QRIC2_HUMAN
ID QRIC2_HUMAN Reviewed; 1663 AA.
AC Q9H0J4; A2RRE1; Q96LM3;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Glutamine-rich protein 2;
GN Name=QRICH2;
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=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 993-1663 (ISOFORM 2), AND VARIANT
RP GLN-1036.
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=T-cell;
RX PubMed=19367720; DOI=10.1021/pr800500r;
RA Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.;
RT "Phosphorylation analysis of primary human T lymphocytes using sequential
RT IMAC and titanium oxide enrichment.";
RL J. Proteome Res. 7:5167-5176(2008).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH AKAP3;
RP ODF2 AND TSSK4, INVOLVEMENT IN SPGF35, VARIANTS SPGF35 64-TRP--ARG-1663
RP DEL; GLU-569; 1013-ARG--ARG-1663 DEL; LYS-1105; GLU-1112;
RP 1127-LEU--ARG-1663 DEL; VAL-1347 AND HIS-1494, AND CHARACTERIZATION OF
RP VARIANTS SPGF35 64-TRP--ARG-1663 DEL AND 1013-ARG--ARG-1663 DEL.
RX PubMed=30683861; DOI=10.1038/s41467-018-08182-x;
RA Shen Y., Zhang F., Li F., Jiang X., Yang Y., Li X., Li W., Wang X.,
RA Cheng J., Liu M., Zhang X., Yuan G., Pei X., Cai K., Hu F., Sun J., Yan L.,
RA Tang L., Jiang C., Tu W., Xu J., Wu H., Kong W., Li S., Wang K., Sheng K.,
RA Zhao X., Yue H., Yang X., Xu W.;
RT "Loss-of-function mutations in QRICH2 cause male infertility with multiple
RT morphological abnormalities of the sperm flagella.";
RL Nat. Commun. 10:433-433(2019).
CC -!- FUNCTION: Has an essential role in the formation of sperm flagella and
CC flagellar structure maintainance. It acts as a suppressor of
CC ubiquitination and degradation of proteins involved in flagellar
CC development and motility. {ECO:0000269|PubMed:30683861}.
CC -!- SUBUNIT: Interacts with AKAP3, ODF2 and TSSK4.
CC {ECO:0000269|PubMed:30683861}.
CC -!- SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q3V2A7}.
CC Nucleus {ECO:0000250|UniProtKB:Q3V2A7}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q3V2A7}. Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:30683861}. Note=Localization varies during
CC spermatozoa development. The protein is distributed in the nuclear
CC membrane of the spermatogonia, in the nucleus of round spermatids, in
CC the nucleus and cytoplasm of early elongating spermatids, in the
CC cytoplasm of late elongating spermatids, and in the flagella of
CC epididymal spermatozoa. {ECO:0000250|UniProtKB:Q3V2A7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H0J4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0J4-2; Sequence=VSP_027102, VSP_027103;
CC Name=3;
CC IsoId=Q9H0J4-3; Sequence=VSP_027101;
CC -!- TISSUE SPECIFICITY: Expressed in the sperm.
CC {ECO:0000269|PubMed:30683861}.
CC -!- DISEASE: Spermatogenic failure 35 (SPGF35) [MIM:618341]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects that
CC result in multiple abnormalities of sperm flagellum and severely
CC impaired spermatozoa motility. {ECO:0000269|PubMed:30683861}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71667.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL136774; CAB66708.1; -; mRNA.
DR EMBL; BC131559; AAI31560.1; -; mRNA.
DR EMBL; AK058102; BAB71667.1; ALT_INIT; mRNA.
DR RefSeq; NP_115510.1; NM_032134.2. [Q9H0J4-1]
DR AlphaFoldDB; Q9H0J4; -.
DR SMR; Q9H0J4; -.
DR BioGRID; 123869; 8.
DR DIP; DIP-50256N; -.
DR IntAct; Q9H0J4; 3.
DR STRING; 9606.ENSP00000262765; -.
DR iPTMnet; Q9H0J4; -.
DR PhosphoSitePlus; Q9H0J4; -.
DR BioMuta; QRICH2; -.
DR DMDM; 74717987; -.
DR EPD; Q9H0J4; -.
DR jPOST; Q9H0J4; -.
DR MassIVE; Q9H0J4; -.
DR MaxQB; Q9H0J4; -.
DR PaxDb; Q9H0J4; -.
DR PeptideAtlas; Q9H0J4; -.
DR PRIDE; Q9H0J4; -.
DR ProteomicsDB; 80286; -. [Q9H0J4-1]
DR ProteomicsDB; 80287; -. [Q9H0J4-2]
DR ProteomicsDB; 80288; -. [Q9H0J4-3]
DR Antibodypedia; 19682; 19 antibodies from 9 providers.
DR DNASU; 84074; -.
DR Ensembl; ENST00000262765.10; ENSP00000262765.5; ENSG00000129646.16. [Q9H0J4-1]
DR GeneID; 84074; -.
DR KEGG; hsa:84074; -.
DR UCSC; uc002jrd.1; human. [Q9H0J4-1]
DR CTD; 84074; -.
DR DisGeNET; 84074; -.
DR GeneCards; QRICH2; -.
DR HGNC; HGNC:25326; QRICH2.
DR HPA; ENSG00000129646; Tissue enhanced (testis).
DR MalaCards; QRICH2; -.
DR MIM; 618304; gene.
DR MIM; 618341; phenotype.
DR neXtProt; NX_Q9H0J4; -.
DR OpenTargets; ENSG00000129646; -.
DR PharmGKB; PA142671107; -.
DR VEuPathDB; HostDB:ENSG00000129646; -.
DR eggNOG; ENOG502R9P3; Eukaryota.
DR GeneTree; ENSGT00940000161294; -.
DR HOGENOM; CLU_003234_0_0_1; -.
DR InParanoid; Q9H0J4; -.
DR OrthoDB; 430976at2759; -.
DR PhylomeDB; Q9H0J4; -.
DR TreeFam; TF334838; -.
DR PathwayCommons; Q9H0J4; -.
DR SignaLink; Q9H0J4; -.
DR BioGRID-ORCS; 84074; 13 hits in 1071 CRISPR screens.
DR ChiTaRS; QRICH2; human.
DR GenomeRNAi; 84074; -.
DR Pharos; Q9H0J4; Tdark.
DR PRO; PR:Q9H0J4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9H0J4; protein.
DR Bgee; ENSG00000129646; Expressed in left testis and 97 other tissues.
DR ExpressionAtlas; Q9H0J4; baseline and differential.
DR Genevisible; Q9H0J4; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0030031; P:cell projection assembly; IMP:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:2000059; P:negative regulation of ubiquitin-dependent protein catabolic process; IMP:UniProtKB.
DR InterPro; IPR032013; DUF4795.
DR Pfam; PF16043; DUF4795; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Disease variant; Flagellum; Membrane; Nucleus; Reference proteome.
FT CHAIN 1..1663
FT /note="Glutamine-rich protein 2"
FT /id="PRO_0000295814"
FT REGION 80..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 423..481
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 575..615
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 880..925
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 948..984
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1609..1663
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1085..1160
FT /evidence="ECO:0000255"
FT COILED 1286..1325
FT /evidence="ECO:0000255"
FT COMPBIAS 80..107
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 115..149
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..186
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 202..216
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 885..911
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1609..1624
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1634..1663
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..1156
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027101"
FT VAR_SEQ 1375
FT /note="N -> A (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027102"
FT VAR_SEQ 1376..1609
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027103"
FT VARIANT 64..1663
FT /note="Missing (in SPGF35; the protein is not detected in
FT patient spermatozoa)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082018"
FT VARIANT 202
FT /note="L -> S (in dbSNP:rs6501880)"
FT /id="VAR_051295"
FT VARIANT 569
FT /note="V -> E (in SPGF35; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082019"
FT VARIANT 630
FT /note="I -> T (in dbSNP:rs6501878)"
FT /id="VAR_051296"
FT VARIANT 630
FT /note="I -> V (in dbSNP:rs6501879)"
FT /id="VAR_059711"
FT VARIANT 681
FT /note="V -> D (in dbSNP:rs6501874)"
FT /id="VAR_059712"
FT VARIANT 906
FT /note="H -> Y (in dbSNP:rs2279054)"
FT /id="VAR_051297"
FT VARIANT 974
FT /note="H -> R (in dbSNP:rs2279053)"
FT /id="VAR_051298"
FT VARIANT 1013..1663
FT /note="Missing (in SPGF35; weak amount of protein detected
FT in patient spermatozoa)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082020"
FT VARIANT 1036
FT /note="E -> Q (in dbSNP:rs2279052)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_051299"
FT VARIANT 1105
FT /note="Q -> K (in SPGF35; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082021"
FT VARIANT 1112
FT /note="G -> E (in SPGF35; unknown pathological
FT significance; dbSNP:rs757438651)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082022"
FT VARIANT 1127..1663
FT /note="Missing (in SPGF35)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082023"
FT VARIANT 1347
FT /note="M -> V (in SPGF35; unknown pathological
FT significance; dbSNP:rs775768893)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082024"
FT VARIANT 1494
FT /note="R -> H (in SPGF35; unknown pathological
FT significance; dbSNP:rs144208097)"
FT /evidence="ECO:0000269|PubMed:30683861"
FT /id="VAR_082025"
SQ SEQUENCE 1663 AA; 180827 MW; 62E1441FEF5C4DEE CRC64;
MKDAAEELSF ARVLLQRVDE LEKLFKDREQ FLELVSRKLS LVPGAEEVTM VTWEELEQAI
TDGWRASQAG SETLMGFSKH GGFTSLTSPE GTLSGDSTKQ PSIEQALDSA SGLGPDRTAS
GSGGTAHPSD GVSSREQSKV PSGTGRQQQP RARDEAGVPR LHQSSTFQFK SDSDRHRSRE
KLTSTQPRRN ARPGPVQQDL PLARDQPSSV PASQSQVHLR PDRRGLEPTG MNQPGLVPAS
TYPHGVVPLS MGQLGVPPPE MDDRELIPFV VDEQRMLPPS VPGRDQQGLE LPSTDQHGLV
SVSAYQHGMT FPGTDQRSME PLGMDQRGCV ISGMGQQGLV PPGIDQQGLT LPVVDQHGLV
LPFTDQHGLV SPGLMPISAD QQGFVQPSLE ATGFIQPGTE QHDLIQSGRF QRALVQRGAY
QPGLVQPGAD QRGLVRPGMD QSGLAQPGAD QRGLVWPGMD QSGLAQPGRD QHGLIQPGTG
QHDLVQSGTG QGVLVQPGVD QPGMVQPGRF QRALVQPGAY QPGLVQPGAD QIDVVQPGAD
QHGLVQSGAD QSDLAQPGAV QHGLVQPGVD QRGLAQPRAD HQRGLVPPGA DQRGLVQPGA
DQHGLVQPGV DQHGLAQPGE VQRSLVQPGI VQRGLVQPGA VQRGLVQPGA VQRGLVQPGV
DQRGLVQPGA VQRGLVQPGA VQHGLVQPGA DQRGLVQPGV DQRGLVQPGV DQRGLVQPGM
DQRGLIQPGA DQPGLVQPGA GQLGMVQPGI GQQGMVQPQA DPHGLVQPGA YPLGLVQPGA
YLHDLSQSGT YPRGLVQPGM DQYGLRQPGA YQPGLIAPGT KLRGSSTFQA DSTGFISVRP
YQHGMVPPGR EQYGQVSPLL ASQGLASPGI DRRSLVPPET YQQGLMHPGT DQHSPIPLST
GLGSTHPDQQ HVASPGPGEH DQVYPDAAQH GHAFSLFDSH DSMYPGYRGP GYLSADQHGQ
EGLDPNRTRA SDRHGIPAQK APGQDVTLFR SPDSVDRVLS EGSEVSSEVL SERRNSLRRM
SSSFPTAVET FHLMGELSSL YVGLKESMKD LDEEQAGQTD LEKIQFLLAQ MVKRTIPPEL
QEQLKTVKTL AKEVWQEKAK VERLQRILEG EGNQEAGKEL KAGELRLQLG VLRVTVADIE
KELAELRESQ DRGKAAMENS VSEASLYLQD QLDKLRMIIE SMLTSSSTLL SMSMAPHKAH
TLAPGQIDPE ATCPACSLDV SHQVSTLVRR YEQLQDMVNS LAVSRPSKKA KLQRQDEELL
GRVQSAILQV QGDCEKLNIT TSNLIEDHRQ KQKDIAMLYQ GLEKLEKEKA NREHLEMEID
VKADKSALAT KVSRVQFDAT TEQLNHMMQE LVAKMSGQEQ DWQKMLDRLL TEMDNKLDRL
ELDPVKQLLE DRWKSLRQQL RERPPLYQAD EAAAMRRQLL AHFHCLSCDR PLETPVTGHA
IPVTPAGPGL PGHHSIRPYT VFELEQVRQH SRNLKLGSAF PRGDLAQMEQ SVGRLRSMHS
KMLMNIEKVQ IHFGGSTKAS SQIIRELLHA QCLGSPCYKR VTDMADYTYS TVPRRCGGSH
TLTYPYHRSR PQHLPRGLYP TEEIQIAMKH DEVDILGLDG HIYKGRMDTR LPGILRKDSS
GTSKRKSQQP RPHVHRPPSL SSNGQLPSRP QSAQISAGNT SER
