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Q5W0A0

- ERI6B_HUMAN

UniProt

Q5W0A0 - ERI6B_HUMAN

Protein

Glutamate-rich protein 6B

Gene

ERICH6B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (07 Dec 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutamate-rich protein 6B
    Alternative name(s):
    Protein FAM194B
    Gene namesi
    Name:ERICH6B
    Synonyms:FAM194B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:26523. ERICH6B.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165505094.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 696696Glutamate-rich protein 6BPRO_0000326050Add
    BLAST

    Proteomic databases

    PaxDbiQ5W0A0.
    PRIDEiQ5W0A0.

    PTM databases

    PhosphoSiteiQ5W0A0.

    Expressioni

    Gene expression databases

    BgeeiQ5W0A0.
    GenevestigatoriQ5W0A0.

    Organism-specific databases

    HPAiCAB034242.
    HPA040358.
    HPA043559.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5W0A0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi30 – 198169Glu-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the ERICH6 family.Curated

    Phylogenomic databases

    eggNOGiNOG68709.
    HOGENOMiHOG000155621.
    InParanoidiQ5W0A0.
    OMAiMSAENNQ.
    OrthoDBiEOG70CR8G.
    PhylomeDBiQ5W0A0.
    TreeFamiTF350393.

    Family and domain databases

    InterProiIPR029281. FAM194.
    [Graphical view]
    PfamiPF14977. FAM194. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5W0A0-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSAENNQLSG ASPPHPPTTP QYSTQNLPSE KEDTEVELDE ESLQDESPFS    50
    PEGESLEDKE YLEEEEDLEE EEYLGKEEYL KEEEYLGKEE HLEEEEYLEK 100
    AGYLEEEEYI EEEEYLGKEG YLEEEEYLGK EEHLEEEEYL GKEGYLEKED 150
    YIEEVDYLGK KAYLEEEEYL GKKSYLEEEK ALEKEENLEE EEALEKEENL 200
    DGKENLYKKY LKEPKASYSS QTMLLRDARS PDAGPSQVTT FLTVPLTFAT 250
    PSPVSESATE SSELLLTLYR RSQASQTDWC YDRTAVKSLK SKSETEQETT 300
    TKLAPEEHVN TKVQQKKEEN VLEFASKENF WDGITDESID KLEVEDLDEN 350
    FLNSSYQTVF KTIIKEMAAH NELEEDFDIP LTKLLESENR WKLVIMLKKN 400
    YEKFKETILR IKRRREAQKL TEMTSFTFHL MSKPTPEKPE TEEIQKPQRV 450
    VHHRKKLERD KEWIQKKTVV HQGDGKLILY PNKNVYQILF PDGTGQIHYP 500
    SGNLAMLILY AKMKKFTYII LEDSLEGRIR ALINNSGNAT FYDENSDIWL 550
    NLSSNLGYYF PKDKRQKAWN WWNLNIHVHA PPVQPISLKI NEYIQVQIRS 600
    QDKIIFCFTY EQKQICLNLG TRYKFVIPEV LSEMKKKTIL EAEPGPTAQK 650
    IRVLLGKMNR LLNYATTPDL ENFIEAVSIS LMDNKYLKKM LSKLWF 696
    Length:696
    Mass (Da):81,686
    Last modified:December 7, 2004 - v1
    Checksum:iE82E8019FB58C9A9
    GO
    Isoform 2 (identifier: Q5W0A0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         134-139: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:690
    Mass (Da):80,893
    Checksum:i3BB417340E8E5E72
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti101 – 1011A → V in BAB71393. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631E → D.
    Corresponds to variant rs12020217 [ dbSNP | Ensembl ].
    VAR_039969
    Natural varianti99 – 991E → G.
    Corresponds to variant rs12020731 [ dbSNP | Ensembl ].
    VAR_039970
    Natural varianti174 – 1741S → T.
    Corresponds to variant rs17066954 [ dbSNP | Ensembl ].
    VAR_039971
    Natural varianti178 – 1781E → K.1 Publication
    Corresponds to variant rs3014939 [ dbSNP | Ensembl ].
    VAR_039972
    Natural varianti303 – 3031L → P.
    Corresponds to variant rs11618506 [ dbSNP | Ensembl ].
    VAR_039973
    Natural varianti427 – 4271T → I.
    Corresponds to variant rs749071 [ dbSNP | Ensembl ].
    VAR_039974
    Natural varianti439 – 4391P → R.
    Corresponds to variant rs12429125 [ dbSNP | Ensembl ].
    VAR_039975
    Natural varianti453 – 4531H → R.
    Corresponds to variant rs17066902 [ dbSNP | Ensembl ].
    VAR_039976
    Natural varianti565 – 5651R → C.
    Corresponds to variant rs7327901 [ dbSNP | Ensembl ].
    VAR_039977
    Natural varianti653 – 6531V → F.
    Corresponds to variant rs1536207 [ dbSNP | Ensembl ].
    VAR_039978

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei134 – 1396Missing in isoform 2. 1 PublicationVSP_032523

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057244 mRNA. Translation: BAB71393.1.
    AL139326 Genomic DNA. Translation: CAH72890.1.
    CCDSiCCDS45045.1. [Q5W0A0-1]
    RefSeqiNP_872348.2. NM_182542.2. [Q5W0A0-1]
    UniGeneiHs.668747.

    Genome annotation databases

    EnsembliENST00000298738; ENSP00000298738; ENSG00000165837. [Q5W0A0-1]
    GeneIDi220081.
    KEGGihsa:220081.
    UCSCiuc001val.2. human. [Q5W0A0-1]

    Polymorphism databases

    DMDMi74747903.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057244 mRNA. Translation: BAB71393.1 .
    AL139326 Genomic DNA. Translation: CAH72890.1 .
    CCDSi CCDS45045.1. [Q5W0A0-1 ]
    RefSeqi NP_872348.2. NM_182542.2. [Q5W0A0-1 ]
    UniGenei Hs.668747.

    3D structure databases

    ProteinModelPortali Q5W0A0.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q5W0A0.

    Polymorphism databases

    DMDMi 74747903.

    Proteomic databases

    PaxDbi Q5W0A0.
    PRIDEi Q5W0A0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298738 ; ENSP00000298738 ; ENSG00000165837 . [Q5W0A0-1 ]
    GeneIDi 220081.
    KEGGi hsa:220081.
    UCSCi uc001val.2. human. [Q5W0A0-1 ]

    Organism-specific databases

    CTDi 220081.
    GeneCardsi GC13M046115.
    HGNCi HGNC:26523. ERICH6B.
    HPAi CAB034242.
    HPA040358.
    HPA043559.
    neXtProti NX_Q5W0A0.
    PharmGKBi PA165505094.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68709.
    HOGENOMi HOG000155621.
    InParanoidi Q5W0A0.
    OMAi MSAENNQ.
    OrthoDBi EOG70CR8G.
    PhylomeDBi Q5W0A0.
    TreeFami TF350393.

    Miscellaneous databases

    GenomeRNAii 220081.
    NextBioi 90980.
    PROi Q5W0A0.

    Gene expression databases

    Bgeei Q5W0A0.
    Genevestigatori Q5W0A0.

    Family and domain databases

    InterProi IPR029281. FAM194.
    [Graphical view ]
    Pfami PF14977. FAM194. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-178.
      Tissue: Testis.
    2. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiERI6B_HUMAN
    AccessioniPrimary (citable) accession number: Q5W0A0
    Secondary accession number(s): Q96MB5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: December 7, 2004
    Last modified: October 1, 2014
    This is version 68 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3