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PLEKHA8 pleckstrin homology domain containing A8 [ Homo sapiens (human) ]

Gene ID: 84725, updated on 26-May-2016
Official Symbol
PLEKHA8provided by HGNC
Official Full Name
pleckstrin homology domain containing A8provided by HGNC
Primary source
HGNC:HGNC:30037
See related
Ensembl:ENSG00000106086 HPRD:10555; MIM:608639; Vega:OTTHUMG00000097751
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
FAPP2
Orthologs
Location:
7p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (30028361..30130483)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30067977..30157961)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene secernin 1 Neighboring gene uncharacterized LOC105375215 Neighboring gene FK506 binding protein 14 Neighboring gene uncharacterized LOC105375216 Neighboring gene maturin, neural progenitor differentiation regulator homolog (Xenopus) Neighboring gene uncharacterized LOC105375217

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC3358, DKFZp313M1034, DKFZp686J09164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide binding IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid binding IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi ceramide transport IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid transport IEA
Inferred from Electronic Annotation
more info
 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
pleckstrin homology domain-containing family A member 8
Names
PH domain-containing family A member 8
phosphatidylinositol-four-phosphate adapter protein 2
phosphoinositol 4-phosphate adapter protein 2
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
serologically defined breast cancer antigen NY-BR-86

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_001197026.1NP_001183955.1  pleckstrin homology domain-containing family A member 8 isoform 1

    See identical proteins and their annotated locations for NP_001183955.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007285, AI954066, AK294857
    Consensus CDS
    CCDS56473.1
    UniProtKB/Swiss-Prot
    Q96JA3
    Related
    ENSP00000397947, ENST00000449726
    Conserved Domains (2) summary
    pfam08718
    Location:329474
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  2. NM_001197027.1NP_001183956.1  pleckstrin homology domain-containing family A member 8 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007285, AI168153, AK294857
    Consensus CDS
    CCDS75574.1
    UniProtKB/Swiss-Prot
    Q96JA3
    UniProtKB/TrEMBL
    A0A087X1S6
    Related
    ENSP00000484427, ENST00000622102
    Conserved Domains (2) summary
    pfam08718
    Location:329454
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  3. NM_032639.3NP_116028.1  pleckstrin homology domain-containing family A member 8 isoform 3

    See identical proteins and their annotated locations for NP_116028.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region and contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007285, AK294857, BC002838
    Consensus CDS
    CCDS5424.1
    UniProtKB/Swiss-Prot
    Q96JA3
    Related
    ENSP00000258679, OTTHUMP00000123378, ENST00000258679, OTTHUMT00000214982
    Conserved Domains (2) summary
    pfam08718
    Location:329435
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain

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
    30028361..30130483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515594.1XP_011513896.1  

    See identical proteins and their annotated locations for XP_011513896.1

    UniProtKB/Swiss-Prot
    Q96JA3
    Related
    ENSP00000379556, OTTHUMP00000123379, ENST00000396257, OTTHUMT00000214983
    Conserved Domains (2) summary
    pfam08718
    Location:329455
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  2. XM_011515595.1XP_011513897.1  

    UniProtKB/TrEMBL
    B5MDU3
    Related
    ENSP00000379558, OTTHUMP00000123380, ENST00000396259, OTTHUMT00000214984
    Conserved Domains (2) summary
    pfam08718
    Location:329428
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  3. XM_005249897.2XP_005249954.1  

    Conserved Domains (2) summary
    pfam08718
    Location:329435
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  4. XM_011515592.1XP_011513894.1  

    Conserved Domains (2) summary
    pfam08718
    Location:329454
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  5. XM_011515591.1XP_011513893.1  

    Conserved Domains (2) summary
    pfam08718
    Location:329455
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  6. XM_011515593.1XP_011513895.1  

    Conserved Domains (2) summary
    pfam08718
    Location:329455
    GLTP; Glycolipid transfer protein (GLTP)
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
  7. XM_005249898.1XP_005249955.1  

    Conserved Domains (1) summary
    pfam08718
    Location:142287
    GLTP; Glycolipid transfer protein (GLTP)
  8. XM_011515596.1XP_011513898.1  

    Conserved Domains (1) summary
    pfam08718
    Location:160305
    GLTP; Glycolipid transfer protein (GLTP)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    30068087..30158038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)