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Q8K448 (ABCA5_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 5
Gene names
Name:Abca5
Synonyms:Kiaa1888
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1642 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in the processing of autolysosomes. Ref.2

Subcellular location

Golgi apparatus membrane; Multi-pass membrane protein By similarity. Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein Ref.2.

Tissue specificity

Expressed in cardiomyocytes, oligodendrocytes and astrocytes in brain, alveolar type 2 cells in lung and follicular cells in the thyroid gland (at protein level). Detected in brain, testis, lung, heart, liver, kidney, skeletal muscle and placenta. Ref.1 Ref.2

Developmental stage

Expressed during embryogenesis. Ref.1

Induction

Down-regulated by digoxin. Ref.6

Post-translational modification

N-glycosylated. Ref.2

Disruption phenotype

Mice display hypothyroidism and lethal heart abnormalities that may be due to altered autolysosomes processing. Ref.2

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

The sequence BAC28896.2 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16421642ATP-binding cassette sub-family A member 5
PRO_0000250670

Regions

Transmembrane32 – 5221Helical; Potential
Transmembrane220 – 24021Helical; Potential
Transmembrane264 – 28421Helical; Potential
Transmembrane297 – 31721Helical; Potential
Transmembrane328 – 34821Helical; Potential
Transmembrane355 – 37521Helical; Potential
Transmembrane396 – 41621Helical; Potential
Transmembrane864 – 88421Helical; Potential
Transmembrane967 – 98721Helical; Potential
Transmembrane1021 – 104121Helical; Potential
Transmembrane1071 – 109121Helical; Potential
Transmembrane1102 – 112221Helical; Potential
Transmembrane1138 – 115821Helical; Potential
Transmembrane1164 – 118421Helical; Potential
Transmembrane1207 – 122721Helical; Potential
Domain478 – 713236ABC transporter 1
Domain1290 – 1533244ABC transporter 2
Nucleotide binding514 – 5218ATP 1 Potential
Nucleotide binding1333 – 13408ATP 2 Potential

Amino acid modifications

Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation3881N-linked (GlcNAc...) Potential
Glycosylation4581N-linked (GlcNAc...) Potential
Glycosylation9191N-linked (GlcNAc...) Potential
Glycosylation9961N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict961S → C in BAC32984. Ref.3
Sequence conflict1131K → E in BAE41431. Ref.3
Sequence conflict1321K → E in BAC32984. Ref.3
Sequence conflict1881K → E in AAM90895. Ref.1
Sequence conflict3031F → V in AAM90895. Ref.1
Sequence conflict3841A → P in BAC32984. Ref.3
Sequence conflict5301L → P in AAM90895. Ref.1
Sequence conflict5511M → I in AAM90895. Ref.1
Sequence conflict8091E → G in AAM90895. Ref.1
Sequence conflict8391L → P in AAM90895. Ref.1
Sequence conflict8561K → N in AAM90895. Ref.1
Sequence conflict8801F → V in AAM90895. Ref.1
Sequence conflict12311I → K in AAH64823. Ref.4
Sequence conflict15031V → G in AAM90895. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8K448 [UniParc].

Last modified October 3, 2006. Version 2.
Checksum: 177A5FC0B075DFC5

FASTA1,642185,895
        10         20         30         40         50         60 
MATAIRDVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILVS MMHPNKKYEE 

        70         80         90        100        110        120 
VSDIELSPMD KFSLSNVILG YTPVTNITSS IMQRVSTDHL PKVIVTEEYA NEKELVAASL 

       130        140        150        160        170        180 
SKSSNFVGVV FKDTMSYELR FFPEMIPVSS IYMNSREGCS KTCDAAQYWS LGFTVLQASI 

       190        200        210        220        230        240 
DAAIIQLKTN VSVWSELEST KAVIMGEAAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI 

       250        260        270        280        290        300 
VAEKEKKLKE FLKIMGLHDT AFWLSWVLLY ASLIFLMSLL MAVIATASSL FPQSSSIVIF 

       310        320        330        340        350        360 
LLFFLYGLSS VFFALMLTPL FKKSKHVGVV EFFVTVVFGF VGLLIVLIES FPRSLVWLFS 

       370        380        390        400        410        420 
PLCQCAFLIG IAQVMHLEDF NEGALFSNLT EGPYPLIITI IMLALDSVFY VLLAVYLDQV 

       430        440        450        460        470        480 
IPGEFGLRRS SLYFLKPSYW SKNKRNYKEL SEGNINGNIS LNEIVEPVSS EFIGKEAIRI 

       490        500        510        520        530        540 
SGIQKSYRKK TENVEALRNL SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI 

       550        560        570        580        590        600 
YGHRVSEIDE MFEARKMIGI CPQSDINFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 

       610        620        630        640        650        660 
DLDMQAIKDN QAKKLSGGQK RKLSVGIAVL GNPKILLLDE PTAGMDPCSR HIVWNLLKYR 

       670        680        690        700        710        720 
KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSIFL KSKWGIGYRL SMYIDRYCAT 

       730        740        750        760        770        780 
ESLSSLVRQH IPAAALLQQN DQQLVYSLPF KDMDKFSGLF SALDIHSNLG VISYGVSMTT 

       790        800        810        820        830        840 
LEDVFLKLEV EAEIDQADYS VFTQQPREEE TDSKSFDEME QSLLILSETK ASSVSTMSLW 

       850        860        870        880        890        900 
KQQVSTIAKF HFLSLKRESK SVRAVLLLLL IFFAVQIFMF FLHHSFKNAV VPIKLVPDLY 

       910        920        930        940        950        960 
FLKPGDKPHK YKTSLLLQNS TDSDINGLIE FFAHQNIMVA MFNDSDYVSA APHSAALNVV 

       970        980        990       1000       1010       1020 
RSEKDYVFSA VFNSTMVYCL PVMMNIISNY YLYHLNVTEA IQTWSTPFIQ EITDIVFKIE 

      1030       1040       1050       1060       1070       1080 
LYFQAALLGI IVTAMPPYFA MENAENHKIK AYTQLKLSGL LPSAYWVGQA VVDIPLFFVV 

      1090       1100       1110       1120       1130       1140 
LILMLGSLFA FHHGLYFYPA KFLAVVFCLI AYVPSVILFT YIASFTFKKI LNTKEFWSFI 

      1150       1160       1170       1180       1190       1200 
YSVTALACVA ITETTFFLQY AVTAVFHYTF CIAIPIYPLL GCLISFIKGS WKNMPKNENT 

      1210       1220       1230       1240       1250       1260 
YNPWDRLLVA VIMPYLQCIL WIFLLQHYEK IHGGRSIRKD PFFRALSQKA KNKKFPEPPI 

      1270       1280       1290       1300       1310       1320 
NEDEDEDVKA ERLKVKELMG CQCCEEKPAI MVCNLHKEYD DKKDFLHSRK TTKVATKYIS 

      1330       1340       1350       1360       1370       1380 
FCVKKGEILG LLGPNGAGKS TVINTLVGDV EPTSGKIFLG DYGSHSSEDD ESIKCMGYCP 

      1390       1400       1410       1420       1430       1440 
QTNPLWPDLT LQEHFEIYGA VKGMSPGDMK EVISRITKAL DLKEHLQKTV KKLPAGIKRK 

      1450       1460       1470       1480       1490       1500 
LCFALSMLGN PQVTLLDEPS TGMDPRAKQH MWRAIRTAFK NKKRAALLTT HYMEEAEAVC 

      1510       1520       1530       1540       1550       1560 
DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEIDRLQREI QYIFPNASRQ 

      1570       1580       1590       1600       1610       1620 
ESFSSILAFK IPKEDVQSLS QSFAKLEEAK RTFAIEEYSF SQATLEQVFV ELTKEQEEED 

      1630       1640 
NSCGTLASTL WWERTQEDRV VF 

« Hide

References

« Hide 'large scale' references
[1]"Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes."
Annilo T., Chen Z.-Q., Shulenin S., Dean M.
Mamm. Genome 14:7-20(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Strain: BALB/c.
Tissue: Liver.
[2]"ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms."
Kubo Y., Sekiya S., Ohigashi M., Takenaka C., Tamura K., Nada S., Nishi T., Yamamoto A., Yamaguchi A.
Mol. Cell. Biol. 25:4138-4149(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, GLYCOSYLATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
Tissue: Brain.
[3]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1589.
Strain: C57BL/6J.
Tissue: Cerebellum, Dendritic cell, Embryo and Spinal cord.
[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] OF 1-1480.
Strain: FVB/N.
Tissue: Mammary tumor.
[5]"Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H.
DNA Res. 10:167-180(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1034-1642.
Tissue: Brain.
[6]"Acute digoxin loading reduces ABCA8A mRNA expression in the mouse liver."
Wakaumi M., Ishibashi K., Ando H., Kasanuki H., Tsuruoka S.
Clin. Exp. Pharmacol. Physiol. 32:1034-1041(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF491842 mRNA. Translation: AAM90895.1.
AB097675 mRNA. Translation: BAC66658.1.
AK034961 mRNA. Translation: BAC28896.2. Different initiation.
AK047188 mRNA. Translation: BAC32984.1.
AK138604 mRNA. Translation: BAE23713.1.
AK169879 mRNA. Translation: BAE41431.1.
BC064823 mRNA. Translation: AAH64823.1. Sequence problems.
AK129463 mRNA. Translation: BAC98273.1.
CCDSCCDS25591.1.
RefSeqNP_671752.2. NM_147219.2.
XP_006533128.1. XM_006533065.1.
UniGeneMm.41942.

3D structure databases

ProteinModelPortalQ8K448.
SMRQ8K448. Positions 395-729, 1265-1561.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000047927.

PTM databases

PhosphoSiteQ8K448.

Proteomic databases

PaxDbQ8K448.
PRIDEQ8K448.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000043961; ENSMUSP00000047927; ENSMUSG00000018800.
GeneID217265.
KEGGmmu:217265.
UCSCuc007mdm.1. mouse.

Organism-specific databases

CTD23461.
MGIMGI:2386607. Abca5.
RougeSearch...

Phylogenomic databases

eggNOGCOG1131.
GeneTreeENSGT00740000115040.
HOVERGENHBG079884.
InParanoidQ8K448.
KOK05648.
OMADGFASIY.
OrthoDBEOG73Z2SB.
PhylomeDBQ8K448.
TreeFamTF105192.

Gene expression databases

ArrayExpressQ8K448.
BgeeQ8K448.
GenevestigatorQ8K448.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio375715.
PROQ8K448.
SOURCESearch...

Entry information

Entry nameABCA5_MOUSE
AccessionPrimary (citable) accession number: Q8K448
Secondary accession number(s): Q3TE17 expand/collapse secondary AC list , Q3UUB4, Q6P1Y0, Q6ZPG4, Q810C7, Q8BM46, Q8BXG7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot