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Protein

Factor VIII intron 22 protein

Gene

F8A1

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

Functioni

Not known. Possible housekeeping role.

Names & Taxonomyi

Protein namesi
Recommended name:
Factor VIII intron 22 protein
Alternative name(s):
CpG island protein
Gene namesi
Name:F8A1
Synonyms:F8A
AND
Name:F8A2
Synonyms:F8A
AND
Name:F8A3
Synonyms:F8A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:3547. F8A1.
HGNC:31849. F8A2.
HGNC:31850. F8A3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27953.

Polymorphism and mutation databases

BioMutaiF8A1.
DMDMi55977780.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 371370Factor VIII intron 22 proteinPRO_0000087159Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP23610.
MaxQBiP23610.
PaxDbiP23610.
PRIDEiP23610.

PTM databases

PhosphoSiteiP23610.

Expressioni

Tissue specificityi

Produced abundantly in a wide variety of cell types.

Gene expression databases

BgeeiP23610.
CleanExiHS_F8A1.
HS_F8A2.
GenevisibleiP23610. HS.

Organism-specific databases

HPAiHPA046960.

Interactioni

Protein-protein interaction databases

BioGridi113884. 4 interactions.
IntActiP23610. 2 interactions.
MINTiMINT-4720691.
STRINGi9606.ENSP00000358518.

Structurei

3D structure databases

ProteinModelPortaliP23610.
SMRiP23610. Positions 121-213.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IHT1. Eukaryota.
ENOG410XSGC. LUCA.
GeneTreeiENSGT00390000016992.
HOGENOMiHOG000232189.
HOVERGENiHBG005629.
InParanoidiP23610.
OMAiMARCEQT.
OrthoDBiEOG7HTHHH.
PhylomeDBiP23610.
TreeFamiTF313929.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR011990. TPR-like_helical_dom.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P23610-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAAAAGLGG GGAGPGPEAG DFLARYRLVS NKLKKRFLRK PNVAEAGEQF
60 70 80 90 100
GQLGRELRAQ ECLPYAAWCQ LAVARCQQAL FHGPGEALAL TEAARLFLRQ
110 120 130 140 150
ERDARQRLVC PAAYGEPLQA AASALGAAVR LHLELGQPAA AAALCLELAA
160 170 180 190 200
ALRDLGQPAA AAGHFQRAAQ LQLPQLPLAA LQALGEAASC QLLARDYTGA
210 220 230 240 250
LAVFTRMQRL AREHGSHPVQ SLPPPPPPAP QPGPGATPAL PAALLPPNSG
260 270 280 290 300
SAAPSPAALG AFSDVLVRCE VSRVLLLLLL QPPPAKLLPE HAQTLEKYSW
310 320 330 340 350
EAFDSHGQES SGQLPEELFL LLQSLVMATH EKDTEAIKSL QVEMWPLLTA
360 370
EQNHLLHLVL QETISPSGQG V
Length:371
Mass (Da):39,103
Last modified:November 23, 2004 - v2
Checksum:i0E230A1978FAB59D
GO

Sequence cautioni

The sequence AAA35713.1 differs from that shown. Reason: Frameshift at positions 231, 257 and 367. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti105 – 1073RQR → PA in AAA35713 (PubMed:2110545).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS35459.1.
CCDS35462.1.
CCDS35463.1.
PIRiB42832.
RefSeqiNP_001007524.1. NM_001007523.1.
NP_001007525.1. NM_001007524.1.
NP_036283.2. NM_012151.3.
UniGeneiHs.533543.
Hs.731793.

Genome annotation databases

EnsembliENST00000369505; ENSP00000358518; ENSG00000274791.
ENST00000610495; ENSP00000479624; ENSG00000277203.
ENST00000622749; ENSP00000477530; ENSG00000277150.
GeneIDi474383.
474384.
8263.
KEGGihsa:474383.
hsa:474384.
hsa:8263.
UCSCiuc004fmv.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS35459.1.
CCDS35462.1.
CCDS35463.1.
PIRiB42832.
RefSeqiNP_001007524.1. NM_001007523.1.
NP_001007525.1. NM_001007524.1.
NP_036283.2. NM_012151.3.
UniGeneiHs.533543.
Hs.731793.

3D structure databases

ProteinModelPortaliP23610.
SMRiP23610. Positions 121-213.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113884. 4 interactions.
IntActiP23610. 2 interactions.
MINTiMINT-4720691.
STRINGi9606.ENSP00000358518.

PTM databases

PhosphoSiteiP23610.

Polymorphism and mutation databases

BioMutaiF8A1.
DMDMi55977780.

Proteomic databases

EPDiP23610.
MaxQBiP23610.
PaxDbiP23610.
PRIDEiP23610.

Protocols and materials databases

DNASUi474384.
8263.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369505; ENSP00000358518; ENSG00000274791.
ENST00000610495; ENSP00000479624; ENSG00000277203.
ENST00000622749; ENSP00000477530; ENSG00000277150.
GeneIDi474383.
474384.
8263.
KEGGihsa:474383.
hsa:474384.
hsa:8263.
UCSCiuc004fmv.4. human.

Organism-specific databases

CTDi474383.
474384.
8263.
GeneCardsiF8A1.
F8A2.
F8A3.
HGNCiHGNC:3547. F8A1.
HGNC:31849. F8A2.
HGNC:31850. F8A3.
HPAiHPA046960.
MIMi305423. gene.
neXtProtiNX_P23610.
PharmGKBiPA27953.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHT1. Eukaryota.
ENOG410XSGC. LUCA.
GeneTreeiENSGT00390000016992.
HOGENOMiHOG000232189.
HOVERGENiHBG005629.
InParanoidiP23610.
OMAiMARCEQT.
OrthoDBiEOG7HTHHH.
PhylomeDBiP23610.
TreeFamiTF313929.

Miscellaneous databases

ChiTaRSiF8A3. human.
GeneWikiiF8A1.
NextBioi111709.
PROiP23610.
SOURCEiSearch...

Gene expression databases

BgeeiP23610.
CleanExiHS_F8A1.
HS_F8A2.
GenevisibleiP23610. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR011990. TPR-like_helical_dom.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiF8I2_HUMAN
AccessioniPrimary (citable) accession number: P23610
Secondary accession number(s): Q5HY66, Q8IXP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 23, 2004
Last modified: April 13, 2016
This is version 131 of the entry and version 2 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.