ERI6B_HUMAN
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 03-AUG-2022, entry version 112.
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}.
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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; 3.
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; Q5W0A0; -.
DR PeptideAtlas; Q5W0A0; -.
DR PRIDE; Q5W0A0; -.
DR ProteomicsDB; 65755; -. [Q5W0A0-1]
DR ProteomicsDB; 65756; -. [Q5W0A0-2]
DR Antibodypedia; 57850; 20 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 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; MSAENNQ; -.
DR OrthoDB; 866189at2759; -.
DR PhylomeDB; Q5W0A0; -.
DR TreeFam; TF350393; -.
DR PathwayCommons; Q5W0A0; -.
DR SignaLink; Q5W0A0; -.
DR BioGRID-ORCS; 220081; 46 hits in 1062 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 right hemisphere of cerebellum and 92 other tissues.
DR InterPro; IPR029281; FAM194_C.
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
