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PIH1D1 PIH1 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55011, updated on 21-May-2024

Summary

Official Symbol
PIH1D1provided by HGNC
Official Full Name
PIH1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26075
See related
Ensembl:ENSG00000104872 MIM:611480; AllianceGenome:HGNC:26075
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
Pih1; MOT48; NOP17; DNAAF14
Summary
Enables several functions, including RNA polymerase I core promoter sequence-specific DNA binding activity; enzyme binding activity; and phosphoprotein binding activity. Involved in several processes, including box C/D snoRNP assembly; positive regulation of signal transduction; and regulation of cellular protein metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex and pre-snoRNP complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

See PIH1D1 in Genome Data Viewer
Location:
19q13.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49446298..49451814, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52443763..52449272, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49949555..49955071, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49926814-49927017 Neighboring gene Sharpr-MPRA regulatory region 4016 Neighboring gene golgi associated olfactory signaling regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935289-49935861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935862-49936433 Neighboring gene solute carrier family 17 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49954699-49955377 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49957075-49958034 Neighboring gene aldehyde dehydrogenase 16 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14942 Neighboring gene fms related receptor tyrosine kinase 3 ligand

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20643

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables RNA polymerase I cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone reader activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in TORC1 complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in box C/D snoRNP assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glucose mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT involved_in regulation of TORC2 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in snoRNA localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of R2TP complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of R2TP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of R2TP complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of RPAP3/R2TP/prefoldin-like complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of pre-snoRNP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
PIH1 domain-containing protein 1
Names
dynein axonemal assembly factor 14
nucleolar protein 17 homolog

NCBI Reference Sequences (RefSeq)

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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_017916.3NP_060386.1  PIH1 domain-containing protein 1

    See identical proteins and their annotated locations for NP_060386.1

    Status: VALIDATED

    Source sequence(s)
    AA018444, AK000650, DC385084
    Consensus CDS
    CCDS12765.1
    UniProtKB/Swiss-Prot
    B4DGN7, B4E2X7, Q9BVL0, Q9NWS0
    UniProtKB/TrEMBL
    M0QYA2
    Related
    ENSP00000262265.4, ENST00000262265.10
    Conserved Domains (1) summary
    cl00175
    Location:30284
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49446298..49451814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451570.2XP_024307338.1  PIH1 domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cl00175
    Location:6157
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
  2. XM_047439024.1XP_047294980.1  PIH1 domain-containing protein 1 isoform X1

  3. XM_047439025.1XP_047294981.1  PIH1 domain-containing protein 1 isoform X2

    Related
    ENSP00000520492.1, ENST00000715674.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52443763..52449272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321346.1XP_054177321.1  PIH1 domain-containing protein 1 isoform X3

  2. XM_054321344.1XP_054177319.1  PIH1 domain-containing protein 1 isoform X1

  3. XM_054321345.1XP_054177320.1  PIH1 domain-containing protein 1 isoform X2