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PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 [ Homo sapiens (human) ]

Gene ID: 57475, updated on 5-Aug-2018

Summary

Official Symbol
PLEKHH1provided by HGNC
Official Full Name
pleckstrin homology, MyTH4 and FERM domain containing H1provided by HGNC
Primary source
HGNC:HGNC:17733
See related
Ensembl:ENSG00000054690 Vega:OTTHUMG00000171272
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
Expression
Biased expression in thyroid (RPKM 29.6), brain (RPKM 19.8) and 13 other tissues See more
Orthologs

Genomic context

See PLEKHH1 in Genome Data Viewer
Location:
14q24.1
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (67533155..67589766)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67999916..68056255)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC105370542 Neighboring gene microRNA 5694 Neighboring gene transmembrane protein 229B Neighboring gene uncharacterized LOC105370543 Neighboring gene protein kinase C eta pseudogene Neighboring gene high mobility group box 1 pseudogene 34 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family H member 1
Names
PH domain-containing family H member 1
pleckstrin homology domain containing, family H (with MyTH4 domain) member 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_020715.2NP_065766.1  pleckstrin homology domain-containing family H member 1

    See identical proteins and their annotated locations for NP_065766.1

    Status: VALIDATED

    Source sequence(s)
    AB033026, AI792090, AL132640, DA056171
    Consensus CDS
    CCDS45128.1
    UniProtKB/Swiss-Prot
    Q9ULM0
    Related
    ENSP00000330278.5, OTTHUMP00000245708, ENST00000329153.9, OTTHUMT00000412730
    Conserved Domains (9) summary
    TIGR02473
    Location:27164
    flagell_FliJ; flagellar export protein FliJ
    smart00139
    Location:832986
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00233
    Location:688791
    PH; Pleckstrin homology domain
    smart00295
    Location:9991230
    B41; Band 4.1 homologues
    cd13206
    Location:12261328
    FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
    cd13282
    Location:581676
    PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
    pfam00169
    Location:579672
    PH; PH domain
    pfam00373
    Location:11021230
    FERM_M; FERM central domain
    cl09176
    Location:31186
    FlgN; FlgN 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
    67533155..67589766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021499.1XP_016876988.1  pleckstrin homology domain-containing family H member 1 isoform X2

  2. XM_017021501.1XP_016876990.1  pleckstrin homology domain-containing family H member 1 isoform X4

  3. XM_011537009.1XP_011535311.1  pleckstrin homology domain-containing family H member 1 isoform X1

    Conserved Domains (8) summary
    TIGR02473
    Location:27164
    flagell_FliJ; flagellar export protein FliJ
    smart00139
    Location:8601014
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:10271258
    B41; Band 4.1 homologues
    cd13206
    Location:12541356
    FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
    cd13282
    Location:581676
    PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
    pfam00169
    Location:579672
    PH; PH domain
    pfam00373
    Location:11301258
    FERM_M; FERM central domain
    cl09176
    Location:31186
    FlgN; FlgN protein
  4. XM_017021500.1XP_016876989.1  pleckstrin homology domain-containing family H member 1 isoform X3

  5. XM_017021504.1XP_016876993.1  pleckstrin homology domain-containing family H member 1 isoform X8

  6. XM_017021503.1XP_016876992.1  pleckstrin homology domain-containing family H member 1 isoform X7

  7. XM_011537015.2XP_011535317.1  pleckstrin homology domain-containing family H member 1 isoform X6

    Conserved Domains (6) summary
    smart00139
    Location:387541
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:554785
    B41; Band 4.1 homologues
    cd13206
    Location:781883
    FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
    cd13282
    Location:108203
    PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
    pfam00169
    Location:106199
    PH; PH domain
    pfam00373
    Location:657785
    FERM_M; FERM central domain
  8. XM_017021502.1XP_016876991.1  pleckstrin homology domain-containing family H member 1 isoform X5

RNA

  1. XR_002957564.1 RNA Sequence

  2. XR_001750460.1 RNA Sequence

  3. XR_001750461.1 RNA Sequence

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