AMBP alpha-1-microglobulin/bikunin precursor [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMBPprovided by HGNC
Official Full Name: alpha-1-microglobulin/bikunin precursorprovided by HGNC
Primary source: HGNC:HGNC:453
See related: Ensembl:ENSG00000106927 MIM:176870; AllianceGenome:HGNC:453
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: A1M; HCP; ITI; UTI; EDC1; HI30; ITIL; IATIL; ITILC
Summary: This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 2536.6) See more
Orthologs: mouse all
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Genomic context

Location:: 9q32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (114060127..114078300, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (126258798..126276960, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (116822407..116840580, complement)

Chromosome 9 - NC_000009.12 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: 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?

Correlation between peripheral blood alpha1-MG, DNMT1 expression, and the severity of diabetic nephropathy renal pathological damage.
Title: Correlation between peripheral blood α1-MG, DNMT1 expression, and the severity of diabetic nephropathy renal pathological damage.
Binding of the human antioxidation protein alpha1-microglobulin (A1M) to heparin and heparan sulfate. Mapping of binding site, molecular and functional characterization, and co-localization in vivo and in vitro.
Title: Binding of the human antioxidation protein α(1)-microglobulin (A1M) to heparin and heparan sulfate. Mapping of binding site, molecular and functional characterization, and co-localization in vivo and in vitro.
Human radical scavenger alpha1-microglobulin protects against hemolysis in vitro and alpha1-microglobulin knockout mice exhibit a macrocytic anemia phenotype.
Title: Human radical scavenger α(1)-microglobulin protects against hemolysis in vitro and α(1)-microglobulin knockout mice exhibit a macrocytic anemia phenotype.
Ferryl Hemoglobin and Heme Induce A1-Microglobulin in Hemorrhaged Atherosclerotic Lesions with Inhibitory Function against Hemoglobin and Lipid Oxidation.
Title: Ferryl Hemoglobin and Heme Induce A(1)-Microglobulin in Hemorrhaged Atherosclerotic Lesions with Inhibitory Function against Hemoglobin and Lipid Oxidation.
The Role of alpha1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions.
Title: The Role of α(1)-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions.
Hemopexin and alpha1-microglobulin heme scavengers with differential involvement in preeclampsia and fetal growth restriction.
Title: Hemopexin and α1-microglobulin heme scavengers with differential involvement in preeclampsia and fetal growth restriction.
Alpha-1 microglobulin as a potential therapeutic candidate for treatment of hypertension and oxidative stress in the STOX1 preeclampsia mouse model.
Title: Alpha-1 microglobulin as a potential therapeutic candidate for treatment of hypertension and oxidative stress in the STOX1 preeclampsia mouse model.
This study suggests that serum hypersensitive CRP levels independently associate with Urinary A1MG in patients with Type 2 Diabetes Mellitus.
Title: The Association of Serum hsCRP and Urinary Alpha1-Microglobulin in Patients with Type 2 Diabetes Mellitus.
possible association between AMBP SNP haplotypes and gene-environment interactions with atherothrombotic stroke susceptibility in a Han Chinese cohort
Title: The Effect of AMBP SNPs, Their Haplotypes, and Gene-Environment Interactions on the Risk of Atherothrombotic Stroke Among the Chinese Population.
AMBP mRNA and protein levels were found to be significantly lower in the oral squamous cell carcinoma (OSCC) tumors and cell lines. The underexpression of AMBP was significantly associated with a high metastatic potential to cervical lymph nodes and a poor overall survival. AMBP was suggested to play an important role in the invasive and migratory ability of OSCC cells.
Title: Underexpression of α-1-microglobulin/bikunin precursor predicts a poor prognosis in oral squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (62)

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

AMBP (e-PCR)
- UniSTS:266679

STS-M88249 (e-PCR)
- UniSTS:74475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables IgA binding	IDA Inferred from Direct Assay more info	PubMed
enables antioxidant activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel inhibitor activity	NAS Non-traceable Author Statement more info	PubMed
enables calcium oxalate binding	NAS Non-traceable Author Statement more info	PubMed
enables carbohydrate binding	EXP Inferred from Experiment more info	PubMed
enables chondroitin sulfate binding	IDA Inferred from Direct Assay more info	PubMed
enables collagen fibril binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables serine-type endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in cytochrome c metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in female pregnancy	NAS Non-traceable Author Statement more info	PubMed
involved_in heme catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in hemoglobin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of JNK cascade	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of immune response	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in matrix side of mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
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	PubMed

General protein information

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Preferred Names: protein AMBP

Names: bikunin; complex-forming glycoprotein heterogeneous in charge; growth-inhibiting protein 19; inter-alpha-trypsin inhibitor light chain; protein HC; trypstatin; uristatin; uronic-acid-rich protein

NP_001624.1

EC 1.6.2.-

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_001633.4 → NP_001624.1 protein AMBP preproprotein

See identical proteins and their annotated locations for NP_001624.1

Status: REVIEWED

Source sequence(s)

BC041593

Consensus CDS

CCDS6800.1

UniProtKB/Swiss-Prot

P00977, P02759, P02760, P78491, Q2TU33, Q5TBD7, Q9UC58, Q9UDI8

Related

ENSP00000265132.3, ENST00000265132.8

Conserved Domains (4) summary

cd00109
Location:229 → 282

KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.

pfam00014
Location:286 → 338

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam00061
Location:42 → 186

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

cl21528
Location:22 → 48

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family