P23610 (F8I2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Factor VIII intron 22 protein

Alternative name(s):
CpG island protein

Gene names

Name:	F8A1
Synonyms:	F8A
AND
Name:	F8A2
Synonyms:	F8A
AND
Name:	F8A3
Synonyms:	F8A

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

General annotation (Comments)

Function	Not known. Possible housekeeping role.
Tissue specificity	Produced abundantly in a wide variety of cell types.
Sequence caution	The sequence AAA35713.1 differs from that shown. Reason: Frameshift at positions 231, 257 and 367.

Ontologies

Keywords
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from direct assay. Source: LIFEdb
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed
	Chain	2 – 371	370	Factor VIII intron 22 protein		PRO_0000087159
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.6
Experimental info
	Sequence conflict	105 – 107	3	RQR → PA in AAA35713. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P23610 [UniParc]. Last modified November 23, 2004. Version 2. Checksum: 0E230A1978FAB59D	FASTA	371	39,103
	10 20 30 40 50 60 MAAAAAGLGG GGAGPGPEAG DFLARYRLVS NKLKKRFLRK PNVAEAGEQF GQLGRELRAQ 70 80 90 100 110 120 ECLPYAAWCQ LAVARCQQAL FHGPGEALAL TEAARLFLRQ ERDARQRLVC PAAYGEPLQA 130 140 150 160 170 180 AASALGAAVR LHLELGQPAA AAALCLELAA ALRDLGQPAA AAGHFQRAAQ LQLPQLPLAA 190 200 210 220 230 240 LQALGEAASC QLLARDYTGA LAVFTRMQRL AREHGSHPVQ SLPPPPPPAP QPGPGATPAL 250 260 270 280 290 300 PAALLPPNSG SAAPSPAALG AFSDVLVRCE VSRVLLLLLL QPPPAKLLPE HAQTLEKYSW 310 320 330 340 350 360 EAFDSHGQES SGQLPEELFL LLQSLVMATH EKDTEAIKSL QVEMWPLLTA EQNHLLHLVL 370 QETISPSGQG V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A transcribed gene in an intron of the human factor VIII gene." Levinson B., Kenwrick S., Lakich D., Hammonds G. Jr., Gitschier J. Genomics 7:1-11(1990) [PubMed: 2110545] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Liver.
[2]	"Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe haemophilia A." Bagnall R.D., Green P.M., Giannelli F. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [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 (SEP-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]. Tissue: Blood and Brain.
[6]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M34677 Genomic DNA. Translation: AAA35713.1. Frameshift. AY619999 Genomic DNA. Translation: AAT44606.1. AY620000 Genomic DNA. Translation: AAT44607.1. AY620001 Genomic DNA. Translation: AAT44608.1. BX276110 Genomic DNA. Translation: CAH71439.1. BX682237 Genomic DNA. Translation: CAI41333.1. BX842559 Genomic DNA. Translation: CAI41669.1. CH471172 Genomic DNA. Translation: EAW72648.1. BC039693 mRNA. Translation: AAH39693.1. BC071963 mRNA. Translation: AAH71963.1.
IPI	IPI00012433.
PIR	B42832.
RefSeq	NP_001007524.1. NM_001007523.1. NP_001007525.1. NM_001007524.1. NP_036283.2. NM_012151.3.
UniGene	Hs.533543. Hs.593687.
3D structure databases
ProteinModelPortal	P23610.
SMR	P23610. Positions 50-77, 85-214.
ModBase	Search...
Protein-protein interaction databases
STRING	P23610.
Proteomic databases
PRIDE	P23610.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369445; ENSP00000358454; ENSG00000185990. ENST00000369446; ENSP00000358456; ENSG00000197932. ENST00000369505; ENSP00000358518; ENSG00000198444.
GeneID	474383. 474384. 8263.
KEGG	hsa:474383. hsa:474384. hsa:8263.
UCSC	uc004fmv.1. human.
Organism-specific databases
CTD	474383. 474384. 8263.
GeneCards	GC0XM154686. GC0XP154114. GC0XP154611.
H-InvDB	HIX0028450.
HGNC	HGNC:3547. F8A1. HGNC:31849. F8A2. HGNC:31850. F8A3.
MIM	305423. gene.
neXtProt	NX_P23610.
PharmGKB	PA27953.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05980.
GeneTree	ENSGT00390000016992.
HOGENOM	HBG445064.
HOVERGEN	HBG005629.
InParanoid	P23610.
OMA	LRKPNVA.
OrthoDB	EOG4TMR2K.
PhylomeDB	P23610.
Gene expression databases
Bgee	P23610.
CleanEx	HS_F8A1. HS_F8A2.
Genevestigator	P23610.
GermOnline	ENSG00000185990. Homo sapiens. ENSG00000197932. Homo sapiens. ENSG00000198444. Homo sapiens.
Family and domain databases
InterPro	IPR011990. TPR-like_helical. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 1 hit.
ProtoNet	Search...
Other
NextBio	111709.
SOURCE	Search...

Entry information

Entry name

F8I2_HUMAN

Accession

Primary (citable) accession number: P23610
Secondary accession number(s): Q5HY66, Q8IXP3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 23, 2004
Last modified:	January 25, 2012
This is version 90 of the entry and version 2 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.