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H2AFV H2A histone family member V [ Homo sapiens (human) ]

Gene ID: 94239, updated on 8-May-2016
Official Symbol
H2AFVprovided by HGNC
Official Full Name
H2A histone family member Vprovided by HGNC
Primary source
HGNC:HGNC:20664
See related
Ensembl:ENSG00000105968 HPRD:13623; Vega:OTTHUMG00000129217
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H2AV; H2A.Z-2
Summary
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]
Orthologs
Location:
7p13
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (44826889..44848126, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44866488..44887725, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A Neighboring gene uncharacterized LOC105375260 Neighboring gene uncharacterized LOC105375261 Neighboring gene collagen alpha-1(I) chain-like

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat peptides bind core histones H2A, H2B, H3 and H4, and Tat protein recruits histone acetyltransferases to the HIV-1 LTR promoter leading to acetylation of histones H3 and H4, derepressing chromatin structure and increasing NFkappaB responsiveness PubMed

Go to the HIV-1, Human Interaction Database

  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1947, FLJ26479, MGC10170, MGC10831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
molecular_function ND
No biological Data available
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
chromatin silencing IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleosome IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
histone H2A.V
Names
H2A histone family, member V
H2A.F/Z
histone H2A.F/Z
purine-rich binding element protein B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012412.4NP_036544.1  histone H2A.V isoform 1

    See identical proteins and their annotated locations for NP_036544.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
    Source sequence(s)
    AB209001, BM850777, DB460745
    Consensus CDS
    CCDS5496.1
    UniProtKB/Swiss-Prot
    Q71UI9
    Related
    ENSP00000308405, OTTHUMP00000159513, ENST00000308153, OTTHUMT00000251305
    Conserved Domains (2) summary
    PTZ00017
    Location:3128
    PTZ00017; histone H2A; Provisional
    cd00074
    Location:8122
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...
  2. NM_138635.3NP_619541.1  histone H2A.V isoform 2

    See identical proteins and their annotated locations for NP_619541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) utilizes an alternate exon in the 3' coding region and 3' UTR, compared to variant 1. It encodes a shorter protein (isoform 2) compared to that encoded by variant 1.
    Source sequence(s)
    AB209001, AC004854, AK023973, DA456475, DB460745
    Consensus CDS
    CCDS5495.1
    UniProtKB/Swiss-Prot
    Q71UI9
    Related
    ENSP00000222690, OTTHUMP00000159512, ENST00000222690, OTTHUMT00000251304
    Conserved Domains (1) summary
    cd00074
    Location:8108
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...
  3. NM_201436.2NP_958844.1  histone H2A.V isoform 3

    See identical proteins and their annotated locations for NP_958844.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.
    Source sequence(s)
    AB209001, BM850777, DB460745
    Consensus CDS
    CCDS5497.1
    UniProtKB/Swiss-Prot
    Q71UI9
    Related
    ENSP00000340708, OTTHUMP00000159514, ENST00000350771, OTTHUMT00000251306
    Conserved Domains (1) summary
    cd00074
    Location:296
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...
  4. NM_201516.2NP_958924.1  histone H2A.V isoform 4

    See identical proteins and their annotated locations for NP_958924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a 3' exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 4) compared to isoform 1.
    Source sequence(s)
    AB209001, BM850777, DB460745
    Consensus CDS
    CCDS47581.1
    UniProtKB/Swiss-Prot
    Q71UI9
    Related
    ENSP00000370516, OTTHUMP00000225453, ENST00000381124, OTTHUMT00000376523
    Conserved Domains (1) summary
    cl00074
    Location:666
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...
  5. NM_201517.2NP_958925.1  histone H2A.V isoform 5

    See identical proteins and their annotated locations for NP_958925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 5) compared to isoform 1.
    Source sequence(s)
    AB209001, BM850777, DB460745
    Consensus CDS
    CCDS5498.1
    UniProtKB/Swiss-Prot
    Q71UI9
    Related
    ENSP00000342714, OTTHUMP00000159536, ENST00000349299, OTTHUMT00000251330
    Conserved Domains (2) summary
    PTZ00017
    Location:390
    PTZ00017; histone H2A; Provisional
    cl00074
    Location:884
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    44826889..44848126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    44870854..44892091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)