Q5W0A0 (F194B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM194B

Gene names

Name:

FAM194B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	696 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the FAM194 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 696	696	Protein FAM194B		PRO_0000326050
Regions
	Compositional bias	30 – 198	169	Glu-rich
Natural variations
	Alternative sequence	134 – 139	6	Missing in isoform 2.		VSP_032523
	Natural variant	63	1	E → D. Corresponds to variant rs12020217 [ dbSNP | Ensembl ].		VAR_039969
	Natural variant	99	1	E → G. Corresponds to variant rs12020731 [ dbSNP | Ensembl ].		VAR_039970
	Natural variant	174	1	S → T. Corresponds to variant rs17066954 [ dbSNP | Ensembl ].		VAR_039971
	Natural variant	178	1	E → K. Ref.1 Corresponds to variant rs3014939 [ dbSNP | Ensembl ].		VAR_039972
	Natural variant	303	1	L → P. Corresponds to variant rs11618506 [ dbSNP | Ensembl ].		VAR_039973
	Natural variant	427	1	T → I. Corresponds to variant rs749071 [ dbSNP | Ensembl ].		VAR_039974
	Natural variant	439	1	P → R. Corresponds to variant rs12429125 [ dbSNP | Ensembl ].		VAR_039975
	Natural variant	453	1	H → R. Corresponds to variant rs17066902 [ dbSNP | Ensembl ].		VAR_039976
	Natural variant	565	1	R → C. Corresponds to variant rs7327901 [ dbSNP | Ensembl ].		VAR_039977
	Natural variant	653	1	V → F. Corresponds to variant rs1536207 [ dbSNP | Ensembl ].		VAR_039978
Experimental info
	Sequence conflict	101	1	A → V in BAB71393. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 7, 2004. Version 1. Checksum: E82E8019FB58C9A9	FASTA	696	81,686
	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
	Isoform 2 [UniParc]. Checksum: 3BB417340E8E5E72	FASTA	690	80,893
	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 EEHLGKEGYL EKEDYIEEVD YLGKKAYLEE EEYLGKKSYL EEEKALEKEE 190 200 210 220 230 240 NLEEEEALEK EENLDGKENL YKKYLKEPKA SYSSQTMLLR DARSPDAGPS QVTTFLTVPL 250 260 270 280 290 300 TFATPSPVSE SATESSELLL TLYRRSQASQ TDWCYDRTAV KSLKSKSETE QETTTKLAPE 310 320 330 340 350 360 EHVNTKVQQK KEENVLEFAS KENFWDGITD ESIDKLEVED LDENFLNSSY QTVFKTIIKE 370 380 390 400 410 420 MAAHNELEED FDIPLTKLLE SENRWKLVIM LKKNYEKFKE TILRIKRRRE AQKLTEMTSF 430 440 450 460 470 480 TFHLMSKPTP EKPETEEIQK PQRVVHHRKK LERDKEWIQK KTVVHQGDGK LILYPNKNVY 490 500 510 520 530 540 QILFPDGTGQ IHYPSGNLAM LILYAKMKKF TYIILEDSLE GRIRALINNS GNATFYDENS 550 560 570 580 590 600 DIWLNLSSNL GYYFPKDKRQ KAWNWWNLNI HVHAPPVQPI SLKINEYIQV QIRSQDKIIF 610 620 630 640 650 660 CFTYEQKQIC LNLGTRYKFV IPEVLSEMKK KTILEAEPGP TAQKIRVLLG KMNRLLNYAT 670 680 690 TPDLENFIEA VSISLMDNKY LKKMLSKLWF

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. , 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].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057244 mRNA. Translation: BAB71393.1. AL139326 Genomic DNA. Translation: CAH72890.1.
IPI	IPI00065457. IPI00887167.
RefSeq	NP_872348.2. NM_182542.2.
UniGene	Hs.668747.
3D structure databases
ProteinModelPortal	Q5W0A0.
ModBase	Search...
PTM databases
PhosphoSite	Q5W0A0.
Polymorphism databases
DMDM	74747903.
Proteomic databases
PaxDb	Q5W0A0.
PRIDE	Q5W0A0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000298738; ENSP00000298738; ENSG00000165837.
GeneID	220081.
KEGG	hsa:220081.
UCSC	uc001val.2. human.
Organism-specific databases
CTD	220081.
GeneCards	GC13M046115.
HGNC	HGNC:26523. FAM194B.
HPA	CAB034242. HPA040358. HPA043559.
neXtProt	NX_Q5W0A0.
PharmGKB	PA165505094.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG68709.
HOGENOM	HOG000155621.
InParanoid	Q5W0A0.
OMA	MSAENNQ.
OrthoDB	EOG4D26PR.
PhylomeDB	Q5W0A0.
Gene expression databases
Bgee	Q5W0A0.
Genevestigator	Q5W0A0.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	220081.
NextBio	90980.

Entry information

Entry name

F194B_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.