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

Gene ID: 57095, updated on 6-Sep-2022

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; AllianceGenome:HGNC:25022
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
Summary
Involved in positive regulation of megakaryocyte differentiation and positive regulation of transcription, DNA-templated. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 48.5), bone marrow (RPKM 31.2) and 25 other tissues See more
Orthologs
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Genomic context

See PITHD1 in Genome Data Viewer
Location:
1p36.11
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23778418..23788232)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23613387..23623208)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24104908..24114722)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ELOA antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2978 Neighboring gene Sharpr-MPRA regulatory region 12147 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

Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sperm cytoplasmic droplet IEA
Inferred from Electronic Annotation
more info
 

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)

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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_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, Q9NRI8
    Related
    ENSP00000246151.4, ENST00000246151.9
    Conserved Domains (1) summary
    pfam06201
    Location:35175
    PITH; PITH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    23778418..23788232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541804.2XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    23613387..23623208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)