa:399949; -.
DR MANE-Select; ENST00000375618.9; ENSP00000364768.4; NM_001100388.2; NP_001093858.1.
DR UCSC; uc001pln.5; human. [Q6PI97-1]
DR CTD; 399949; -.
DR GeneCards; HOATZ; -.
DR HGNC; HGNC:25061; HOATZ.
DR HPA; ENSG00000183644; Group enriched (choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q6PI97; -.
DR OpenTargets; ENSG00000183644; -.
DR VEuPathDB; HostDB:ENSG00000183644; -.
DR GeneTree; ENSGT00390000002677; -.
DR HOGENOM; CLU_122904_0_0_1; -.
DR InParanoid; Q6PI97; -.
DR OMA; MYPPNES; -.
DR OrthoDB; 1614119at2759; -.
DR PhylomeDB; Q6PI97; -.
DR TreeFam; TF328616; -.
DR PathwayCommons; Q6PI97; -.
DR BioGRID-ORCS; 399949; 17 hits in 1033 CRISPR screens.
DR ChiTaRS; C11orf88; human.
DR GenomeRNAi; 399949; -.
DR Pharos; Q6PI97; Tdark.
DR PRO; PR:Q6PI97; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6PI97; protein.
DR Bgee; ENSG00000183644; Expressed in right uterine tube and 96 other tissues.
DR ExpressionAtlas; Q6PI97; baseline and differential.
DR Genevisible; Q6PI97; HS.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR040681; HOATZ-like.
DR PANTHER; PTHR47231; PTHR47231; 1.
DR Pfam; PF17664; HOATZ-like; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cytoplasm; Reference proteome.
FT CHAIN 1..169
FT /note="Cilia- and flagella-associated protein HOATZ"
FT /id="PRO_0000328995"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 52..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 144..169
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 113
FT /note="K -> KTRSHSVTQNEVQWHDHGSLQPQLSRIQ (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032883"
FT VAR_SEQ 151..169
FT /note="KKVVSESDKEDQEEVKTLD -> E (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032884"
SQ SEQUENCE 169 AA; 19340 MW; D52B248E1197299D CRC64;
METGPSEEPS GRKESQEMCP PGLLVFAGSS EQDANLAKQF WISASMYPPS ESQLVLRRDS
SQRLPVARPR RSRGSENSHS SQSFHLASNK NRDIFAEALK IQESEEKVKY LQKAKTREEI
LQLLRKQREE RISKELISLP YKPKAKEHKA KKVVSESDKE DQEEVKTLD
