Q5VST6 (F108B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Abhydrolase domain-containing protein FAM108B1
EC=3.-.-.-

Gene names

Name:	FAM108B1
Synonyms:	C9orf77
ORF Names:	CGI-67

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	288 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Secreted Potential.
Sequence similarities	Belongs to the AB hydrolase superfamily. FAM108 family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5VST6-1)

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: Q5VST6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     287-288: NL → QKHKEGK

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 288	268	Abhydrolase domain-containing protein FAM108B1		PRO_0000281111
Sites
	Active site	170	1	Charge relay system By similarity
	Active site	235	1	Charge relay system By similarity
	Active site	264	1	Charge relay system By similarity
Natural variations
	Alternative sequence	287 – 288	2	NL → QKHKEGK in isoform 2.		VSP_023975
	Natural variant	154	1	R → K. Corresponds to variant rs12380380 [ dbSNP | Ensembl ].		VAR_054080
	Natural variant	169	1	Q → K. Ref.5 Corresponds to variant rs17854317 [ dbSNP | Ensembl ].		VAR_031230
Experimental info
	Sequence conflict	18 – 21	4	CPGK → LSGE in AAD34062. Ref.1
	Sequence conflict	43 – 44	2	GS → RT in AAD34062. Ref.1
	Sequence conflict	207	1	K → E in AAD34062. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 7, 2004. Version 1. Checksum: F315AF711AF532BD	FASTA	288	32,215
	10 20 30 40 50 60 MNNLSFSELC CLFCCPPCPG KIASKLAFLP PDPTYTLMCD ESGSRWTLHL SERADWQYSS 70 80 90 100 110 120 REKDAIECFM TRTSKGNRIA CMFVRCSPNA KYTLLFSHGN AVDLGQMSSF YIGLGSRINC 130 140 150 160 170 180 NIFSYDYSGY GASSGKPTEK NLYADIEAAW LALRTRYGIR PENVIIYGQS IGTVPSVDLA 190 200 210 220 230 240 ARYESAAVIL HSPLTSGMRV AFPDTKKTYC FDAFPNIDKI SKITSPVLII HGTEDEVIDF 250 260 270 280 SHGLALFERC QRPVEPLWVE GAGHNDVELY GQYLERLKQF VSQELVNL
	Isoform 2 [UniParc]. Checksum: 239D054DAE87173F	FASTA	293	32,823
	10 20 30 40 50 60 MNNLSFSELC CLFCCPPCPG KIASKLAFLP PDPTYTLMCD ESGSRWTLHL SERADWQYSS 70 80 90 100 110 120 REKDAIECFM TRTSKGNRIA CMFVRCSPNA KYTLLFSHGN AVDLGQMSSF YIGLGSRINC 130 140 150 160 170 180 NIFSYDYSGY GASSGKPTEK NLYADIEAAW LALRTRYGIR PENVIIYGQS IGTVPSVDLA 190 200 210 220 230 240 ARYESAAVIL HSPLTSGMRV AFPDTKKTYC FDAFPNIDKI SKITSPVLII HGTEDEVIDF 250 260 270 280 290 SHGLALFERC QRPVEPLWVE GAGHNDVELY GQYLERLKQF VSQELVQKHK EGK

References

[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Uterus.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-169. Tissue: Brain and Skin.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF151825 mRNA. Translation: AAD34062.1. AK293060 mRNA. Translation: BAF85749.1. AL138751, AL671309 Genomic DNA. Translation: CAH72763.1. AL138751, AL671309 Genomic DNA. Translation: CAH72764.1. AL671309, AL138751 Genomic DNA. Translation: CAH73542.1. AL671309, AL138751 Genomic DNA. Translation: CAH73543.1. CH471089 Genomic DNA. Translation: EAW62521.1. BC038390 mRNA. Translation: AAH38390.2. BC044576 mRNA. Translation: AAH44576.1.
IPI	IPI00412592. IPI00643071.
RefSeq	NP_001020951.1. NM_001025780.1. NP_057098.2. NM_016014.2.
UniGene	Hs.380389.
3D structure databases
ProteinModelPortal	Q5VST6.
SMR	Q5VST6. Positions 88-194.
ModBase	Search...
Protein family/group databases
MEROPS	S09.055.
PTM databases
PhosphoSite	Q5VST6.
Polymorphism databases
DMDM	74746845.
Proteomic databases
PRIDE	Q5VST6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333421; ENSP00000330222; ENSG00000107362.
GeneID	51104.
KEGG	hsa:51104.
UCSC	uc004ail.1. human. uc004aim.1. human.
Organism-specific databases
CTD	51104.
GeneCards	GC09M074477.
H-InvDB	HIX0025709.
HGNC	HGNC:24278. FAM108B1.
HPA	HPA047862.
neXtProt	NX_Q5VST6.
PharmGKB	PA162385624.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10895.
GeneTree	ENSGT00390000000948.
HOVERGEN	HBG061270.
OMA	QPMERAR.
OrthoDB	EOG46MBK6.
PhylomeDB	Q5VST6.
Gene expression databases
ArrayExpress	Q5VST6.
Bgee	Q5VST6.
CleanEx	HS_FAM108B1.
Genevestigator	Q5VST6.
Family and domain databases
ProtoNet	Search...
Other
NextBio	53827.

Entry information

Entry name

F108B_HUMAN

Accession

Primary (citable) accession number: Q5VST6
Secondary accession number(s): A8KAJ5 , Q5VST7, Q86YB6, Q8IY03, Q9Y377

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	December 7, 2004
Last modified:	January 25, 2012
This is version 72 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.