• Gene id: 444

Gene Summary

• Gene Symbol: ASPH   Gene   UCSC   Ensembl
• Aliases: AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
• Gene name: aspartate beta-hydroxylase
• Alternate names: aspartyl/asparaginyl beta-hydroxylase, A beta H-J-J, ASP beta-hydroxylase, cardiac junctin, humbug, junctate, peptide-aspartate beta-dioxygenase,
• Gene location: 8q12.3 (61714639: 61500555)     Exons: 33     NC_000008.11
• Gene summary(Entrez): This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substa
• OMIM: 102772

SNPs

rs397515565

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

NC_000017.11   g.74310164G>A
NC_000017.11   g.74310164G>C
NC_000017.11   g.74310164G>T
NC_000017.10   g.72306303G>A
NC_000017.10   g.72306303G>C
NC_000017.10   g.72306303G>T
NG_016865.1   g.40918G>A
NG_016865.1   g.40918G>C
NG_016865.1   g.40918G>T|SEQ=[G/A/C/T]|GENE=

rs137852998

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

NC_000017.11   g.74299780C>G
NC_000017.11   g.74299780C>T
NC_000017.10   g.72295919C>G
NC_000017.10   g.72295919C>T
NG_016865.1   g.30534C>G
NG_016865.1   g.30534C>T
NM_023036.5   c.787C>G
NM_023036.5   c.787C>T
NM_023036.6   c.787C>G
NM_023036.6   c.787C>T
NM_023036.4  

rs662

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

NC_000007.14   g.95308134T>A
NC_000007.14   g.95308134T>C
NC_000007.14   g.95308134T>G
NC_000007.13   g.94937446T>A
NC_000007.13   g.94937446T>C
NC_000007.13   g.94937446T>G
NG_008779.2   g.21573A>T
NG_008779.2   g.21573A>G
NG_008779.2   g.21573A>C
NM_000446.7   c.575A>

Protein Summary

• Protein general information: Q12797  
  • Name: Aspartyl/asparaginyl beta hydroxylase (EC 1.14.11.16) (Aspartate beta hydroxylase) (ASP beta hydroxylase) (Peptide aspartate beta dioxygenase)
  • Length: 758  
  • Mass: 85863
  • Tissue specificity: Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level). {ECO
• Sequence:

  MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVVWF
  DLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVPPEEAEPHTEPEEQVPVEAEPQNIEDEAKEQ
  IQSLLHEMVHAEHVEGEDLQQEDGPTGEPQQEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQD
  MEEMMSEQENPDSSEPVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
  FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEAVNAFKELVRKYPQSP
  RARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLKLSLKRRSDRQQFLGHMRGSLLTLQRLVQLF
  PNDTSLKNDLGVGYLLIGDNDNAKKVYEEVLSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDG
  RFYFHLGDAMQRVGNKEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
  GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGCRRGQIKYSIMHPGTH
  VWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFDDSFEHEVWQDASSFRLIFIVDVWHPELTPQ
  QRRSLPAI

• Structural information:
  • Interpro: IPR007943  IPR007803  IPR039038  IPR027443  IPR013026   IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • PDB: 5APA 5JQY 5JTC 5JZ6 5JZ8 5JZA 5JZU 6Q9F 6Q9I 6QA5 6RK9
  • PDBsum: 5APA 5JQY 5JTC 5JZ6 5JZ8 5JZA 5JZU 6Q9F 6Q9I 6QA5 6RK9
  • STRING: ENSP00000368767
• Other Databases: GeneCards:  ASPH  Malacards:  ASPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004597	peptide-aspartate beta-dioxygenase activity	IBA	molecular function
GO:0042264	peptidyl-aspartic acid hydroxylation	IBA	biological process
GO:0032541	cortical endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0004597	peptide-aspartate beta-dioxygenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0018193	peptidyl-amino acid modification	IEA	biological process
GO:0042264	peptidyl-aspartic acid hydroxylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0004597	peptide-aspartate beta-dioxygenase activity	TAS	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0004597	peptide-aspartate beta-dioxygenase activity	IEA	molecular function
GO:0062101	peptidyl-aspartic acid 3-dioxygenase activity	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1901879	regulation of protein depolymerization	IEA	biological process
GO:0060325	face morphogenesis	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0042264	peptidyl-aspartic acid hydroxylation	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0097202	activation of cysteine-type endopeptidase activity	IDA	biological process
GO:0045862	positive regulation of proteolysis	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0005509	calcium ion binding	NAS	molecular function
GO:0009055	electron transfer activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
FDLAB syndrome	KEGG:H02255
FDLAB syndrome	KEGG:H02255
cholangiocarcinoma	PMID:21898484
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881