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   02-OCT-2024, entry version 116.
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   STRING; 9606.ENSP00000333845; -.
DR   iPTMnet; Q6PI97; -.
DR   PhosphoSitePlus; Q6PI97; -.
DR   BioMuta; C11orf88; -.
DR   DMDM; 182705208; -.
DR   MassIVE; Q6PI97; -.
DR   PeptideAtlas; Q6PI97; -.
DR   ProteomicsDB; 19051; -.
DR   ProteomicsDB; 67145; -. [Q6PI97-1]
DR   ProteomicsDB; 67146; -. [Q6PI97-2]
DR   Antibodypedia; 62221; 2 antibodies from 2 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   AGR; HGNC:25061; -.
DR   CTD; 399949; -.
DR   DisGeNET; 399949; -.
DR   GeneCards; HOATZ; -.
DR   HGNC; HGNC:25061; HOATZ.
DR   HPA; ENSG00000183644; Group enriched (choroid plexus, fallopian tube).
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; YAAMGDQ; -.
DR   OrthoDB; 2952017at2759; -.
DR   PhylomeDB; Q6PI97; -.
DR   TreeFam; TF328616; -.
DR   PathwayCommons; Q6PI97; -.
DR   BioGRID-ORCS; 399949; 18 hits in 1109 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 97 other cell types or tissues.
DR   ExpressionAtlas; Q6PI97; baseline and differential.
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:SF1; CILIA- AND FLAGELLA-ASSOCIATED PROTEIN HOATZ; 1.
DR   PANTHER; PTHR47231; UPF0722 PROTEIN C11ORF88; 1.
DR   Pfam; PF17664; HOATZ-like; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell projection; Cytoplasm;
KW   Proteomics identification; 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
//