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
