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Q5W0A0

- ERI6B_HUMAN

UniProt

Q5W0A0 - ERI6B_HUMAN

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Protein

Glutamate-rich protein 6B

Gene

ERICH6B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

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.
GeneTreeiENSGT00530000064027.
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

        10         20         30         40         50
MSAENNQLSG ASPPHPPTTP QYSTQNLPSE KEDTEVELDE ESLQDESPFS
60 70 80 90 100
PEGESLEDKE YLEEEEDLEE EEYLGKEEYL KEEEYLGKEE HLEEEEYLEK
110 120 130 140 150
AGYLEEEEYI EEEEYLGKEG YLEEEEYLGK EEHLEEEEYL GKEGYLEKED
160 170 180 190 200
YIEEVDYLGK KAYLEEEEYL GKKSYLEEEK ALEKEENLEE EEALEKEENL
210 220 230 240 250
DGKENLYKKY LKEPKASYSS QTMLLRDARS PDAGPSQVTT FLTVPLTFAT
260 270 280 290 300
PSPVSESATE SSELLLTLYR RSQASQTDWC YDRTAVKSLK SKSETEQETT
310 320 330 340 350
TKLAPEEHVN TKVQQKKEEN VLEFASKENF WDGITDESID KLEVEDLDEN
360 370 380 390 400
FLNSSYQTVF KTIIKEMAAH NELEEDFDIP LTKLLESENR WKLVIMLKKN
410 420 430 440 450
YEKFKETILR IKRRREAQKL TEMTSFTFHL MSKPTPEKPE TEEIQKPQRV
460 470 480 490 500
VHHRKKLERD KEWIQKKTVV HQGDGKLILY PNKNVYQILF PDGTGQIHYP
510 520 530 540 550
SGNLAMLILY AKMKKFTYII LEDSLEGRIR ALINNSGNAT FYDENSDIWL
560 570 580 590 600
NLSSNLGYYF PKDKRQKAWN WWNLNIHVHA PPVQPISLKI NEYIQVQIRS
610 620 630 640 650
QDKIIFCFTY EQKQICLNLG TRYKFVIPEV LSEMKKKTIL EAEPGPTAQK
660 670 680 690
IRVLLGKMNR LLNYATTPDL ENFIEAVSIS LMDNKYLKKM LSKLWF
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 GC13M046108.
HGNCi HGNC:26523. ERICH6B.
HPAi CAB034242.
HPA040358.
HPA043559.
neXtProti NX_Q5W0A0.
PharmGKBi PA165505094.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG68709.
GeneTreei ENSGT00530000064027.
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 29, 2014
This is version 69 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