CD38 CD38 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD38provided by HGNC
Official Full Name: CD38 moleculeprovided by HGNC
Primary source: HGNC:HGNC:1667
See related: Ensembl:ENSG00000004468 MIM:107270; AllianceGenome:HGNC:1667
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: ADPRC1; cADPR1; ADPRC 1
Summary: The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Broad expression in lymph node (RPKM 11.2), brain (RPKM 10.3) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (15778328..15853232)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (15760485..15834815)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (15779951..15854855)

Chromosome 4 - NC_000004.12 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
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?

CD38 in SLE CD4 T cells promotes Ca[2+] flux and suppresses interleukin-2 production by enhancing the expression of GM2 on the surface membrane.
Title: CD38 in SLE CD4 T cells promotes Ca(2+) flux and suppresses interleukin-2 production by enhancing the expression of GM2 on the surface membrane.
CD38 genetic variation is associated with increased personal distress to an emotional stimulus.
Title: CD38 genetic variation is associated with increased personal distress to an emotional stimulus.
Increased expression of CD38 on endothelial cells in SARS-CoV-2 infection in cynomolgus macaques.
Title: Increased expression of CD38 on endothelial cells in SARS-CoV-2 infection in cynomolgus macaques.
CD38 promotes hematopoietic stem cell dormancy.
Title: CD38 promotes hematopoietic stem cell dormancy.
Evaluation of diagnostic potential of CD38 in rickets.
Title: Evaluation of diagnostic potential of CD38 in rickets.
Frequent, high density expression of surface CD38 as a potential therapeutic target in adult T-lineage acute lymphoblastic leukemia.
Title: Frequent, high density expression of surface CD38 as a potential therapeutic target in adult T-lineage acute lymphoblastic leukemia.
CD38 gene polymorphism rs1130169 contribution to the increased gene expression and risk of colorectal cancer (pilot study).
Title: CD38 gene polymorphism rs1130169 contribution to the increased gene expression and risk of colorectal cancer (pilot study).
Acquired CD38 gene deletion as a mechanism of tumor antigen escape in multiple myeloma.
Title: Acquired CD38 gene deletion as a mechanism of tumor antigen escape in multiple myeloma.
Prognostic Impact of CD38- and IgkappaC-Positive Tumor-Infiltrating Plasma Cells in Triple-Negative Breast Cancer.
Title: Prognostic Impact of CD38- and IgκC-Positive Tumor-Infiltrating Plasma Cells in Triple-Negative Breast Cancer.
A Population of Tumor-Infiltrating CD4+ T Cells Co-Expressing CD38 and CD39 Is Associated with Checkpoint Inhibitor Resistance.
Title: A Population of Tumor-Infiltrating CD4+ T Cells Co-Expressing CD38 and CD39 Is Associated with Checkpoint Inhibitor Resistance.

Submit: New GeneRIF Correction See all GeneRIFs (264)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 upregulates CD38 on CD4+ and CD8+ T lymphocytes as observed in clinical samples collected from HIV-1 infected patients	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of CD38 (ADPRC1) in human B cells	PubMed
	env	HIV-1 gp120-treated plasmacytoid dendritic cells show a reduced capacity to stimulate B cell growth and differentiation through downregulation of CD20 and CD38	PubMed
	env	HIV-1 gp120 induces CD4 association with lymphocyte surface molecules CD3, CD11a, CD27, CD45RA, CD45RB, CD45RO, CD49d, CD38, CD26, CD59, CD95 and class I MHC molecules	PubMed
	env	Treatment of CD4+ T cells with HIV-1 gp120 significantly increases CD4 association with CD3, CD45RA, CD45RB, CD59, CD38, CD26 and HLA class I, and decreases that with CD45RC	PubMed
	env	CD38 expression blocks lymphocyte susceptibility to HIV-1 infection by inhibiting HIV-1 gp120/CD4-dependent viral binding to target cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp140 upregulates the expression of the B cell activation marker CD38 and the memory B cell marker CD27	PubMed
Pr55(Gag)	gag	Depletion of HIV-specific CD8(+)/IL-10(+) cells from PBMCs leads to upregulation of CD38 on CD14(+) monocytes together with increased IL-6 production in response to HIV-1 gag stimulation	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of CD38 in primary human brain microvascular endothelial cells	PubMed
	tat	HIV-1 Tat is strongly associated with CD38 in HIV-1-infected lymphocytic cells	PubMed
	tat	Downregulation of CD38 expression is observed on CD8+ T cells from subjects immunized with HIV-1 Tat	PubMed
capsid	gag	HIV-1 CA is strongly associated with CD38 in HIV-1-infected lymphocytic cells	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

SHGC-16484 (e-PCR)
- UniSTS:82729

SHGC-50197 (e-PCR)
- UniSTS:82730

SHGC-67228 (e-PCR)
- UniSTS:83248

SHGC-59551 (e-PCR)
- UniSTS:16207

D4S2960 (e-PCR)
- UniSTS:4688

G33802 (e-PCR)
- UniSTS:16981

SHGC-31590 (e-PCR)
- UniSTS:44405

CD38_2675 (e-PCR)
- UniSTS:280484

AFM212YG7 (e-PCR)
- UniSTS:14028

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ nucleosidase activity	IEA Inferred from Electronic Annotation more info
enables NAD+ nucleotidase, cyclic ADP-ribose generating	TAS Traceable Author Statement more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables phosphorus-oxygen lyase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in B cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in NAD metabolic process	TAS Traceable Author Statement more info
involved_in apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in artery smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic depression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of bone resorption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to hydroperoxide	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nuclear 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	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1

Names: 2'-phospho-ADP-ribosyl cyclase; 2'-phospho-cyclic-ADP-ribose transferase; ADP-ribosyl cyclase 1; CD38 antigen (p45); NAD(+) nucleosidase; cluster of differentiation 38; cyclic ADP-ribose hydrolase 1; ecto-nicotinamide adenine dinucleotide glycohydrolase

NP_001766.2

EC 2.4.99.20

EC 3.2.2.6

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_001775.4 → NP_001766.2 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1

See identical proteins and their annotated locations for NP_001766.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.

Source sequence(s)

AC005798, AK303169, BC007964

Consensus CDS

CCDS3417.1

UniProtKB/Swiss-Prot

O00121, O00122, P28907, Q96HY4

UniProtKB/TrEMBL

B2R880

Related

ENSP00000226279.2, ENST00000226279.8

Conserved Domains (1) summary

pfam02267
Location:56 → 284

Rib_hydrolayse; ADP-ribosyl cyclase

RNA

NR_132660.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate, internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005798, AK303169, D84277