ID ERI6B_HUMAN Reviewed; 696 AA. AC Q5W0A0; Q96MB5; DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot. DT 07-DEC-2004, sequence version 1. DT 24-JAN-2024, entry version 119. DE RecName: Full=Glutamate-rich protein 6B; DE AltName: Full=Protein FAM194B; GN Name=ERICH6B; Synonyms=FAM194B; 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), AND VARIANT LYS-178. 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=15057823; DOI=10.1038/nature02379; RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., RA Frankish A.G., Frankland J., French L., Garner P., Garnett J., RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., RA Rogers J., Ross M.T.; RT "The DNA sequence and analysis of human chromosome 13."; RL Nature 428:522-528(2004). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q5W0A0-1; Sequence=Displayed; CC Name=2; CC IsoId=Q5W0A0-2; Sequence=VSP_032523; CC -!- SIMILARITY: Belongs to the ERICH6 family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK057244; BAB71393.1; -; mRNA. DR EMBL; AL139326; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR CCDS; CCDS45045.1; -. [Q5W0A0-1] DR RefSeq; NP_872348.2; NM_182542.2. [Q5W0A0-1] DR RefSeq; XP_016875907.1; XM_017020418.1. [Q5W0A0-1] DR AlphaFoldDB; Q5W0A0; -. DR BioGRID; 128626; 4. DR IntAct; Q5W0A0; 2. DR MINT; Q5W0A0; -. DR STRING; 9606.ENSP00000298738; -. DR iPTMnet; Q5W0A0; -. DR PhosphoSitePlus; Q5W0A0; -. DR BioMuta; ERICH6B; -. DR DMDM; 74747903; -. DR EPD; Q5W0A0; -. DR MassIVE; Q5W0A0; -. DR PaxDb; 9606-ENSP00000298738; -. DR PeptideAtlas; Q5W0A0; -. DR ProteomicsDB; 65755; -. [Q5W0A0-1] DR ProteomicsDB; 65756; -. [Q5W0A0-2] DR Antibodypedia; 57850; 21 antibodies from 9 providers. DR DNASU; 220081; -. DR Ensembl; ENST00000298738.3; ENSP00000298738.2; ENSG00000165837.12. [Q5W0A0-1] DR GeneID; 220081; -. DR KEGG; hsa:220081; -. DR MANE-Select; ENST00000298738.3; ENSP00000298738.2; NM_182542.3; NP_872348.2. DR UCSC; uc001val.2; human. [Q5W0A0-1] DR AGR; HGNC:26523; -. DR CTD; 220081; -. DR DisGeNET; 220081; -. DR GeneCards; ERICH6B; -. DR HGNC; HGNC:26523; ERICH6B. DR HPA; ENSG00000165837; Tissue enriched (testis). DR neXtProt; NX_Q5W0A0; -. DR PharmGKB; PA165505094; -. DR VEuPathDB; HostDB:ENSG00000165837; -. DR eggNOG; ENOG502S2BR; Eukaryota. DR GeneTree; ENSGT00940000153655; -. DR HOGENOM; CLU_025846_0_0_1; -. DR InParanoid; Q5W0A0; -. DR OMA; NVMEFAS; -. DR OrthoDB; 5305866at2759; -. DR PhylomeDB; Q5W0A0; -. DR TreeFam; TF350393; -. DR PathwayCommons; Q5W0A0; -. DR SignaLink; Q5W0A0; -. DR BioGRID-ORCS; 220081; 49 hits in 1140 CRISPR screens. DR ChiTaRS; ERICH6B; human. DR GenomeRNAi; 220081; -. DR Pharos; Q5W0A0; Tdark. DR PRO; PR:Q5W0A0; -. DR Proteomes; UP000005640; Chromosome 13. DR RNAct; Q5W0A0; Protein. DR Bgee; ENSG00000165837; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 93 other cell types or tissues. DR InterPro; IPR029281; FAM194_C. DR PANTHER; PTHR23093:SF17; GLUTAMATE-RICH PROTEIN 6B; 1. DR PANTHER; PTHR23093; SIMILAR TO CHROMOSOME 3 OPEN READING FRAME 20; 1. DR Pfam; PF14977; FAM194; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Reference proteome. FT CHAIN 1..696 FT /note="Glutamate-rich protein 6B" FT /id="PRO_0000326050" FT REGION 1..105 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 33..47 FT /note="Acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 57..73 FT /note="Acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 74..98 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 134..139 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_032523" FT VARIANT 63 FT /note="E -> D (in dbSNP:rs12020217)" FT /id="VAR_039969" FT VARIANT 99 FT /note="E -> G (in dbSNP:rs12020731)" FT /id="VAR_039970" FT VARIANT 174 FT /note="S -> T (in dbSNP:rs17066954)" FT /id="VAR_039971" FT VARIANT 178 FT /note="E -> K (in dbSNP:rs3014939)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_039972" FT VARIANT 303 FT /note="L -> P (in dbSNP:rs11618506)" FT /id="VAR_039973" FT VARIANT 427 FT /note="T -> I (in dbSNP:rs749071)" FT /id="VAR_039974" FT VARIANT 439 FT /note="P -> R (in dbSNP:rs12429125)" FT /id="VAR_039975" FT VARIANT 453 FT /note="H -> R (in dbSNP:rs17066902)" FT /id="VAR_039976" FT VARIANT 565 FT /note="R -> C (in dbSNP:rs7327901)" FT /id="VAR_039977" FT VARIANT 653 FT /note="V -> F (in dbSNP:rs1536207)" FT /id="VAR_039978" FT CONFLICT 101 FT /note="A -> V (in Ref. 1; BAB71393)" FT /evidence="ECO:0000305" SQ SEQUENCE 696 AA; 81686 MW; E82E8019FB58C9A9 CRC64; MSAENNQLSG ASPPHPPTTP QYSTQNLPSE KEDTEVELDE ESLQDESPFS PEGESLEDKE YLEEEEDLEE EEYLGKEEYL KEEEYLGKEE HLEEEEYLEK AGYLEEEEYI EEEEYLGKEG YLEEEEYLGK EEHLEEEEYL GKEGYLEKED YIEEVDYLGK KAYLEEEEYL GKKSYLEEEK ALEKEENLEE EEALEKEENL DGKENLYKKY LKEPKASYSS QTMLLRDARS PDAGPSQVTT FLTVPLTFAT PSPVSESATE SSELLLTLYR RSQASQTDWC YDRTAVKSLK SKSETEQETT TKLAPEEHVN TKVQQKKEEN VLEFASKENF WDGITDESID KLEVEDLDEN FLNSSYQTVF KTIIKEMAAH NELEEDFDIP LTKLLESENR WKLVIMLKKN YEKFKETILR IKRRREAQKL TEMTSFTFHL MSKPTPEKPE TEEIQKPQRV VHHRKKLERD KEWIQKKTVV HQGDGKLILY PNKNVYQILF PDGTGQIHYP SGNLAMLILY AKMKKFTYII LEDSLEGRIR ALINNSGNAT FYDENSDIWL NLSSNLGYYF PKDKRQKAWN WWNLNIHVHA PPVQPISLKI NEYIQVQIRS QDKIIFCFTY EQKQICLNLG TRYKFVIPEV LSEMKKKTIL EAEPGPTAQK IRVLLGKMNR LLNYATTPDL ENFIEAVSIS LMDNKYLKKM LSKLWF //