• Gene id: 9910

Gene Summary

• Gene Symbol: RABGAP1L   Gene   UCSC   Ensembl
• Aliases: HHL, TBC1D18
• Gene name: RAB GTPase activating protein 1 like
• Alternate names: rab GTPase-activating protein 1-like, TBC1 domain family, member 18, expressed in hematopoietic cells, heart, liver (HLL),
• Gene location: 1q25.1 (174159413: 174995307)     Exons: 40     NC_000001.11
• OMIM: 609238

Protein Summary

• Protein general information: B7ZAP0  
  • Name: Rab GTPase activating protein 1 like, isoform 10
  • Length: 253  
  • Mass: 29038
• Sequence:

  MIENSSWSMTFEERENRRLQEASMRLEQENDDLAHELVTSKIALRNDLDQAEDKADVLNKELLLTKQRLVETEEE
  KRKQEEETAQLKEVFRKQLEKAEYEIKKTTAIIAEYKQICSQLSTRLEKQQAASKEELEVVKGKMMACKHCSDIF
  SKEGALKLAATGREDQGIETDDEKDSLKKQLREMELELAQTKLQLVEAKCKIQELEHQRGALMNEIQAAKNSWFS
  KTLNSIKTATGTQPLQPAPVTQPPKEST

• Other Databases: GeneCards:  RABGAP1L  Malacards:  RABGAP1L
• Protein general information: Q5R372  
  
  Name: Rab GTPase activating protein 1 like
  
  Length: 815  Mass: 92513
• Sequence: MEVRASLQKVSGSSDSVATMNSEEFVLVPQYADDNSTKHEEKPQLKIVSNGDEQLEKAMEEILRDSEKRPSSLLV
  DCQSSSEISDHSFGDIPASQTNKPSLQLILDPSNTEISTPRPSSPGGLPEEDSVLFNKLTYLGCMKVSSPRNEVE
  ALRAMATMKSSSQYPFPVTLYVPNVPEGSVRIIDQSSNVEIASFPIYKVLFCARGHDGTTESNCFAFTESSHGSE
  EFQIHVFSCEIKEAVSRILYSFCTAFKRSSRQVSDVKDSVIPTPDSDVFTFSVSLEVKEDDGKGNFSPVPKDRDK
  FYFKLKQGIEKKVVITVQQLSNKELAIERCFGMLLSPGRNVKNSDMHLLDMESMGKSYDGRAYVITGMWNPNAPV
  FLALNEETPKDKQVYMTVAVDMVVTEVVEPVRFLLETVVRVYPANERFWYFSRKTFTETFFMRLKQSEGKGHTNA
  GDAIYEVVSLQRESDKEEPVTPTSGGGPMSPQDDEAEEESDNELSSGTGDVSKDCPEKILYSWGELLGKWHSNLG
  ARPKGLSTLVKSGVPEALRAEVWQLLAGCHDNQAMLDRYRILITKDSAQESVITRDIHRTFPAHDYFKDTGGDGQ
  ESLYKICKAYSVYDEDIGYCQGQSFLAAVLLLHMPEEQAFCVLVKIMYDYGLRDLYRNNFEDLHCKFYQLERLMQ
  EQLPDLHSHFSDLNLEAHMYASQWFLTLFTAKFPLCMVFHIIDLLLCEGLNIIFHVALALLKTSKEDLLQADFEG
  ALKFFRVQLPKRYRAEENARRLMEQACNIKVPTKKLKKYEKEYQTMRESQLQQEDPMDRYKFVYL
• Structural information:

  Protein Domains	(126..28-) (/note="PID-) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148-) (538..72-) (/note="Rab-GAP-TBC) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  Interpro:	IPR022164  IPR011993  IPR006020  IPR000195  IPR035969   IPR042809
  Prosite:	PS01179 PS50086
  PDB:	3HZJ
  PDBsum:	3HZJ
  STRING:	ENSP00000251507

• Other Databases: GeneCards:  RABGAP1L  Malacards:  RABGAP1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0090630	activation of GTPase activity	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0032880	regulation of protein localization	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005769	early endosome	IEA	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq