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PACS2 phosphofurin acidic cluster sorting protein 2 [ Homo sapiens (human) ]

Gene ID: 23241, updated on 22-Sep-2018

Summary

Official Symbol
PACS2provided by HGNC
Official Full Name
phosphofurin acidic cluster sorting protein 2provided by HGNC
Primary source
HGNC:HGNC:23794
See related
Ensembl:ENSG00000179364 MIM:610423; Vega:OTTHUMG00000170450
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EIEE66; PACS-2; PACS1L
Expression
Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues See more
Orthologs

Genomic context

See PACS2 in Genome Data Viewer
Location:
14q32.33
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (105300718..105398147)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105767170..105864484)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene nudix hydrolase 14 Neighboring gene BRF1, RNA polymerase III transcription initiation factor subunit Neighboring gene BTB domain containing 6 Neighboring gene ribosomal protein S20 pseudogene 33 Neighboring gene uncharacterized LOC100507437 Neighboring gene testis expressed 22

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Amino-acid residues 102-116 in the FBR region of PACS-2 bind to HIV-1 Nef and alanine-scanning analysis reveals that amino acid N109 is required for the binding between PACS-2 and Nef PubMed
nef HIV-1 Nef-mediated downregulation of MHC-I requires Nef motif EEEE(65)-dependent binding to the sorting protein PACS-2, which targets Nef to the paranuclear region and enables Nef PXXP(75) to bind and activate a trans-Golgi network localized Src kinase PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25488, KIAA0602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
autophagosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to phagophore assembly site IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
phosphofurin acidic cluster sorting protein 2
Names
PACS1-like protein

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_001100913.2NP_001094383.2  phosphofurin acidic cluster sorting protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001094383.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB011174, AL512355, AL928654, AY320284, CA423467
    Consensus CDS
    CCDS45178.2
    UniProtKB/Swiss-Prot
    Q86VP3
    Related
    ENSP00000393559.2, OTTHUMP00000243839, ENST00000447393.5, OTTHUMT00000409210
    Conserved Domains (1) summary
    pfam10254
    Location:477900
    Pacs-1; PACS-1 cytosolic sorting protein
  2. NM_001243127.2NP_001230056.1  phosphofurin acidic cluster sorting protein 2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK098354, BC065220, BC131591, CA423467, DA177001, DA408379, HY009105
    Consensus CDS
    CCDS58339.1
    UniProtKB/Swiss-Prot
    Q86VP3
    UniProtKB/TrEMBL
    Q8N7J0
    Related
    ENSP00000393524.2, OTTHUMP00000243837, ENST00000430725.6, OTTHUMT00000409208
    Conserved Domains (1) summary
    pfam10254
    Location:398810
    Pacs-1; PACS-1 cytosolic sorting protein
  3. NM_015197.3NP_056012.2  phosphofurin acidic cluster sorting protein 2 isoform 2

    See identical proteins and their annotated locations for NP_056012.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AL512355, AL928654, AY320284, BC065220, CA423467
    Consensus CDS
    CCDS32168.1
    UniProtKB/Swiss-Prot
    Q86VP3
    Related
    ENSP00000321834.8, OTTHUMP00000243838, ENST00000325438.12, OTTHUMT00000409209
    Conserved Domains (1) summary
    pfam10254
    Location:473885
    Pacs-1; PACS-1 cytosolic sorting protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    105300718..105398147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021112.2XP_016876601.1  phosphofurin acidic cluster sorting protein 2 isoform X11

  2. XM_017021111.2XP_016876600.1  phosphofurin acidic cluster sorting protein 2 isoform X10

  3. XM_006720090.2XP_006720153.1  phosphofurin acidic cluster sorting protein 2 isoform X1

    Conserved Domains (1) summary
    pfam10254
    Location:478901
    Pacs-1; PACS-1 cytosolic sorting protein
  4. XM_006720091.2XP_006720154.1  phosphofurin acidic cluster sorting protein 2 isoform X6

    Conserved Domains (1) summary
    pfam10254
    Location:478890
    Pacs-1; PACS-1 cytosolic sorting protein
  5. XM_017021105.2XP_016876594.1  phosphofurin acidic cluster sorting protein 2 isoform X2

  6. XM_017021110.2XP_016876599.1  phosphofurin acidic cluster sorting protein 2 isoform X8

    Related
    OTTHUMP00000243840
  7. XM_017021109.2XP_016876598.1  phosphofurin acidic cluster sorting protein 2 isoform X7

  8. XM_017021106.2XP_016876595.1  phosphofurin acidic cluster sorting protein 2 isoform X3

  9. XM_017021107.2XP_016876596.1  phosphofurin acidic cluster sorting protein 2 isoform X4

  10. XM_017021108.2XP_016876597.1  phosphofurin acidic cluster sorting protein 2 isoform X5

  11. XM_006720092.3XP_006720155.1  phosphofurin acidic cluster sorting protein 2 isoform X9

    Conserved Domains (1) summary
    pfam10254
    Location:465877
    Pacs-1; PACS-1 cytosolic sorting protein

RNA

  1. XR_001750200.2 RNA Sequence

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