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VPS72 vacuolar protein sorting 72 homolog [ Homo sapiens (human) ]

Gene ID: 6944, updated on 13-Mar-2020

Summary

Official Symbol
VPS72provided by HGNC
Official Full Name
vacuolar protein sorting 72 homologprovided by HGNC
Primary source
HGNC:HGNC:11644
See related
Ensembl:ENSG00000163159 MIM:600607
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
YL1; CFL1; Swc2; YL-1; TCFL1
Summary
The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in brain (RPKM 14.7), prostate (RPKM 14.0) and 25 other tissues See more
Orthologs

Genomic context

See VPS72 in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (151176304..151190210, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151148776..151162689, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNFAIP8L2-SCNM1 readthrough Neighboring gene LysM domain containing 1 Neighboring gene TNF alpha induced protein 8 like 2 Neighboring gene sodium channel modifier 1 Neighboring gene tropomodulin 4 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 alpha Neighboring gene Sharpr-MPRA regulatory region 10214 Neighboring gene proteasome 26S subunit, non-ATPase 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
histone exchange IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone exchange IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 72 homolog
Names
transcription factor-like 1
transformation suppressor gene YL-1

NCBI Reference Sequences (RefSeq)

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_001271087.2NP_001258016.1  vacuolar protein sorting-associated protein 72 homolog isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA128103, AW194498, BU539181, CX163016, DQ655941
    Consensus CDS
    CCDS59201.1
    UniProtKB/Swiss-Prot
    Q15906
    Related
    ENSP00000346464.4, ENST00000354473.4
    Conserved Domains (3) summary
    pfam04180
    Location:2278
    LTV; Low temperature viability protein
    pfam05764
    Location:6216
    YL1; YL1 nuclear protein
    pfam08265
    Location:302330
    YL1_C; YL1 nuclear protein C-terminal domain
  2. NM_001271088.2NP_001258017.1  vacuolar protein sorting-associated protein 72 homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region that result in a frameshift, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL592424, CT003766, DQ655941
    Related
    ENSP00000491718.1, ENST00000640458.1
    Conserved Domains (2) summary
    pfam04180
    Location:2278
    LTV; Low temperature viability protein
    pfam05764
    Location:6193
    YL1; YL1 nuclear protein
  3. NM_005997.3NP_005988.1  vacuolar protein sorting-associated protein 72 homolog isoform 2

    See identical proteins and their annotated locations for NP_005988.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AA128103, AW194498, D43642, DQ655941
    Consensus CDS
    CCDS989.1
    UniProtKB/Swiss-Prot
    Q15906
    Related
    ENSP00000357887.4, ENST00000368892.8
    Conserved Domains (3) summary
    pfam04180
    Location:2278
    LTV; Low temperature viability protein
    pfam05764
    Location:6216
    YL1; YL1 nuclear protein
    pfam08265
    Location:291319
    YL1_C; YL1 nuclear protein C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    151176304..151190210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002205.1XP_016857694.1  vacuolar protein sorting-associated protein 72 homolog isoform X1

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