SREK1IP1 SREK1 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SREK1IP1provided by HGNC
Official Full Name: SREK1 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:26716
See related: Ensembl:ENSG00000153006 AllianceGenome:HGNC:26716
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: P18SRP; SFRS12IP1
Summary: Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in RNA splicing and mRNA processing. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in skin (RPKM 4.8), placenta (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q12.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (64718148..64768691, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (65538272..65588810, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (64013975..64064518, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
p18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients.
Title: The splicing regulatory protein p18SRP is down-regulated in Alzheimer's disease brain.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34182 (e-PCR)
- UniSTS:75278

STS-N34863 (e-PCR)
- UniSTS:32783

RH92832 (e-PCR)
- UniSTS:86367

RH92756 (e-PCR)
- UniSTS:88768

RH48771 (e-PCR)
- UniSTS:9668

RH45975 (e-PCR)
- UniSTS:10453

D5S1573E (e-PCR)
- UniSTS:150999

SGC38270 (e-PCR)
- UniSTS:24812

SHGC-81717 (e-PCR)
- UniSTS:170239

Clone Names

FLJ36754, MGC131910, MGC150548, MGC150549

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein SREK1IP1

Names: SFRS12-interacting protein 1; p18 splicing regulatory protein; protein SFRS12IP1; splicing regulatory protein of 18 kDa

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.