• Gene id: 23526

Gene Summary

• Gene Symbol: ARHGAP45   Gene   UCSC   Ensembl
• Aliases: HA-1, HLA-HA1, HMHA1
• Gene name: Rho GTPase activating protein 45
• Alternate names: rho GTPase-activating protein 45, histocompatibility (minor) HA-1, minor histocompatibility antigen HA-1, minor histocompatibility protein HA-1,
• Gene location: 19p13.3 (1065958: 1087830)     Exons: 27     NC_000019.10
• OMIM: 601155

Protein Summary

• Protein general information: Q92619  
  • Name: Rho GTPase activating protein 45 [Cleaved into: Minor histocompatibility antigen HA 1 (mHag HA 1)]
  • Length: 1136  
  • Mass: 124614
  • Tissue specificity: Expressed on cells of the hematopoietic lineage. Detected in dendritic cells and epidermal Langerhans cells. Expressed in peripheral blood mononuclear cells, in all leukemia/lymphoma cell lines. Detected also in some solid tumors and t
• Sequence:

  MFSRKKRELMKTPSISKKNRAGSPSPQPSGELPRKDGADAVFPGPSLEPPAGSSGVKATGTLKRPTSLSRHASAA
  GFPLSGAASWTLGRSHRSPLTAASPGELPTEGAGPDVVEDISHLLADVARFAEGLEKLKECVLRDDLLEARRPRA
  HECLGEALRVMHQIISKYPLLNTVETLTAAGTLIAKVKAFHYESNNDLEKQEFEKALETIAVAFSSTVSEFLMGE
  VDSSTLLAVPPGDSSQSMESLYGPGSEGTPPSLEDCDAGCLPAEEVDVLLQRCEGGVDAALLYAKNMAKYMKDLI
  SYLEKRTTLEMEFAKGLQKIAHNCRQSVMQEPHMPLLSIYSLALEQDLEFGHSMVQAVGTLQTQTFMQPLTLRRL
  EHEKRRKEIKEAWHRAQRKLQEAESNLRKAKQGYVQRCEDHDKARFLVAKAEEEQAGSAPGAGSTATKTLDKRRR
  LEEEAKNKAEEAMATYRTCVADAKTQKQELEDTKVTALRQIQEVIRQSDQTIKSATISYYQMMHMQTAPLPVHFQ
  MLCESSKLYDPGQQYASHVRQLQRDQEPDVHYDFEPHVSANAWSPVMRARKSSFNVSDVARPEAAGSPPEEGGCT
  EGTPAKDHRAGRGHQVHKSWPLSISDSDSGLDPGPGAGDFKKFERTSSSGTMSSTEELVDPDGGAGASAFEQADL
  NGMTPELPVAVPSGPFRHEGLSKAARTHRLRKLRTPAKCRECNSYVYFQGAECEECCLACHKKCLETLAIQCGHK
  KLQGRLQLFGQDFSHAARSAPDGVPFIVKKCVCEIERRALRTKGIYRVNGVKTRVEKLCQAFENGKELVELSQAS
  PHDISNVLKLYLRQLPEPLISFRLYHELVGLAKDSLKAEAEAKAASRGRQDGSESEAVAVALAGRLRELLRDLPP
  ENRASLQYLLRHLRRIVEVEQDNKMTPGNLGIVFGPTLLRPRPTEATVSLSSLVDYPHQARVIETLIVHYGLVFE
  EEPEETPGGQDESSNQRAEVVVQVPYLEAGEAVVYPLQEAAADGCRESRVVSNDSDSDLEEASELLSSSEASALG
  HLSFLEQQQSEASLEVASGSHSGSEEQLEATAREDGDGDEDGPAQQLSGFNTNQSNNVLQAPLPPMRLRGGRMTL
  GSCRERQPEFV

• Structural information:
  • Protein Domains: (269..53-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (761..97-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR002219  IPR008936   IPR000198  
  • Prosite: PS51741 PS50238 PS00479 PS50081
  • CDD: cd00029
  • PDB: 3D25 3FT3
  • PDBsum: 3D25 3FT3
  • STRING: ENSP00000439601
• Other Databases: GeneCards:  ARHGAP45  Malacards:  ARHGAP45

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq