Q96QZ2 (Q96QZ2_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Sterolin 1 EMBL AAK85388.1

Gene names

Name:

ABCG5 EMBL AAK85388.1

Organism

Homo sapiens (Human) EMBL AAK85388.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	47 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Gene Ontology (GO)
Biological_process	cholesterol efflux Inferred from electronic annotation. Source: Compara excretion Inferred from electronic annotation. Source: Compara response to drug Inferred from electronic annotation. Source: Compara response to ionizing radiation Inferred from electronic annotation. Source: Compara response to nutrient Inferred from electronic annotation. Source: Compara
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	cholesterol transporter activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	47	1	EMBL AAK85388.1

Sequences

	Sequence		Length	Mass (Da)
	Q96QZ2 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: F2CCB0526221BDF1	FASTA	47	4,666
	10 20 30 40 MGDLSSLTPG GSMGLQVNRG SQSSLEGAPA TAPEPHSLGI LHASYSV

References

[1]

"Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively." Lu K., Lee M.-H., Hazard S., Brooks-Wilson A., Hidaka H., Kojima H., Ose L., Stalenhoef A.F.H., Mietinnen T., Bjorkhem I., Bruckert E., Pandya A., Brewer H.B. Jr., Salen G., Dean M., Srivastava A.K., Patel S.B. Am. J. Hum. Genet. 69:278-290(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE.

+

Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF404107 Genomic DNA. Translation: AAK85388.1.
IPI	IPI00007839.
UniGene	Hs.132992.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q96QZ2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Gene expression databases
ArrayExpress	Q96QZ2.
Bgee	Q96QZ2.
Family and domain databases
ProtoNet	Search...

Entry information

Entry name

Q96QZ2_HUMAN

Accession

Primary (citable) accession number: Q96QZ2

Entry history

Integrated into UniProtKB/TrEMBL:	December 1, 2001
Last sequence update:	December 1, 2001
Last modified:	April 3, 2013
This is version 34 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.