• Gene id: 259

Gene Summary

• Gene Symbol: AMBP   Gene   UCSC   Ensembl
• Aliases: A1M, EDC1, HCP, HI30, IATIL, ITI, ITIL, ITILC, UTI
• Gene name: alpha-1-microglobulin/bikunin precursor
• Alternate names: protein AMBP, 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,
• Gene location: 9q32 (114078299: 114060126)     Exons: 10     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 610084

SNPs

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

Protein Summary

• Protein general information: P02760  
  • Name: Protein AMBP [Cleaved into: Alpha 1 microglobulin (Protein HC) (Alpha 1 microglycoprotein) (Complex forming glycoprotein heterogeneous in charge); Inter alpha trypsin inhibitor light chain (ITI LC) (Bikunin) (EDC1) (HI 30) (Uronic acid rich protein); Tryp
  • Length: 352  
  • Mass: 38999
  • Tissue specificity: Expressed by the liver and secreted in plasma. Alpha-1-microglobulin occurs in many physiological fluids including plasma, urine, and cerebrospinal fluid. Inter-alpha-trypsin inhibitor is present in plasma and urine.
• Sequence:

  MRSLGALLLLLSACLAVSAGPVPTPPDNIQVQENFNISRIYGKWYNLAIGSTCPWLKKIMDRMTVSTLVLGEGAT
  EAEISMTSTRWRKGVCEETSGAYEKTDTDGKFLYHKSKWNITMESYVVHTNYDEYAIFLTKKFSRHHGPTITAKL
  YGRAPQLRETLLQDFRVVAQGVGIPEDSIFTMADRGECVPGEQEPEPILIPRVRRAVLPQEEEGSGGGQLVTEVT
  KKEDSCQLGYSAGPCMGMTSRYFYNGTSMACETFQYGGCMGNGNNFVTEKECLQTCRTVAACNLPIVRGPCRAFI
  QLWAFDAVKGKCVLFPYGGCQGNGNKFYSEKECREYCGVPGDGDEELLRFSN

• Structural information:
  • Protein Domains: (231..28-)
    1 (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031-)
    (287..33-)
    2 (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031"-)
  • Interpro: IPR002968  IPR029856  IPR012674  IPR002223  IPR036880   IPR022272  IPR000566  IPR020901  
  • Prosite: PS00280 PS50279 PS00213
  • CDD: cd00109
  • PDB: 1BIK 3QKG 4ES7 4U30 6EJ7 6EJ8 6EJ9 6EJA 6EJB 6EJC 6EJD
  • PDBsum: 1BIK 3QKG 4ES7 4U30 6EJ7 6EJ8 6EJ9 6EJA 6EJB 6EJC 6EJD
  • STRING: ENSP00000265132
• Other Databases: GeneCards:  AMBP  Malacards:  AMBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0018298	protein-chromophore linkage	IEA	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0030163	protein catabolic process	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0019862	IgA binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0019855	calcium channel inhibitor activity	NAS	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0050777	negative regulation of immune response	NAS	biological process
GO:0046329	negative regulation of JNK cascade	TAS	biological process
GO:0042167	heme catabolic process	NAS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007565	female pregnancy	NAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0046904	calcium oxalate binding	NAS	molecular function

Diseases

Associated diseases	References
Kidney failure	PMID:18046670
Adult respiratory distress syndrome	PMID:15710155
Asthma	PMID:14621078
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq