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CXCL12 chemokine (C-X-C motif) ligand 12 [ Homo sapiens (human) ]

Gene ID: 6387, updated on 17-Apr-2014
Official Symbol
CXCL12provided by HGNC
Official Full Name
chemokine (C-X-C motif) ligand 12provided by HGNC
Primary source
HGNC:10672
See related
Ensembl:ENSG00000107562; HPRD:02904; MIM:600835; Vega:OTTHUMG00000018054
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
IRH; PBSF; SDF1; TLSF; TPAR1; SCYB12
Summary
This gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Location :
10q11.1
Sequence :
Chromosome: 10; NC_000010.11 (44370153..44385097, complement)
See CXCL12 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 841 Neighboring gene uncharacterized LOC101929465 Neighboring gene uncharacterized LOC100130539 Neighboring gene ribosomal protein L9 pseudogene 21 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Congenital human immunodeficiency virus
MedGen: C1836230 OMIM: 609423 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
NHGRI GWA Catalog
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
NHGRI GWA Catalog
Genomewide association analysis of coronary artery disease.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env CXCL12 and HIV-1 gp120 modulate the excitability of Cajal-Retzius cells in opposite directions PubMed
env HIV-1 gp120 abnormally interferes with SDF-1-mediated T cell chemotaxis and cell migration in resting CD4+ T Cells PubMed
env CXCL12 variant proteins exhibits the various levels of inhibition of HIV-1 X4 Env-mediated fusion. The strongest and weakest inhibition activities among the variant proteins in the X4 Env fusion assay are CXCL12gamma and CXCL12delta, respectively PubMed
env The ability of HIV-1 gp120 to inhibit SDF-1a-induced chemotaxis is mediated by the CD4 receptor and Lck signaling PubMed
env The entry of T cell-tropic HIV-1 isolates into cells is blocked by SDF-1, which interacts with the HIV-1 gp120 coreceptor CXCR4 PubMed
env HIV-1 gp120 from a T-cell-tropic virus causes CD4-dependent antagonism of CXCR4 response to SDF-1alpha, whereas gp120 from macrophage-tropic viruses causes CD4-dependent antagonism of CCR5 response to MIP-1alpha PubMed
env RANTES, stromal derived factor-1alpha (SDF-1alpha), macrophage-derived chemokine (MDC), and their combination attenuate HIV-1 gp120-induced food and water intake decrease in rats PubMed
env Apoptosis of CD8+ T cells is mediated by the interaction between TNF-alpha bound to the membrane of macrophages (mbTNF) and a receptor on CD8+ T cells (TNF-receptor II, or TNFRII), which is upregulated by treatment with recombinant HIV-1 gp120 or SDF-1 PubMed
env The death rate of CD8+ T cells by apoptosis, which is induced by HIV-1 gp120 from CXCR4-tropic HIV strains or by the ligand of the chemokine receptor CXCR4 (SDF-1), increased markedly during HIV infection of peripheral blood mononuclear cells PubMed
env A synthetic peptide domain of the V3 region of HIV-1 gp120 activates the FPRL1 receptor in monocytes and neutrophils and causes reduced response to several chemokines that use multiple cell receptors, including SDF-1alpha and RANTES PubMed
env Chemokines such as fractalkine, macrophage-derived chemokine (MDC), RANTES, and SDF-1alpha are able to block gp120-induced apoptosis of hippocampal neurons; both fractalkine and MDC activate ERK-1/2, while SDF-1alpha activates CREB PubMed
env SDF-1alpha reverses gp120-induced downregulation of CD79b in CD40- and IL-4-activated purified HIV-1 seronegative human peripheral blood B cells PubMed
env CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 proteins inhibit B cell chemotaxis toward CXCL12, CCL20, and CCL21, and gp120-induced p38 MAPK activation is triggered by CCL21 and CCL20 PubMed
env The fusion of insulin-like growth factor I (IGF I) with stromal cell-derived factor I or alpha1 proteinase inhibitor has the capacity to compete with the binding of HIV-1 gp120 to CD4 receptor PubMed
Gag, Pr55 gag Expression of HIV-1 Gag attenuates SDF-1-mediated downregulation of CXCR4. The effect of Gag is dependent on a TSG101 interacting motif within the C-terminal p6 region of Gag PubMed
Nef, p27 nef Disruption of the proline-rich region of HIV-1 Nef inhibits T-cell migration to SDF-1 alpha, suggesting Nef occupies a position in the CXCR4-mediated signaling pathway that is upstream of an SH3-dependent pathway PubMed
nef An intracellular signaling pathway mediated by the binding of SDF-1alpha and CXCR4 is inhibited by Nef in both Jurkat T cells and primary peripheral CD4+ T lymphocytes PubMed
Tat, p14 tat HIV-1 Tat tethered to the surface of syndecan-1 expression B-lymphoid cells or of peripheral blood monocytes promotes their transendothelial migration in vitro in response to CXCL12 or CCL5, respectively PubMed
tat HIV-1 Tat increases CXCL12-induced internalization of CXCR4, and the Tat-mediated CXCR4 internalization requires activity of protein kinase C (zeta) PubMed
tat HIV-1 Tat interacts with SDF-1alpha to induce apoptosis in Tat-treated erythroid cells PubMed
tat HIV-1 Tat can inhibit CXCR4-mediated functions by interfering with the chemotactic activity of SDF-1/CXCL12, an effect mediated by Tat amino acids 25-31 PubMed
tat HIV-1 Tat induces SDF-1alpha expression in neurons and Tat-mediated neurite outgrowth is blocked by anti-SDF-1alpha antibody, suggesting a role for SDF-1alpha in the neuronal response to HIV in brains of AIDS patients PubMed
tat SDF-1 is upregulated by HIV-1 Tat treatment in human epithelial cells PubMed
tat SDF-1alpha stimulates the ability of HIV-1 Tat to transactivate the HIV-1 LTR promoter PubMed
tat HIV-1 Tat competes with SDF-1alpha for binding to CXCR4 PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CXCR4-mediated signaling events, organism-specific biosystem
    CXCR4-mediated signaling events
  • Chemokine receptors bind chemokines, organism-specific biosystem (from REACTOME)
    Chemokine receptors bind chemokines, organism-specific biosystemChemokine receptors are cytokine receptors found on the surface of certain cells, which interact with a type of cytokine called a chemokine. Following interaction, these receptors trigger a flux of i...
  • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
    Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
  • Chemokine signaling pathway, conserved biosystem (from KEGG)
    Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • Intestinal immune network for IgA production, organism-specific biosystem (from KEGG)
    Intestinal immune network for IgA production, organism-specific biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
  • Intestinal immune network for IgA production, conserved biosystem (from KEGG)
    Intestinal immune network for IgA production, conserved biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
    NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-4-mediated signaling events, organism-specific biosystem
    Syndecan-4-mediated signaling events
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CXCR chemokine receptor binding IDA
Inferred from Direct Assay
more info
 
chemokine activity TAS
Traceable Author Statement
more info
PubMed 
chemokine receptor binding IMP
Inferred from Mutant Phenotype
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
ameboidal cell migration IEA
Inferred from Electronic Annotation
more info
 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell chemotaxis TAS
Traceable Author Statement
more info
PubMed 
cellular calcium ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
chemokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
germ cell migration IEA
Inferred from Electronic Annotation
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
induction of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
motor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
 
negative regulation of leukocyte apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
organ regeneration IEA
Inferred from Electronic Annotation
more info
 
patterning of blood vessels IEA
Inferred from Electronic Annotation
more info
 
positive regulation of axon extension involved in axon guidance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium ion import TAS
Traceable Author Statement
more info
PubMed 
positive regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of monocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of actin polymerization or depolymerization TAS
Traceable Author Statement
more info
PubMed 
response to heat IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
response to radiation IEA
Inferred from Electronic Annotation
more info
 
response to virus TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
telencephalon cell migration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
stromal cell-derived factor 1
Names
stromal cell-derived factor 1
intercrine reduced in hepatomas
pre-B cell growth-stimulating factor

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.

Genomic

  1. NG_016861.1 RefSeqGene

    Range
    5001..19945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000609.6NP_000600.1  stromal cell-derived factor 1 isoform beta precursor

    See proteins identical to NP_000600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon, and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform beta) is longer and has a distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    AK292628, AL137026, L36033
    Consensus CDS
    CCDS44373.1
    UniProtKB/Swiss-Prot
    P48061
    Related
    ENSP00000363551, OTTHUMP00000019492, ENST00000374429, OTTHUMT00000047738
    Conserved Domains (1) summary
    cd00273
    Location:2788
    Blast Score: 147
    Chemokine_CXC; Chemokine_CXC: 1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members ...
  2. NM_001033886.2NP_001029058.1  stromal cell-derived factor 1 isoform gamma precursor

    See proteins identical to NP_001029058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon, and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform gamma) is longer and has a distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    AL137026, AY644456, BC031072, DQ345518
    Consensus CDS
    CCDS31186.1
    UniProtKB/Swiss-Prot
    P48061
    Related
    ENSP00000363548, OTTHUMP00000216979, ENST00000374426, OTTHUMT00000358150
    Conserved Domains (1) summary
    cd00273
    Location:2788
    Blast Score: 148
    Chemokine_CXC; Chemokine_CXC: 1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members ...
  3. NM_001178134.1NP_001171605.1  stromal cell-derived factor 1 isoform delta precursor

    See proteins identical to NP_001171605.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment, which results in a frameshift, compared to variant 1. The resulting protein (isoform delta) is longer and has a distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    AI092156, DA266752, DQ345517
    Consensus CDS
    CCDS53527.1
    UniProtKB/Swiss-Prot
    P48061
    Related
    ENSP00000379140, OTTHUMP00000216980, ENST00000395794, OTTHUMT00000358151
    Conserved Domains (1) summary
    cd00273
    Location:2788
    Blast Score: 154
    Chemokine_CXC; Chemokine_CXC: 1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members ...
  4. NM_001277990.1NP_001264919.1  stromal cell-derived factor 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site and an alternate 3'-terminal exon, compared to variant 1. The resulting protein (isoform 5) is longer and has a distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    AK292628, AL137026, AU120056, L36033
    Consensus CDS
    CCDS60518.1
    UniProtKB/TrEMBL
    H7BYN8
    UniProtKB/Swiss-Prot
    P48061
  5. NM_199168.3NP_954637.1  stromal cell-derived factor 1 isoform alpha precursor

    See proteins identical to NP_954637.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shortest protein (isoform alpha).
    Source sequence(s)
    AI092156, AL137026, BC031072, BC039893
    Consensus CDS
    CCDS7207.1
    UniProtKB/Swiss-Prot
    P48061
    Related
    ENSP00000339913, OTTHUMP00000019491, ENST00000343575, OTTHUMT00000047737
    Conserved Domains (1) summary
    cd00273
    Location:2788
    Blast Score: 146
    Chemokine_CXC; Chemokine_CXC: 1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38 Primary Assembly

    Range
    44370153..44385097, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 Alternate HuRef

    Range
    41391945..41406899, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    44904782..44919728, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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