HDC histidine decarboxylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: HDCprovided by HGNC
Official Full Name: histidine decarboxylaseprovided by HGNC
Primary source: HGNC:HGNC:4855
See related: Ensembl:ENSG00000140287 MIM:142704; AllianceGenome:HGNC:4855
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
Summary: This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
Expression: Broad expression in gall bladder (RPKM 9.0), stomach (RPKM 6.4) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (50241947..50265726, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (48050179..48073964, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (50534144..50557923, complement)

Chromosome 15 - NC_000015.10 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?

The Hdc GC box is critical for Hdc gene transcription and histamine-mediated anaphylaxis.
Title: The Hdc GC box is critical for Hdc gene transcription and histamine-mediated anaphylaxis.
Correlation between histidine decarboxylase expression of keratinocytes and visual analogue scale in patients with atopic dermatitis.
Title: Correlation between histidine decarboxylase expression of keratinocytes and visual analogue scale in patients with atopic dermatitis.
Expression of histidine decarboxylase in melanocytes of the human skin.
Title: Expression of histidine decarboxylase in melanocytes of the human skin.
Study of the antitumour effects and the modulation of immune response by histamine in breast cancer.
Title: Study of the antitumour effects and the modulation of immune response by histamine in breast cancer.
Human histidine decarboxylase (HDC) and dopa decarboxilase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively. This review summarizes the analogies and differences in their origin as well as their common pathophysiological scenarios. [review]
Title: Structural and functional analogies and differences between histidine decarboxylase and aromatic l-amino acid decarboxylase molecular networks: Biomedical implications.
a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population
Title: Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study.
Human enterochromaffin-like cells appear to partially co-express VMAT-2 and HDC. Co-expression of VMAT-2 and HDC might be required for increased histamine production in patients with gastric neuroendocrine tumors.
Title: Histidine decarboxylase and urinary methylimidazoleacetic acid in gastric neuroendocrine cells and tumours.
The findings indicate that polymorphisms of HDC gene were significantly associated with breast cancer in Chinese Han population and may be novel diagnostic or therapeutic targets for breast cancer.
Title: Associations of polymorphisms in histidine decarboxylase, histamine N-methyltransferase and histamine receptor H3 genes with breast cancer.
HDC rs17740607 polymorphism is at least a partial loss-of-function variant and acts as a protective factor against chronic heart failure
Title: Relation of polymorphism of the histidine decarboxylase gene to chronic heart failure in Han Chinese.
Investigated variation across the HDC (histidine decarboxylase) gene for association with Tourette Syndrome.
Title: Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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

Associated conditions

Description	Tests
Tourette syndrome MedGen: C0040517 OMIM: 137580 GeneReviews: Not available	Compare labs

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

HDC_123 (e-PCR)
- UniSTS:277306

RH69151 (e-PCR)
- UniSTS:48262

D15S1162 (e-PCR)
- UniSTS:27551

D15S943 (e-PCR)
- UniSTS:65708

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histidine decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histidine decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amino acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in catecholamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in histamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in histamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in histamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in histidine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in histidine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in histidine metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: histidine decarboxylase

NP_001293075.1

EC 4.1.1.22

NP_002103.2

EC 4.1.1.22

XP_016877583.1

EC 4.1.1.22

XP_016877584.1

EC 4.1.1.22

XP_016877586.1

EC 4.1.1.22

XP_016877587.1

EC 4.1.1.22

XP_016877588.1

EC 4.1.1.22

XP_054233733.1

EC 4.1.1.22

XP_054233734.1

EC 4.1.1.22

XP_054233735.1

EC 4.1.1.22

XP_054233736.1

EC 4.1.1.22

XP_054233737.1

EC 4.1.1.22

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.

Genomic

NG_027487.1 RefSeqGene

Range

5240..29019

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001306146.2 → NP_001293075.1 histidine decarboxylase isoform 2

See identical proteins and their annotated locations for NP_001293075.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC022087, AK027221, BC144173

Consensus CDS

CCDS76754.1

UniProtKB/Swiss-Prot

P19113

Related

ENSP00000440252.1, ENST00000543581.5

Conserved Domains (1) summary

pfam00282
Location:36 → 381

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
NM_002112.4 → NP_002103.2 histidine decarboxylase isoform 1

See identical proteins and their annotated locations for NP_002103.2

Status: REVIEWED

Description

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

Source sequence(s)

AL041199, M60445

Consensus CDS

CCDS10134.1

UniProtKB/Swiss-Prot

A1L4G0, B7ZM01, P19113

Related

ENSP00000267845.3, ENST00000267845.8

Conserved Domains (1) summary

pfam00282
Location:36 → 414

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain