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Q9H172 (ABCG4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family G member 4
Gene names
Name:ABCG4
Synonyms:WHITE2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length646 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in macrophage lipid homeostasis.

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

Highly expressed in brain tissues with the exception of the spinal cord. Ref.5

Sequence similarities

Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. [View classification]

Contains 1 ABC transmembrane type-2 domain.

Contains 1 ABC transporter domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ABCG1P45844-42EBI-8584118,EBI-8584087

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H172-1)

Also known as: B;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H172-2)

Also known as: T3; T4;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MRDLELREVKQLARGHTA
Isoform 3 (identifier: Q9H172-3)

Also known as: M; T1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MCGFSHAFQKRIVAS
Isoform 4 (identifier: Q9H172-4)

Also known as: T2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 646646ATP-binding cassette sub-family G member 4
PRO_0000093392

Regions

Topological domain1 – 393393Cytoplasmic Potential
Transmembrane394 – 41421Helical; Name=1; Potential
Topological domain415 – 42511Extracellular Potential
Transmembrane426 – 44621Helical; Name=2; Potential
Topological domain447 – 47226Cytoplasmic Potential
Transmembrane473 – 49321Helical; Name=3; Potential
Topological domain494 – 50310Extracellular Potential
Transmembrane504 – 52421Helical; Name=4; Potential
Topological domain525 – 5328Cytoplasmic Potential
Transmembrane533 – 55321Helical; Name=5; Potential
Topological domain554 – 61764Extracellular Potential
Transmembrane618 – 63821Helical; Name=6; Potential
Topological domain639 – 6468Cytoplasmic Potential
Domain61 – 301241ABC transporter
Domain386 – 641256ABC transmembrane type-2
Nucleotide binding102 – 1098ATP Potential

Amino acid modifications

Glycosylation4221N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 100100Missing in isoform 4.
VSP_054266
Alternative sequence1 – 7979MAEKA…CWRKR → MRDLELREVKQLARGHTA in isoform 2.
VSP_054267
Alternative sequence1 – 7979MAEKA…CWRKR → MCGFSHAFQKRIVAS in isoform 3.
VSP_054268
Natural variant3521P → L.
Corresponds to variant rs35060365 [ dbSNP | Ensembl ].
VAR_048141

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (B) [UniParc].

Last modified December 5, 2001. Version 2.
Checksum: 9CCEC6E150772611

FASTA64671,896
        10         20         30         40         50         60 
MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF SHLPKRSAVD 

        70         80         90        100        110        120 
IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI MGPSGAGKST FMNILAGYRE 

       130        140        150        160        170        180 
SGMKGQILVN GRPRELRTFR KMSCYIMQDD MLLPHLTVLE AMMVSANLKL SEKQEVKKEL 

       190        200        210        220        230        240 
VTEILTALGL MSCSHTRTAL LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV 

       250        260        270        280        290        300 
SLMKSLAQGG RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP 

       310        320        330        340        350        360 
TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP CPPCPPEVDP 

       370        380        390        400        410        420 
IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV VIGVLIGLLY LHIGDDASKV 

       430        440        450        460        470        480 
FNNTGCLFFS MLFLMFAALM PTVLTFPLEM AVFMREHLNY WYSLKAYYLA KTMADVPFQV 

       490        500        510        520        530        540 
VCPVVYCSIV YWMTGQPAET SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV 

       550        560        570        580        590        600 
TAIPVLLFSG FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR 

       610        620        630        640 
EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSER 

« Hide

Isoform 2 (T3) (T4) [UniParc].

Checksum: D5F84C0CCADAB9A3
Show »

FASTA58565,389
Isoform 3 (M) (T1) [UniParc].

Checksum: AA379CF6C876A9EE
Show »

FASTA58264,948
Isoform 4 (T2) [UniParc].

Checksum: BCDB4BCAA06C46B3
Show »

FASTA54660,903

References

« Hide 'large scale' references
[1]"The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages."
Engel T., Lorkowski S., Lueken A., Rust S., Schlueter B., Berger G., Cullen P., Assmann G.
Biochem. Biophys. Res. Commun. 288:483-488(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain and Hippocampus.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[5]"Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4."
Annilo T., Tammur J., Hutchinson A., Rzhetsky A., Dean M., Allikmets R.
Cytogenet. Cell Genet. 94:196-201(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-118 (ISOFORMS 2; 3 AND 4), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
Tissue: Lung.
[6]"ABCG4: a novel human white family ABC-transporter expressed in the brain and eye."
Oldfield S., Lowry C., Ruddick J., Lightman S.
Biochim. Biophys. Acta 1591:175-179(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-646 (ISOFORM 1).
Tissue: Spinal ganglion.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ308237 mRNA. Translation: CAC87131.1.
AK289830 mRNA. Translation: BAF82519.1.
AK290035 mRNA. Translation: BAF82724.1.
CH471065 Genomic DNA. Translation: EAW67464.1.
CH471065 Genomic DNA. Translation: EAW67465.1.
CH471065 Genomic DNA. Translation: EAW67466.1.
BC041091 mRNA. Translation: AAH41091.1.
AY055472 Genomic DNA. Translation: AAL16400.1.
AY055472 Genomic DNA. Translation: AAL16401.1.
AY055472 Genomic DNA. Translation: AAL16402.1.
AJ300465 mRNA. Translation: CAC17140.1.
PIRJC7777.
RefSeqNP_001135977.1. NM_001142505.1.
NP_071452.2. NM_022169.4.
UniGeneHs.126378.

3D structure databases

ProteinModelPortalQ9H172.
SMRQ9H172. Positions 52-331.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9H172. 1 interaction.
MINTMINT-2840344.
STRING9606.ENSP00000304111.

PTM databases

PhosphoSiteQ9H172.

Polymorphism databases

DMDM17432915.

Proteomic databases

PaxDbQ9H172.
PRIDEQ9H172.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307417; ENSP00000304111; ENSG00000172350.
ENST00000449422; ENSP00000406874; ENSG00000172350.
ENST00000531739; ENSP00000434318; ENSG00000172350.
GeneID64137.
KEGGhsa:64137.
UCSCuc001pvs.3. human.

Organism-specific databases

CTD64137.
GeneCardsGC11P119019.
HGNCHGNC:13884. ABCG4.
HPAHPA040312.
MIM607784. gene.
neXtProtNX_Q9H172.
PharmGKBPA24410.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000236364.
HOVERGENHBG103052.
InParanoidQ9H172.
KOK05680.
OMAHLRFVSH.
OrthoDBEOG7KWSGT.
PhylomeDBQ9H172.
TreeFamTF105210.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9H172.
BgeeQ9H172.
CleanExHS_ABCG4.
GenevestigatorQ9H172.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF01061. ABC2_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCG4.
GenomeRNAi64137.
NextBio66038.
PROQ9H172.
SOURCESearch...

Entry information

Entry nameABCG4_HUMAN
AccessionPrimary (citable) accession number: Q9H172
Secondary accession number(s): A8K1B5 expand/collapse secondary AC list , Q8WWH0, Q8WWH1, Q8WWH2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: December 5, 2001
Last modified: April 16, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM