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Q5W0A0 (F194B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM194B
Gene names
Name:FAM194B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length696 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the FAM194 family.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5W0A0-1)

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.
Isoform 2 (identifier: Q5W0A0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     134-139: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 696696Protein FAM194B
PRO_0000326050

Regions

Compositional bias30 – 198169Glu-rich

Natural variations

Alternative sequence134 – 1396Missing in isoform 2.
VSP_032523
Natural variant631E → D.
Corresponds to variant rs12020217 [ dbSNP | Ensembl ].
VAR_039969
Natural variant991E → G.
Corresponds to variant rs12020731 [ dbSNP | Ensembl ].
VAR_039970
Natural variant1741S → T.
Corresponds to variant rs17066954 [ dbSNP | Ensembl ].
VAR_039971
Natural variant1781E → K. Ref.1
Corresponds to variant rs3014939 [ dbSNP | Ensembl ].
VAR_039972
Natural variant3031L → P.
Corresponds to variant rs11618506 [ dbSNP | Ensembl ].
VAR_039973
Natural variant4271T → I.
Corresponds to variant rs749071 [ dbSNP | Ensembl ].
VAR_039974
Natural variant4391P → R.
Corresponds to variant rs12429125 [ dbSNP | Ensembl ].
VAR_039975
Natural variant4531H → R.
Corresponds to variant rs17066902 [ dbSNP | Ensembl ].
VAR_039976
Natural variant5651R → C.
Corresponds to variant rs7327901 [ dbSNP | Ensembl ].
VAR_039977
Natural variant6531V → F.
Corresponds to variant rs1536207 [ dbSNP | Ensembl ].
VAR_039978

Experimental info

Sequence conflict1011A → V in BAB71393. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 7, 2004. Version 1.
Checksum: E82E8019FB58C9A9

FASTA69681,686
        10         20         30         40         50         60 
MSAENNQLSG ASPPHPPTTP QYSTQNLPSE KEDTEVELDE ESLQDESPFS PEGESLEDKE 

        70         80         90        100        110        120 
YLEEEEDLEE EEYLGKEEYL KEEEYLGKEE HLEEEEYLEK AGYLEEEEYI EEEEYLGKEG 

       130        140        150        160        170        180 
YLEEEEYLGK EEHLEEEEYL GKEGYLEKED YIEEVDYLGK KAYLEEEEYL GKKSYLEEEK 

       190        200        210        220        230        240 
ALEKEENLEE EEALEKEENL DGKENLYKKY LKEPKASYSS QTMLLRDARS PDAGPSQVTT 

       250        260        270        280        290        300 
FLTVPLTFAT PSPVSESATE SSELLLTLYR RSQASQTDWC YDRTAVKSLK SKSETEQETT 

       310        320        330        340        350        360 
TKLAPEEHVN TKVQQKKEEN VLEFASKENF WDGITDESID KLEVEDLDEN FLNSSYQTVF 

       370        380        390        400        410        420 
KTIIKEMAAH NELEEDFDIP LTKLLESENR WKLVIMLKKN YEKFKETILR IKRRREAQKL 

       430        440        450        460        470        480 
TEMTSFTFHL MSKPTPEKPE TEEIQKPQRV VHHRKKLERD KEWIQKKTVV HQGDGKLILY 

       490        500        510        520        530        540 
PNKNVYQILF PDGTGQIHYP SGNLAMLILY AKMKKFTYII LEDSLEGRIR ALINNSGNAT 

       550        560        570        580        590        600 
FYDENSDIWL NLSSNLGYYF PKDKRQKAWN WWNLNIHVHA PPVQPISLKI NEYIQVQIRS 

       610        620        630        640        650        660 
QDKIIFCFTY EQKQICLNLG TRYKFVIPEV LSEMKKKTIL EAEPGPTAQK IRVLLGKMNR 

       670        680        690 
LLNYATTPDL ENFIEAVSIS LMDNKYLKKM LSKLWF 

« Hide

Isoform 2 [UniParc].

Checksum: 3BB417340E8E5E72
Show »

FASTA69080,893

References

[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. expand/collapse author list , 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. expand/collapse author list , 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].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057244 mRNA. Translation: BAB71393.1.
AL139326 Genomic DNA. Translation: CAH72890.1.
RefSeqNP_872348.2. NM_182542.2.
UniGeneHs.668747.

3D structure databases

ProteinModelPortalQ5W0A0.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ5W0A0.

Polymorphism databases

DMDM74747903.

Proteomic databases

PaxDbQ5W0A0.
PRIDEQ5W0A0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298738; ENSP00000298738; ENSG00000165837. [Q5W0A0-1]
GeneID220081.
KEGGhsa:220081.
UCSCuc001val.2. human. [Q5W0A0-1]

Organism-specific databases

CTD220081.
GeneCardsGC13M046115.
HGNCHGNC:26523. FAM194B.
HPACAB034242.
HPA040358.
HPA043559.
neXtProtNX_Q5W0A0.
PharmGKBPA165505094.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG68709.
HOGENOMHOG000155621.
InParanoidQ5W0A0.
OMAMSAENNQ.
OrthoDBEOG70CR8G.
PhylomeDBQ5W0A0.
TreeFamTF350393.

Gene expression databases

BgeeQ5W0A0.
GenevestigatorQ5W0A0.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi220081.
NextBio90980.
PROQ5W0A0.

Entry information

Entry nameF194B_HUMAN
AccessionPrimary (citable) accession number: Q5W0A0
Secondary accession number(s): Q96MB5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: December 7, 2004
Last modified: March 19, 2014
This is version 64 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM