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STH saitohin [ Homo sapiens (human) ]

Gene ID: 246744, updated on 5-Aug-2022

Summary

Official Symbol
STHprovided by HGNC
Official Full Name
saitohinprovided by HGNC
Primary source
HGNC:HGNC:18839
See related
Ensembl:ENSG00000256762 MIM:607067; AllianceGenome:HGNC:18839
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
MAPTIT
Summary
Involved in positive regulation of mRNA splicing, via spliceosome. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

See STH in Genome Data Viewer
Location:
17q21.31
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45999250..45999694)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46860878..46861322)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (44076616..44077060)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MAPT intronic transcript 1 Neighboring gene uncharacterized LOC105371800 Neighboring gene microtubule associated protein tau Neighboring gene KAT8 regulatory NSL complex subunit 1 Neighboring gene uncharacterized LOC107985027 Neighboring gene KANSL1 antisense RNA 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Common variants at 6q22 and 17q21 are associated with intracranial volume.
EBI GWAS Catalog
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC163191, MGC163193

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in positive regulation of mRNA splicing, via spliceosome IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
saitohin
Names
microtubule-associated protein tau (MAPT) intronic transcript

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_001007532.3NP_001007533.1  saitohin

    See identical proteins and their annotated locations for NP_001007533.1

    Status: VALIDATED

    Source sequence(s)
    CR936218
    Consensus CDS
    CCDS54136.1
    UniProtKB/Swiss-Prot
    A1L3X7, Q8IWL8
    Related
    ENSP00000443168.1, ENST00000537309.1

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    45999250..45999694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    788696..789140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    701369..701813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    46860878..46861322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)