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ERIP6_HUMAN
ID   ERIP6_HUMAN             Reviewed;         663 AA.
AC   Q7L0X2; Q8N9Y8; Q8NCQ6; Q8NCZ6;
DT   26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT   30-AUG-2005, sequence version 1.
DT   03-AUG-2022, entry version 113.
DE   RecName: Full=Glutamate-rich protein 6;
DE   AltName: Full=Protein FAM194A;
GN   Name=ERICH6; Synonyms=C3orf44, FAM194A;
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] (ISOFORMS 1 AND 3).
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-608 (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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-663 (ISOFORMS 1/2/3).
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q7L0X2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q7L0X2-2; Sequence=VSP_026313;
CC       Name=3;
CC         IsoId=Q7L0X2-3; Sequence=VSP_026312;
CC   -!- SIMILARITY: Belongs to the ERICH6 family. {ECO:0000305}.
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DR   EMBL; BC029577; AAH29577.1; -; mRNA.
DR   EMBL; BC036239; AAH36239.2; -; mRNA.
DR   EMBL; AK093375; BAC04146.1; -; mRNA.
DR   EMBL; AL834214; CAD38896.2; -; mRNA.
DR   CCDS; CCDS3151.2; -. [Q7L0X2-1]
DR   CCDS; CCDS77840.1; -. [Q7L0X2-3]
DR   RefSeq; NP_001295163.1; NM_001308234.1. [Q7L0X2-3]
DR   RefSeq; NP_689607.2; NM_152394.4. [Q7L0X2-1]
DR   AlphaFoldDB; Q7L0X2; -.
DR   BioGRID; 126294; 17.
DR   IntAct; Q7L0X2; 2.
DR   STRING; 9606.ENSP00000295910; -.
DR   iPTMnet; Q7L0X2; -.
DR   PhosphoSitePlus; Q7L0X2; -.
DR   BioMuta; ERICH6; -.
DR   DMDM; 121944419; -.
DR   MassIVE; Q7L0X2; -.
DR   PaxDb; Q7L0X2; -.
DR   PeptideAtlas; Q7L0X2; -.
DR   PRIDE; Q7L0X2; -.
DR   Antibodypedia; 62352; 15 antibodies from 7 providers.
DR   DNASU; 131831; -.
DR   Ensembl; ENST00000295910.11; ENSP00000295910.6; ENSG00000163645.15. [Q7L0X2-1]
DR   Ensembl; ENST00000491361.5; ENSP00000419366.1; ENSG00000163645.15. [Q7L0X2-3]
DR   GeneID; 131831; -.
DR   KEGG; hsa:131831; -.
DR   MANE-Select; ENST00000295910.11; ENSP00000295910.6; NM_152394.5; NP_689607.2.
DR   UCSC; uc003eyg.4; human. [Q7L0X2-1]
DR   CTD; 131831; -.
DR   GeneCards; ERICH6; -.
DR   HGNC; HGNC:28602; ERICH6.
DR   HPA; ENSG00000163645; Tissue enriched (testis).
DR   neXtProt; NX_Q7L0X2; -.
DR   OpenTargets; ENSG00000163645; -.
DR   PharmGKB; PA165697300; -.
DR   VEuPathDB; HostDB:ENSG00000163645; -.
DR   eggNOG; ENOG502QUAE; Eukaryota.
DR   GeneTree; ENSGT00940000153655; -.
DR   HOGENOM; CLU_030265_0_0_1; -.
DR   InParanoid; Q7L0X2; -.
DR   OMA; GNRVRAW; -.
DR   OrthoDB; 866189at2759; -.
DR   PhylomeDB; Q7L0X2; -.
DR   TreeFam; TF350393; -.
DR   PathwayCommons; Q7L0X2; -.
DR   SignaLink; Q7L0X2; -.
DR   BioGRID-ORCS; 131831; 14 hits in 1062 CRISPR screens.
DR   GenomeRNAi; 131831; -.
DR   Pharos; Q7L0X2; Tdark.
DR   PRO; PR:Q7L0X2; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q7L0X2; protein.
DR   Bgee; ENSG00000163645; Expressed in right testis and 110 other tissues.
DR   ExpressionAtlas; Q7L0X2; baseline and differential.
DR   Genevisible; Q7L0X2; HS.
DR   InterPro; IPR029281; FAM194_C.
DR   Pfam; PF14977; FAM194; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..663
FT                   /note="Glutamate-rich protein 6"
FT                   /id="PRO_0000291924"
FT   REGION          1..74
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          106..136
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        22..71
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..146
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_026312"
FT   VAR_SEQ         22..63
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_026313"
FT   VARIANT         9
FT                   /note="G -> V (in dbSNP:rs16862795)"
FT                   /id="VAR_032893"
FT   VARIANT         433
FT                   /note="G -> R (in dbSNP:rs11919896)"
FT                   /id="VAR_032894"
FT   VARIANT         604
FT                   /note="R -> H (in dbSNP:rs34137455)"
FT                   /id="VAR_062240"
SQ   SEQUENCE   663 AA;  75255 MW;  FB31D4C940CE4072 CRC64;
     MAHLRSPSGF GDPGKKDQKE SEEELEEEEE EEEVEEEEEE VEEEEEEVEE EEEEVVEEEL
     VGEEQELEAP ETFSEEYLWK VTDIGDYDDD FPDVRPRLAS IVSPSLTSTF VPSQSATSTE
     TPSASPPSST SSHKSFPKIF QTFRKDMSEM SIDRNIHRNL SPGIPVSVQT EESWLQDLSD
     KVQSRKKASK EKAEPECLAS KLREKWVINP EESKLNILYE LEFKEDFITL FEPSLRTLPS
     IGPPSILAYK EESSNLGINF KDEEEETSPK CEFCGSDLRA FFSNVDVSSE PKGHASCCIA
     FQNLIDYIYE EQIKTKPPKA ELIAIDPHAA HGSEVDRLKA KEKALQRKQE QRMARHFAII
     SREQTHFSED DSKRLKTISY QLSVDIPEKQ IIDDIVFDFQ LRNSNMSIIC CDSRIACGKV
     VRNELLEKHY KHGSKFLTSF PDGTTQIFYP SGNLAIIRVP NKVNGFTCIV QEDMPTNPAI
     LAVLDSSGRS SCYHPNGNVW VYINILGGQY SDQAGNRIRA WNWSNSITSS PFVSFKPVFL
     ALNRYIGVRI LEQDKISITF LAMGQQARIS VGTKVKLPNP EEIPILRYVS GDDLLLLASL
     IKIRRLFHKL EGCVNFPSSQ VWEKLKQPSY LSSLSLKLIA LCHSSGIKQD IMKTIRNIIN
     EEI
 
 
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