Q71UI9 (H2AV_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Histone H2A.V

Alternative name(s):
H2A.F/Z

Gene names

Name:	H2AFV
Synonyms:	H2AV

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	128 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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.
Subcellular location	Nucleus By similarity. Chromosome By similarity.
Post-translational modification	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.
Sequence similarities	Belongs to the histone H2A family.
Mass spectrometry	Molecular mass is 13369.4 Da from positions 2 - 128. Determined by ESI. Monoisotopic, not modified. Ref.7
Sequence caution	The sequence BAD92238.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Chromosome Nucleosome core Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
PTM	Acetylation Isopeptide bond Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleosome assembly Inferred from electronic annotation. Source: InterPro
Cellular_component	nucleosome Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q71UI9-1)

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: Q71UI9-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q71UI9-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: Q71UI9-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 128	128	Histone H2A.V		PRO_0000239068
Amino acid modifications
	Modified residue	5	1	N6-acetyllysine By similarity
	Modified residue	8	1	N6-acetyllysine By similarity
	Modified residue	12	1	N6-acetyllysine By similarity
	Cross-link	122		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Natural variations
	Alternative sequence	1 – 27	27	MAGGK…RAGLQ → M in isoform 4.		VSP_045232
	Alternative sequence	28 – 65	38	Missing in isoform 3.		VSP_044633
	Alternative sequence	109 – 128	20	GVIPH…QQKTA → EKRRCS in isoform 2.		VSP_042855
	Natural variant	125	1	Q → R. Corresponds to variant rs1802437 [ dbSNP | Ensembl ].		VAR_059312

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 1F3C388F6854041C	FASTA	128	13,509
	10 20 30 40 50 60 MAGGKAGKDS GKAKAKAVSR SQRAGLQFPV GRIHRHLKTR TTSHGRVGAT AAVYSAAILE 70 80 90 100 110 120 YLTAEVLELA GNASKDLKVK RITPRHLQLA IRGDEELDSL IKATIAGGGV IPHIHKSLIG KKGQQKTA
	Isoform 2 [UniParc]. Checksum: 4CF80C91A39397B4	FASTA	114	12,146
	10 20 30 40 50 60 MAGGKAGKDS GKAKAKAVSR SQRAGLQFPV GRIHRHLKTR TTSHGRVGAT AAVYSAAILE 70 80 90 100 110 YLTAEVLELA GNASKDLKVK RITPRHLQLA IRGDEELDSL IKATIAGGEK RRCS
	Isoform 3 [UniParc]. Checksum: 34DA01283B7A93F1	FASTA	90	9,375
	10 20 30 40 50 60 MAGGKAGKDS GKAKAKAVSR SQRAGLQVLE LAGNASKDLK VKRITPRHLQ LAIRGDEELD 70 80 90 SLIKATIAGG GVIPHIHKSL IGKKGQQKTA
	Isoform 4 [UniParc]. Checksum: 0E6071539B4139F9	FASTA	102	10,999
	10 20 30 40 50 60 MFPVGRIHRH LKTRTTSHGR VGATAAVYSA AILEYLTAEV LELAGNASKD LKVKRITPRH 70 80 90 100 LQLAIRGDEE LDSLIKATIA GGGVIPHIHK SLIGKKGQQK TA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton 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].
[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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00018278. IPI00141938. IPI00398798. IPI00398806.
RefSeq	NP_036544.1. NM_012412.4. NP_619541.1. NM_138635.3. NP_958844.1. NM_201436.2. NP_958924.1. NM_201516.2. NP_958925.1. NM_201517.2.
UniGene	Hs.488189. Hs.624870.
3D structure databases
ProteinModelPortal	Q71UI9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q71UI9. 3 interactions.
STRING	9606.ENSP00000308405.
PTM databases
PhosphoSite	Q71UI9.
Polymorphism databases
DMDM	74749787.
Proteomic databases
PaxDb	Q71UI9.
PRIDE	Q71UI9.
Protocols and materials databases
DNASU	94239.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000222690; ENSP00000222690; ENSG00000105968. ENST00000308153; ENSP00000308405; ENSG00000105968. ENST00000349299; ENSP00000342714; ENSG00000105968. ENST00000350771; ENSP00000340708; ENSG00000105968.
GeneID	94239.
KEGG	hsa:94239.
UCSC	uc003tma.2. human.
Organism-specific databases
CTD	94239.
GeneCards	GC07M044833.
HGNC	HGNC:20664. H2AFV.
HPA	HPA045242.
neXtProt	NX_Q71UI9.
PharmGKB	PA134895050.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5262.
HOGENOM	HOG000234652.
HOVERGEN	HBG009342.
InParanoid	Q71UI9.
KO	K11251.
OMA	VHRMLKS.
PhylomeDB	Q71UI9.
Gene expression databases
ArrayExpress	Q71UI9.
Bgee	Q71UI9.
CleanEx	HS_H2AFV.
Genevestigator	Q71UI9.
GermOnline	ENSG00000105968. Homo sapiens.
Family and domain databases
Gene3D	1.10.20.10. 1 hit.
InterPro	IPR009072. Histone-fold. IPR007125. Histone_core_D. IPR002119. Histone_H2A. [Graphical view]
Pfam	PF00125. Histone. 1 hit. [Graphical view]
PRINTS	PR00620. HISTONEH2A.
SMART	SM00414. H2A. 1 hit. [Graphical view]
SUPFAM	SSF47113. Histone-fold. 1 hit.
PROSITE	PS00046. HISTONE_H2A. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	H2AFV. human.
GenomeRNAi	94239.
NextBio	78481.

Entry information

Entry name

H2AV_HUMAN

Accession

Primary (citable) accession number: Q71UI9
Secondary accession number(s): A6NFA8 , A6NKY0, A6NN01, Q59GV8, Q6PK98

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2006
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 95 of the entry and version 3 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.