SRFBP1 serum response factor binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRFBP1provided by HGNC
Official Full Name: serum response factor binding protein 1provided by HGNC
Primary source: HGNC:HGNC:26333
See related: Ensembl:ENSG00000151304 MIM:610479; AllianceGenome:HGNC:26333
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: P49; Rlb1; BUD22; STRAP; p49/STRAP
Summary: Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Predicted to be located in perinuclear region of cytoplasm. Predicted to be part of 90S preribosome. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 4.8), fat (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (121961975..122078935)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (122478734..122592980)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (121297670..121364328)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

P49/STRAP expression was increased in the old versus young adult mouse hearts and also increased with advancing population doubling levels in cultured human umbilical vein endothelial cells. The increased expression of p49/STRAP in late life may alter the status of histone acetylation and impact mitochondrial dynamics and thereby reduce mitochondrial function and cardiac performance during mammalian senescence.
Title: Does p49/STRAP, a SRF-binding protein (SRFBP1), modulate cardiac mitochondrial function in aging?
SRFBP1 is an HCV-specific, pan-genotypic host entry factor.
Title: Quantitative Proteomics Identifies Serum Response Factor Binding Protein 1 as a Host Factor for Hepatitis C Virus Entry.
p49/STRAP can be considered a bona fide co-chaperone of Hsp70.
Title: Interaction of Hsp70 with p49/STRAP, a serum response factor binding protein.
p49/STRAP plays a role in the regulation of intracellular processes such as cardiac cellular metabolism, gene expression, and possibly aging.
Title: Identification of a subunit of NADH-dehydrogenase as a p49/STRAP-binding protein.
p49/STRAP may be an important SRF cofactor in the transcriptional regulation of mammalian cardiac muscle genes throughout the life span
Title: Identification of a novel serum response factor cofactor in cardiac gene regulation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

A009K09 (e-PCR)
- UniSTS:18075

G32606 (e-PCR)
- UniSTS:117189

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serum response factor-binding protein 1

Names: BUD22 homolog; SRF-dependent transcription regulation-associated protein

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)

NM_152546.3 → NP_689759.2 serum response factor-binding protein 1

See identical proteins and their annotated locations for NP_689759.2

Status: VALIDATED

Source sequence(s)

AC010255, AK058015, BC017102, BG193119

Consensus CDS

CCDS43354.1

UniProtKB/Swiss-Prot

Q5QFI2, Q8NEF9, Q96AH4, Q96DK2

Related

ENSP00000341324.4, ENST00000339397.5

Conserved Domains (2) summary

PTZ00108
Location:37 → 285

PTZ00108; DNA topoisomerase 2-like protein; Provisional

pfam09073
Location:355 → 428

BUD22

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

121961975..122078935

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009111.3 → XP_016864600.2 serum response factor-binding protein 1 isoform X1

Conserved Domains (1) summary

cl25574
Location:37 → 285

TOP2c; TopoisomeraseII