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HOATZ_MOUSE
ID   HOATZ_MOUSE             Reviewed;         168 AA.
AC   Q80Y73; Q3V0W8;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2003, sequence version 1.
DT   03-AUG-2022, entry version 94.
DE   RecName: Full=Cilia- and flagella-associated protein HOATZ {ECO:0000305|PubMed:32248064};
GN   Name=Hoatz {ECO:0000312|MGI:MGI:1921013};
GN   Synonyms=Hoatzin {ECO:0000303|PubMed:32248064};
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=C57BL/6J; TISSUE=Testis;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA   Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA   Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA   Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA   Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA   Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA   Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA   Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA   Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA   Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA   Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA   Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA   Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA   Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA   Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA   Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA   Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA   Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA   Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA   Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA   van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA   Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA   Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA   Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA   Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA   Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA   Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA   Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA   Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=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).
RN   [3]
RP   TISSUE SPECIFICITY, DISRUPTION PHENOTYPE, FUNCTION, SUBCELLULAR LOCATION,
RP   AND DEVELOPMENTAL STAGE.
RX   PubMed=32248064; DOI=10.1016/j.isci.2020.100992;
RA   Narita K., Nagatomo H., Kozuka-Hata H., Oyama M., Takeda S.;
RT   "Discovery of a Vertebrate-Specific Factor that Processes Flagellar
RT   Glycolytic Enolase during Motile Ciliogenesis.";
RL   IScience 23:100992-100992(2020).
CC   -!- FUNCTION: Required for motile ciliogenesis and flagellar genesis by
CC       mediating the maturation of the glycolytic enzyme ENO4.
CC       {ECO:0000269|PubMed:32248064}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32248064}. Cell
CC       projection, cilium {ECO:0000269|PubMed:32248064}.
CC   -!- TISSUE SPECIFICITY: Specifically expressed in tissues with motile cilia
CC       and flagella, such as brain ependyma, lung, testis, and oviduct but not
CC       in whole brain, liver,kidney, spleen, and eyeball.
CC       {ECO:0000269|PubMed:32248064}.
CC   -!- DEVELOPMENTAL STAGE: Detected as early as postnatal day 15 (P15), and
CC       then continually increased during the first 45 days.
CC       {ECO:0000269|PubMed:32248064}.
CC   -!- DISRUPTION PHENOTYPE: Male mice exhibit severe defects in
CC       spermatogenesis, leading to infertility and varying degrees of
CC       hydrocephalus. The epididymal ependymal cilia frequently show
CC       disorganized axonemes, reducing motility. Mutant testis shown lack of
CC       fully developed flagella in the lumen of the seminiferous tubules; the
CC       mutant spermatids elongate but do not maintain the axoneme, leading to
CC       severe destruction of the flagella. In contrast, the ultrastructures of
CC       motile cilia in the tracheal epithelia are intact. The deficient mice
CC       do not display laterality defects, polydactyly, polycystic kidney, or
CC       other notable abdominal organ abnormalities indicating that the nodal
CC       and primary cilia were unaffected. {ECO:0000269|PubMed:32248064}.
CC   -!- MISCELLANEOUS: Named Hoatz according to the Hydrocephalus and Oligo-
CC       Astheno-Terato-Zoospermia phenotype of Hoatz knockout mice.
CC       {ECO:0000305|PubMed:32248064}.
CC   -!- SIMILARITY: Belongs to the HOATZ family. {ECO:0000305}.
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DR   EMBL; AK132837; BAE21385.1; -; mRNA.
DR   EMBL; BC048587; AAH48587.1; -; mRNA.
DR   CCDS; CCDS40628.1; -.
DR   RefSeq; NP_808370.1; NM_177702.3.
DR   AlphaFoldDB; Q80Y73; -.
DR   SMR; Q80Y73; -.
DR   STRING; 10090.ENSMUSP00000126725; -.
DR   iPTMnet; Q80Y73; -.
DR   PhosphoSitePlus; Q80Y73; -.
DR   PaxDb; Q80Y73; -.
DR   PRIDE; Q80Y73; -.
DR   Antibodypedia; 62221; 1 antibodies from 1 providers.
DR   DNASU; 235345; -.
DR   Ensembl; ENSMUST00000170947; ENSMUSP00000126725; ENSMUSG00000032057.
DR   GeneID; 235345; -.
DR   KEGG; mmu:235345; -.
DR   UCSC; uc009plc.1; mouse.
DR   CTD; 399949; -.
DR   MGI; MGI:1921013; Hoatz.
DR   VEuPathDB; HostDB:ENSMUSG00000032057; -.
DR   eggNOG; ENOG502S8UY; Eukaryota.
DR   GeneTree; ENSGT00390000002677; -.
DR   HOGENOM; CLU_122904_0_0_1; -.
DR   InParanoid; Q80Y73; -.
DR   OMA; MYPPNES; -.
DR   OrthoDB; 1614119at2759; -.
DR   PhylomeDB; Q80Y73; -.
DR   TreeFam; TF328616; -.
DR   BioGRID-ORCS; 235345; 1 hit in 72 CRISPR screens.
DR   PRO; PR:Q80Y73; -.
DR   Proteomes; UP000000589; Chromosome 9.
DR   RNAct; Q80Y73; protein.
DR   Bgee; ENSMUSG00000032057; Expressed in choroid plexus epithelium and 39 other tissues.
DR   Genevisible; Q80Y73; MM.
DR   GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0035082; P:axoneme assembly; IMP:UniProtKB.
DR   GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR   GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR   GO; GO:0007283; P:spermatogenesis; IMP:UniProtKB.
DR   InterPro; IPR040681; HOATZ-like.
DR   PANTHER; PTHR47231; PTHR47231; 1.
DR   Pfam; PF17664; HOATZ-like; 1.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium biogenesis/degradation; Cytoplasm;
KW   Reference proteome.
FT   CHAIN           1..168
FT                   /note="Cilia- and flagella-associated protein HOATZ"
FT                   /id="PRO_0000328996"
FT   REGION          142..168
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CONFLICT        16
FT                   /note="Q -> H (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        31
FT                   /note="E -> Q (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        60
FT                   /note="S -> T (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        91
FT                   /note="A -> T (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        94
FT                   /note="F -> L (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        107
FT                   /note="A -> E (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        113
FT                   /note="A -> T (in Ref. 1; BAE21385)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   168 AA;  19068 MW;  155AECAE2DD2E94D CRC64;
     METGPRGCPS GRKESQEICS PGLLVFTGCS EQDANLAKQF WLGASMYPTT ESQLVLTRGS
     SQRLPVARNS KVVLREKSSV QPFPFDQDKD AIIFAKAQRI QESEERAKYL QKAKTRDEIL
     QLLRKQREER ISKELISLPY KPKDKVPKSK EVLSESGLRD QEEVKALE
 
 
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