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PITHD1 PITH domain containing 1 [ Homo sapiens (human) ]

Gene ID: 57095, updated on 18-Aug-2020

Summary

Official Symbol
PITHD1provided by HGNC
Official Full Name
PITH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25022
See related
Ensembl:ENSG00000057757 MIM:618784
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
HT014; TXNL1CL; C1orf128
Expression
Ubiquitous expression in brain (RPKM 48.5), bone marrow (RPKM 31.2) and 25 other tissues See more
Orthologs

Genomic context

See PITHD1 in Genome Data Viewer
Location:
1p36.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (23778417..23788232)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24104876..24114722)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L11 Neighboring gene elongin A Neighboring gene ELOA antisense RNA 1 Neighboring gene uncharacterized LOC105376860 Neighboring gene lysophospholipase 2 Neighboring gene UDP-galactose-4-epimerase

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of megakaryocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PITH domain-containing protein 1
Names
PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1
TXNL1 C-terminal like

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_020362.5NP_065095.2  PITH domain-containing protein 1

    See identical proteins and their annotated locations for NP_065095.2

    Status: VALIDATED

    Source sequence(s)
    BC017208, DB104988
    Consensus CDS
    CCDS240.1
    UniProtKB/Swiss-Prot
    Q9GZP4
    Related
    ENSP00000246151.4, ENST00000246151.9
    Conserved Domains (1) summary
    pfam06201
    Location:31175
    PITH; PITH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    23778417..23788232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541804.1XP_011540106.1  PITH domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011540106.1

    UniProtKB/TrEMBL
    B4DKP7
    Related
    ENSP00000363648.1, ENST00000374524.1
    Conserved Domains (1) summary
    pfam06201
    Location:282
    PITH; PITH domain
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