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Q71UI9

- H2AV_HUMAN

UniProt

Q71UI9 - H2AV_HUMAN

Protein

Histone H2A.V

Gene

H2AFV

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. nucleosome assembly Source: InterPro

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Histone H2A.V
    Alternative name(s):
    H2A.F/Z
    Gene namesi
    Name:H2AFV
    Synonyms:H2AV
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:20664. H2AFV.

    Subcellular locationi

    Nucleus By similarity. Chromosome By similarity

    GO - Cellular componenti

    1. nucleosome Source: UniProtKB-KW
    2. nucleus Source: UniProt

    Keywords - Cellular componenti

    Chromosome, Nucleosome core, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134895050.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 128128Histone H2A.VPRO_0000239068Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei5 – 51N6-acetyllysineBy similarity
    Modified residuei8 – 81N6-acetyllysineBy similarity
    Modified residuei12 – 121N6-acetyllysineBy similarity
    Cross-linki122 – 122Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

    Post-translational modificationi

    Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.By similarity
    Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis By similarity.By similarity

    Keywords - PTMi

    Acetylation, Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiQ71UI9.
    PaxDbiQ71UI9.
    PRIDEiQ71UI9.

    PTM databases

    PhosphoSiteiQ71UI9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ71UI9.
    BgeeiQ71UI9.
    CleanExiHS_H2AFV.
    GenevestigatoriQ71UI9.

    Organism-specific databases

    HPAiHPA045242.

    Interactioni

    Subunit structurei

    The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. H2A or its variant H2AFV forms a heterodimer with H2B By similarity.By similarity

    Protein-protein interaction databases

    BioGridi125150. 28 interactions.
    IntActiQ71UI9. 3 interactions.
    MINTiMINT-4828370.
    STRINGi9606.ENSP00000308405.

    Structurei

    Secondary structure

    1
    128
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi20 – 234
    Helixi30 – 389
    Helixi49 – 7527
    Turni76 – 783
    Beta strandi80 – 823
    Helixi84 – 9310
    Helixi95 – 1006
    Beta strandi103 – 1053
    Helixi116 – 1183

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3WAAX-ray3.20C/G1-128[»]
    ProteinModelPortaliQ71UI9.
    SMRiQ71UI9. Positions 15-121.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the histone H2A family.Curated

    Phylogenomic databases

    eggNOGiCOG5262.
    HOGENOMiHOG000234652.
    HOVERGENiHBG009342.
    InParanoidiQ71UI9.
    KOiK11251.
    PhylomeDBiQ71UI9.
    TreeFamiTF354232.

    Family and domain databases

    Gene3Di1.10.20.10. 1 hit.
    InterProiIPR009072. Histone-fold.
    IPR007125. Histone_core_D.
    IPR002119. Histone_H2A.
    [Graphical view]
    PfamiPF00125. Histone. 1 hit.
    [Graphical view]
    PRINTSiPR00620. HISTONEH2A.
    SMARTiSM00414. H2A. 1 hit.
    [Graphical view]
    SUPFAMiSSF47113. SSF47113. 1 hit.
    PROSITEiPS00046. HISTONE_H2A. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q71UI9-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAGGKAGKDS GKAKAKAVSR SQRAGLQFPV GRIHRHLKTR TTSHGRVGAT    50
    AAVYSAAILE YLTAEVLELA GNASKDLKVK RITPRHLQLA IRGDEELDSL 100
    IKATIAGGGV IPHIHKSLIG KKGQQKTA 128
    Length:128
    Mass (Da):13,509
    Last modified:January 23, 2007 - v3
    Checksum:i1F3C388F6854041C
    GO
    Isoform 2 (identifier: Q71UI9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         109-128: GVIPHIHKSLIGKKGQQKTA → EKRRCS

    Note: No experimental confirmation available.

    Show »
    Length:114
    Mass (Da):12,146
    Checksum:i4CF80C91A39397B4
    GO
    Isoform 3 (identifier: Q71UI9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         28-65: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:90
    Mass (Da):9,375
    Checksum:i34DA01283B7A93F1
    GO
    Isoform 4 (identifier: Q71UI9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-27: MAGGKAGKDSGKAKAKAVSRSQRAGLQ → M

    Note: No experimental confirmation available.

    Show »
    Length:102
    Mass (Da):10,999
    Checksum:i0E6071539B4139F9
    GO
    Isoform 5 (identifier: Q71UI9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         67-128: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:66
    Mass (Da):6,892
    Checksum:i90DA3A9820A88CB0
    GO

    Sequence cautioni

    The sequence BAD92238.1 differs from that shown. Reason: Erroneous initiation.

    Mass spectrometryi

    Molecular mass is 13369.4 Da from positions 2 - 128. Determined by ESI. Monoisotopic, not modified.1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti125 – 1251Q → R.
    Corresponds to variant rs1802437 [ dbSNP | Ensembl ].
    VAR_059312

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2727MAGGK…RAGLQ → M in isoform 4. 1 PublicationVSP_045232Add
    BLAST
    Alternative sequencei28 – 6538Missing in isoform 3. 1 PublicationVSP_044633Add
    BLAST
    Alternative sequencei67 – 12862Missing in isoform 5. CuratedVSP_046783Add
    BLAST
    Alternative sequencei109 – 12820GVIPH…QQKTA → EKRRCS in isoform 2. 1 PublicationVSP_042855Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF081192 mRNA. Translation: AAC31938.1.
    AK023973 mRNA. Translation: BAG51243.1.
    AB209001 mRNA. Translation: BAD92238.1. Different initiation.
    AC004854 Genomic DNA. Translation: AAS00365.1.
    CH471128 Genomic DNA. Translation: EAW61075.1.
    CH471128 Genomic DNA. Translation: EAW61077.1.
    BC000098 mRNA. Translation: AAH00098.1.
    BC004274 mRNA. Translation: AAH04274.3.
    BC014885 mRNA. Translation: AAH14885.1.
    BC070169 mRNA. Translation: AAH70169.1.
    BE742590 mRNA. No translation available.
    BU543626 mRNA. No translation available.
    CCDSiCCDS47581.1. [Q71UI9-5]
    CCDS5495.1. [Q71UI9-2]
    CCDS5496.1. [Q71UI9-1]
    CCDS5497.1. [Q71UI9-4]
    CCDS5498.1. [Q71UI9-3]
    RefSeqiNP_036544.1. NM_012412.4. [Q71UI9-1]
    NP_619541.1. NM_138635.3. [Q71UI9-2]
    NP_958844.1. NM_201436.2. [Q71UI9-4]
    NP_958924.1. NM_201516.2. [Q71UI9-5]
    NP_958925.1. NM_201517.2. [Q71UI9-3]
    UniGeneiHs.488189.

    Genome annotation databases

    EnsembliENST00000222690; ENSP00000222690; ENSG00000105968. [Q71UI9-2]
    ENST00000308153; ENSP00000308405; ENSG00000105968. [Q71UI9-1]
    ENST00000349299; ENSP00000342714; ENSG00000105968. [Q71UI9-3]
    ENST00000350771; ENSP00000340708; ENSG00000105968. [Q71UI9-4]
    ENST00000381124; ENSP00000370516; ENSG00000105968. [Q71UI9-5]
    GeneIDi94239.
    KEGGihsa:94239.
    UCSCiuc003tlz.2. human. [Q71UI9-2]
    uc003tma.2. human. [Q71UI9-1]
    uc003tmb.2. human.

    Polymorphism databases

    DMDMi74749787.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF081192 mRNA. Translation: AAC31938.1 .
    AK023973 mRNA. Translation: BAG51243.1 .
    AB209001 mRNA. Translation: BAD92238.1 . Different initiation.
    AC004854 Genomic DNA. Translation: AAS00365.1 .
    CH471128 Genomic DNA. Translation: EAW61075.1 .
    CH471128 Genomic DNA. Translation: EAW61077.1 .
    BC000098 mRNA. Translation: AAH00098.1 .
    BC004274 mRNA. Translation: AAH04274.3 .
    BC014885 mRNA. Translation: AAH14885.1 .
    BC070169 mRNA. Translation: AAH70169.1 .
    BE742590 mRNA. No translation available.
    BU543626 mRNA. No translation available.
    CCDSi CCDS47581.1. [Q71UI9-5 ]
    CCDS5495.1. [Q71UI9-2 ]
    CCDS5496.1. [Q71UI9-1 ]
    CCDS5497.1. [Q71UI9-4 ]
    CCDS5498.1. [Q71UI9-3 ]
    RefSeqi NP_036544.1. NM_012412.4. [Q71UI9-1 ]
    NP_619541.1. NM_138635.3. [Q71UI9-2 ]
    NP_958844.1. NM_201436.2. [Q71UI9-4 ]
    NP_958924.1. NM_201516.2. [Q71UI9-5 ]
    NP_958925.1. NM_201517.2. [Q71UI9-3 ]
    UniGenei Hs.488189.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3WAA X-ray 3.20 C/G 1-128 [» ]
    ProteinModelPortali Q71UI9.
    SMRi Q71UI9. Positions 15-121.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125150. 28 interactions.
    IntActi Q71UI9. 3 interactions.
    MINTi MINT-4828370.
    STRINGi 9606.ENSP00000308405.

    PTM databases

    PhosphoSitei Q71UI9.

    Polymorphism databases

    DMDMi 74749787.

    Proteomic databases

    MaxQBi Q71UI9.
    PaxDbi Q71UI9.
    PRIDEi Q71UI9.

    Protocols and materials databases

    DNASUi 94239.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222690 ; ENSP00000222690 ; ENSG00000105968 . [Q71UI9-2 ]
    ENST00000308153 ; ENSP00000308405 ; ENSG00000105968 . [Q71UI9-1 ]
    ENST00000349299 ; ENSP00000342714 ; ENSG00000105968 . [Q71UI9-3 ]
    ENST00000350771 ; ENSP00000340708 ; ENSG00000105968 . [Q71UI9-4 ]
    ENST00000381124 ; ENSP00000370516 ; ENSG00000105968 . [Q71UI9-5 ]
    GeneIDi 94239.
    KEGGi hsa:94239.
    UCSCi uc003tlz.2. human. [Q71UI9-2 ]
    uc003tma.2. human. [Q71UI9-1 ]
    uc003tmb.2. human.

    Organism-specific databases

    CTDi 94239.
    GeneCardsi GC07M044833.
    HGNCi HGNC:20664. H2AFV.
    HPAi HPA045242.
    neXtProti NX_Q71UI9.
    PharmGKBi PA134895050.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5262.
    HOGENOMi HOG000234652.
    HOVERGENi HBG009342.
    InParanoidi Q71UI9.
    KOi K11251.
    PhylomeDBi Q71UI9.
    TreeFami TF354232.

    Miscellaneous databases

    ChiTaRSi H2AFV. human.
    GeneWikii H2AFV.
    GenomeRNAii 94239.
    NextBioi 78481.
    PROi Q71UI9.

    Gene expression databases

    ArrayExpressi Q71UI9.
    Bgeei Q71UI9.
    CleanExi HS_H2AFV.
    Genevestigatori Q71UI9.

    Family and domain databases

    Gene3Di 1.10.20.10. 1 hit.
    InterProi IPR009072. Histone-fold.
    IPR007125. Histone_core_D.
    IPR002119. Histone_H2A.
    [Graphical view ]
    Pfami PF00125. Histone. 1 hit.
    [Graphical view ]
    PRINTSi PR00620. HISTONEH2A.
    SMARTi SM00414. H2A. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47113. SSF47113. 1 hit.
    PROSITEi PS00046. HISTONE_H2A. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Novel human member of the variant histone family."
      Groitl P., Wolf H., Niller H.H.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1; 3 AND 4).
      Tissue: Kidney, Ovarian adenocarcinoma, Prostatic carcinoma, Skin and Uterus.
    7. "Precise characterization of human histones in the H2A gene family by top down mass spectrometry."
      Boyne M.T. II, Pesavento J.J., Mizzen C.A., Kelleher N.L.
      J. Proteome Res. 5:248-253(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: MASS SPECTROMETRY.

    Entry informationi

    Entry nameiH2AV_HUMAN
    AccessioniPrimary (citable) accession number: Q71UI9
    Secondary accession number(s): A6NFA8
    , A6NKY0, A6NN01, A8MQC5, Q59GV8, Q6PK98
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 106 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3