• Gene id: 3069

Gene Summary

• Gene Symbol: HDLBP   Gene   UCSC   Ensembl
• Aliases: HBP, PRO2900, VGL
• Gene name: high density lipoprotein binding protein
• Alternate names: vigilin, HDL-binding protein,
• Gene location: 2q37.3 (28855015: 28861060)     Exons: 10     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
• OMIM: 142695

Protein Summary

• Protein general information: Q00341  
  • Name: Vigilin (High density lipoprotein binding protein) (HDL binding protein)
  • Length: 1268  
  • Mass: 141456
• Sequence:

  MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPSGAWGNKIRPIKASV
  ITQVFHVPLEERKYKDMNQFGEGEQAKICLEIMQRTGAHLELSLAKDQGLSIMVSGKLDAVMKARKDIVARLQTQ
  ASATVAIPKEHHRFVIGKNGEKLQDLELKTATKIQIPRPDDPSNQIKITGTKEGIEKARHEVLLISAEQDKRAVE
  RLEVEKAFHPFIAGPYNRLVGEIMQETGTRINIPPPSVNRTEIVFTGEKEQLAQAVARIKKIYEEKKKKTTTIAV
  EVKKSQHKYVIGPKGNSLQEILERTGVSVEIPPSDSISETVILRGEPEKLGQALTEVYAKANSFTVSSVAAPSWL
  HRFIIGKKGQNLAKITQQMPKVHIEFTEGEDKITLEGPTEDVNVAQEQIEGMVKDLINRMDYVEINIDHKFHRHL
  IGKSGANINRIKDQYKVSVRIPPDSEKSNLIRIEGDPQGVQQAKRELLELASRMENERTKDLIIEQRFHRTIIGQ
  KGERIREIRDKFPEVIINFPDPAQKSDIVQLRGPKNEVEKCTKYMQKMVADLVENSYSISVPIFKQFHKNIIGKG
  GANIKKIREESNTKIDLPAENSNSETIIITGKRANCEAARSRILSIQKDLANIAEVEVSIPAKLHNSLIGTKGRL
  IRSIMEECGGVHIHFPVEGSGSDTVVIRGPSSDVEKAKKQLLHLAEEKQTKSFTVDIRAKPEYHKFLIGKGGGKI
  RKVRDSTGARVIFPAAEDKDQDLITIIGKEDAVREAQKELEALIQNLDNVVEDSMLVDPKHHRHFVIRRGQVLRE
  IAEEYGGVMVSFPRSGTQSDKVTLKGAKDCVEAAKKRIQEIIEDLEAQVTLECAIPQKFHRSVMGPKGSRIQQIT
  RDFSVQIKFPDREENAVHSTEPVVQENGDEAGEGREAKDCDPGSPRRCDIIIISGRKEKCEAAKEALEALVPVTI
  EVEVPFDLHRYVIGQKGSGIRKMMDEFEVNIHVPAPELQSDIIAITGLAANLDRAKAGLLERVKELQAEQEDRAL
  RSFKLSVTVDPKYHPKIIGRKGAVITQIRLEHDVNIQFPDKDDGNQPQDQITITGYEKNTEAARDAILRIVGELE
  QMVSEDVPLDHRVHARIIGARGKAIRKIMDEFKVDIRFPQSGAPDPNCVTVTGLPENVEEAIDHILNLEEEYLAD
  VVDSEALQVYMKPPAHEEAKAPSRGFVVRDAPWTASSSEKAPDMSSSEEFPSFGAQVAPKTLPWGPKR

• Structural information:
  • Protein Domains: (158..22-)
    (/note="KH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (230..30-)
    (/note="KH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (303..37-)
    (/note="KH-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (-)
  • Interpro: IPR004087  IPR004088  IPR036612  
  • Prosite: PS50084
  • PDB: 1VIG 1VIH 2CTE 2CTF 2CTJ 2CTK 2CTL 2CTM
  • PDBsum: 1VIG 1VIH 2CTE 2CTF 2CTJ 2CTK 2CTL 2CTM
  • STRING: ENSP00000375836
• Other Databases: GeneCards:  HDLBP  Malacards:  HDLBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005844	polysome	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0034364	high-density lipoprotein particle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008289	lipid binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0008203	cholesterol metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034384	high-density lipoprotein particle clearance	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray