SIRPB1 signal regulatory protein beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SIRPB1provided by HGNC
Official Full Name: signal regulatory protein beta 1provided by HGNC
Primary source: HGNC:HGNC:15928
See related: Ensembl:ENSG00000101307 MIM:603889; AllianceGenome:HGNC:15928
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD172b; SIRP-BETA-1
Summary: The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Expression: Broad expression in appendix (RPKM 6.6), bone marrow (RPKM 6.0) and 22 other tissues See more
Orthologs: all
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Genomic context

Location:: 20p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (1561385..1620009, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (1610569..1636143, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (1542031..1600655, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

SIRPB1 regulates inflammatory factor expression in the glioma microenvironment via SYK: functional and bioinformatics insights.
Title: SIRPB1 regulates inflammatory factor expression in the glioma microenvironment via SYK: functional and bioinformatics insights.
An Insertion Within SIRPbeta1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.
Title: An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.
Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.
Title: Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.
SIRPB1 copy-number polymorphism was significantly associated with impulsive-disinhibited personality scores in a dose-dependent manner.
Title: SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
SIRPbeta1 is a novel IFN-induced microglial receptor that supports clearance of neural debris and Abeta aggregates by stimulating phagocytosis.
Title: Signal regulatory protein-beta1: a microglial modulator of phagocytosis in Alzheimer's disease.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
SIRP beta 1 is a disulfide-linked homodimer in leukocytes that regulates neutrophil transepithelial migration
Title: SIRPbeta1 is expressed as a disulfide-linked homodimer in leukocytes and positively regulates neutrophil transepithelial migration.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of signal-regulatory protein beta 1 (SIRPB1) in peptide-treated PBMCs	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SIRPB1__6838 (e-PCR)
- UniSTS:466434

D8S2279 (e-PCR)
- UniSTS:473907

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 cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: signal-regulatory protein beta-1

Names: CD172 antigen-like family member B

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_001083910.4 → NP_001077379.1 signal-regulatory protein beta-1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two in-frame coding exons in the 3' region compared to variant 1. The resulting isoform (2) lacks an internal segment compared to isoform 1.

Source sequence(s)

AL049634, BC025286, BP268958, DA331023, DA761891

Consensus CDS

CCDS42850.1

UniProtKB/TrEMBL

A2RRP5

Related

ENSP00000371016.3, ENST00000381603.7

Conserved Domains (2) summary

smart00410
Location:40 → 143

IG_like; Immunoglobulin like

pfam07686
Location:37 → 144

V-set; Immunoglobulin V-set domain
NM_001135844.4 → NP_001129316.1 signal-regulatory protein beta-1 isoform 3 precursor

See identical proteins and their annotated locations for NP_001129316.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The encoded isoform (3) is the same length as isoform 1, but these isoforms differ in their amino acid sequences. Both variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AL138804, AL592544, BM285386, BX537992, DA761891

Consensus CDS

CCDS46571.1

UniProtKB/Swiss-Prot

Q5TFQ8, Q7Z3B9

Related

ENSP00000279477.7, ENST00000279477.11

Conserved Domains (4) summary

cd00098
Location:265 → 338

IgC; Immunoglobulin Constant domain

cd00099
Location:42 → 143

IgV; Immunoglobulin variable domain (IgV)

smart00410
Location:40 → 143

IG_like; Immunoglobulin like

cl11960
Location:142 → 253

Ig; Immunoglobulin domain
NM_001329157.2 → NP_001316086.1 signal-regulatory protein beta-1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The encoded isoform (3) is the same length as isoform 1, but these isoforms differ in their amino acid sequences. Both variants 3 and 4 encode the same isoform (3).

Source sequence(s)

AK289866, BM285386, DA761891, DA967881

Consensus CDS

CCDS46571.1

UniProtKB/Swiss-Prot

Q5TFQ8, Q7Z3B9

Related

ENSP00000456826.1, ENST00000568365.1

Conserved Domains (4) summary

cd00098
Location:265 → 338

IgC; Immunoglobulin Constant domain

cd00099
Location:42 → 143

IgV; Immunoglobulin variable domain (IgV)

smart00410
Location:40 → 143

IG_like; Immunoglobulin like

cl11960
Location:142 → 253

Ig; Immunoglobulin domain
NM_001330639.2 → NP_001317568.1 signal-regulatory protein beta-1 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The encoded isoform (4) is shorter and has multiple differences compared to isoform 1.

Source sequence(s)

AL049634, BC025286, BP268958, BP300244

Consensus CDS

CCDS82591.1

UniProtKB/TrEMBL

A2RRP5, H9KV29

Related

ENSP00000262929.5, ENST00000262929.9

Conserved Domains (2) summary

smart00410
Location:39 → 142

IG_like; Immunoglobulin like

pfam07686
Location:36 → 143

V-set; Immunoglobulin V-set domain
NM_006065.5 → NP_006056.2 signal-regulatory protein beta-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_006056.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Isoforms 1 and 3 are the same length but differ in their amino acid sequences.

Source sequence(s)

AL049634, BC025286, BM010247, BP268958, BP295274, DA331023, DA761891, Y10376

Consensus CDS

CCDS13019.1

UniProtKB/Swiss-Prot

A6NLM2, B2R8V0, O00241, Q5TFQ9, Q5TFR0, Q8TB12, Q9H1U5, Q9Y4V0

Related

ENSP00000371018.5, ENST00000381605.9

Conserved Domains (4) summary

cd00098
Location:265 → 344

IgC; Immunoglobulin Constant domain

cd05772
Location:142 → 253

IgC_SIRP; Signal-regulatory protein (SIRP) immunoglobulin-like domain

smart00410
Location:40 → 143

IG_like; Immunoglobulin like

pfam07686
Location:37 → 144

V-set; Immunoglobulin V-set domain

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

1561385..1620009 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260641.4 → XP_005260698.1 signal-regulatory protein beta-1 isoform X1

Conserved Domains (4) summary

cd00098
Location:264 → 343

IgC; Immunoglobulin Constant domain

cd05772
Location:141 → 252

IgC_SIRP; Signal-regulatory protein (SIRP) immunoglobulin-like domain

smart00410
Location:39 → 142

IG_like; Immunoglobulin like

pfam07686
Location:36 → 143

V-set; Immunoglobulin V-set domain