Reviewed, UniProtKB/Swiss-Prot Q8WWZ7 (ABCA5_HUMAN)

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family A member 5

Gene names

Name:	ABCA5
Synonyms:	KIAA1888

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1642 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May play a role in the processing of autolysosomes By similarity.
Subcellular location	Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Ref.1 Ref.2
Developmental stage	Expressed in fetal liver, kidney and brain. Ref.1
Post-translational modification	N-glycosylated By similarity.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.

Ontologies

Keywords
Biological process	Transport
Cellular component	Endosome Golgi apparatus Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW endosome Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8WWZ7-1)

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: Q8WWZ7-2)

Also known as: V20+16;

The sequence of this isoform differs from the canonical sequence as follows:
     922-925: DSDI → GESV
     926-1642: Missing.

Isoform 3 (identifier: Q8WWZ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-777: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1642	1642	ATP-binding cassette sub-family A member 5		PRO_0000250669
Regions
	Transmembrane	32 – 52	21	Potential
	Transmembrane	220 – 240	21	Potential
	Transmembrane	264 – 284	21	Potential
	Transmembrane	297 – 317	21	Potential
	Transmembrane	328 – 348	21	Potential
	Transmembrane	355 – 375	21	Potential
	Transmembrane	396 – 416	21	Potential
	Transmembrane	866 – 886	21	Potential
	Transmembrane	967 – 987	21	Potential
	Transmembrane	1021 – 1041	21	Potential
	Transmembrane	1071 – 1091	21	Potential
	Transmembrane	1102 – 1122	21	Potential
	Transmembrane	1139 – 1159	21	Potential
	Transmembrane	1169 – 1189	21	Potential
	Transmembrane	1207 – 1227	21	Potential
	Domain	478 – 713	236	ABC transporter 1
	Domain	1290 – 1533	244	ABC transporter 2
	Nucleotide binding	514 – 521	8	ATP 1 Potential
	Nucleotide binding	1333 – 1340	8	ATP 2 Potential
Amino acid modifications
	Glycosylation	86	1	N-linked (GlcNAc...) Potential
	Glycosylation	458	1	N-linked (GlcNAc...) Potential
	Glycosylation	996	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 777	777	Missing in isoform 3.		VSP_020690
	Alternative sequence	922 – 925	4	DSDI → GESV in isoform 2.		VSP_020691
	Alternative sequence	926 – 1642	717	Missing in isoform 2.		VSP_020692
	Natural variant	93	1	Q → K: dbSNP rs12383.		VAR_027571
	Natural variant	178	1	A → T: dbSNP rs11544715. Ref.2		VAR_048128
	Natural variant	484	1	Q → R: dbSNP rs17686569. Ref.2		VAR_027572
	Natural variant	753	1	M → V: dbSNP rs9898003.		VAR_027573
	Natural variant	832	1	A → S: dbSNP rs536009. Ref.1 Ref.2 Ref.3		VAR_027574
	Natural variant	960	1	M → V: dbSNP rs557491. Ref.4		VAR_027575
	Natural variant	1260	1	D → G: dbSNP rs11544716.		VAR_048129
Experimental info
	Sequence conflict	1215	1	Y → H in BAB71208. Ref.3
	Sequence conflict	1357	1	V → I in CAB93535. Ref.2
	Sequence conflict	1366	1	T → S in CAB93535. Ref.2
	Sequence conflict	1371	1	D → G in BAB71208. Ref.3
	Sequence conflict	1419	1	A → G in BAB71208. Ref.3
	Sequence conflict	1523	1	K → R in BAB71208. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 3, 2006. Version 2. Checksum: 608809E8539804BF	FASTA	1,642	186,508
	10 20 30 40 50 60 MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS MMHPNKKYEE 70 80 90 100 110 120 VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL PDVIITEEYT NEKEMLTSSL 130 140 150 160 170 180 SKPSNFVGVV FKDSMSYELR FFPDMIPVSS IYMDSRAGCS KSCEAAQYWS SGFTVLQASI 190 200 210 220 230 240 DAAIIQLKTN VSLWKELEST KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI 250 260 270 280 290 300 VAEKEKKIKE FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF 310 320 330 340 350 360 LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES FPKSLVWLFS 370 380 390 400 410 420 PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI IMLTLNSIFY VLLAVYLDQV 430 440 450 460 470 480 IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI 490 500 510 520 530 540 SGIQKTYRKK GENVEALRNL SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI 550 560 570 580 590 600 YGHRVSEIDE MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 610 620 630 640 650 660 DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR HIVWNLLKYR 670 680 690 700 710 720 KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL KSKWGIGYRL SMYIDKYCAT 730 740 750 760 770 780 ESLSSLVKQH IPGATLLQQN DQQLVYSLPF KDMDKFSGLF SALDSHSNLG VISYGVSMTT 790 800 810 820 830 840 LEDVFLKLEV EAEIDQADYS VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW 850 860 870 880 890 900 KQQMYTIAKF HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY 910 920 930 940 950 960 FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV APHSAALNVM 970 980 990 1000 1010 1020 HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET IQIWSTPFFQ EITDIVFKIE 1030 1040 1050 1060 1070 1080 LYFQAALLGI IVTAMPPYFA MENAENHKIK AYTQLKLSGL LPSAYWIGQA VVDIPLFFII 1090 1100 1110 1120 1130 1140 LILMLGSLLA FHYGLYFYTV KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI 1150 1160 1170 1180 1190 1200 YSVAALACIA ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT 1210 1220 1230 1240 1250 1260 YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS KNRKLPEPPD 1270 1280 1290 1300 1310 1320 NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD DKKDFLLSRK VKKVATKYIS 1330 1340 1350 1360 1370 1380 FCVKKGEILG LLGPNGAGKS TIINILVGDI EPTSGQVFLG DYSSETSEDD DSLKCMGYCP 1390 1400 1410 1420 1430 1440 QINPLWPDTT LQEHFEIYGA VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK 1450 1460 1470 1480 1490 1500 LCFALSMLGN PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC 1510 1520 1530 1540 1550 1560 DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI QYIFPNASRQ 1570 1580 1590 1600 1610 1620 ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF SQATLEQVFV ELTKEQEEED 1630 1640 NSCGTLNSTL WWERTQEDRV VF
	Isoform 2 (V20+16). Checksum: EF5D6A281832CE47	FASTA	925	104,364
	10 20 30 40 50 60 MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS MMHPNKKYEE 70 80 90 100 110 120 VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL PDVIITEEYT NEKEMLTSSL 130 140 150 160 170 180 SKPSNFVGVV FKDSMSYELR FFPDMIPVSS IYMDSRAGCS KSCEAAQYWS SGFTVLQASI 190 200 210 220 230 240 DAAIIQLKTN VSLWKELEST KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI 250 260 270 280 290 300 VAEKEKKIKE FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF 310 320 330 340 350 360 LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES FPKSLVWLFS 370 380 390 400 410 420 PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI IMLTLNSIFY VLLAVYLDQV 430 440 450 460 470 480 IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI 490 500 510 520 530 540 SGIQKTYRKK GENVEALRNL SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI 550 560 570 580 590 600 YGHRVSEIDE MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 610 620 630 640 650 660 DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR HIVWNLLKYR 670 680 690 700 710 720 KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL KSKWGIGYRL SMYIDKYCAT 730 740 750 760 770 780 ESLSSLVKQH IPGATLLQQN DQQLVYSLPF KDMDKFSGLF SALDSHSNLG VISYGVSMTT 790 800 810 820 830 840 LEDVFLKLEV EAEIDQADYS VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW 850 860 870 880 890 900 KQQMYTIAKF HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY 910 920 FLKPGDKPHK YKTSLLLQNS AGESV
	Isoform 3. Checksum: F0A7BF87007E321F	FASTA	865	99,273
	10 20 30 40 50 60 MTTLEDVFLK LEVEAEIDQA DYSVFTQQPL EEEMDSKSFD EMEQSLLILS ETKAALVSTM 70 80 90 100 110 120 SLWKQQMYTI AKFHFFTLKR ESKSVRSVLL LLLIFFTVQI FMFLVHHSFK NAVVPIKLVP 130 140 150 160 170 180 DLYFLKPGDK PHKYKTSLLL QNSADSDISD LISFFTSQNI MVTMINDSDY VSVAPHSAAL 190 200 210 220 230 240 NVMHSEKDYV FAAVFNSTMV YSLPILVNII SNYYLYHLNV TETIQIWSTP FFQEITDIVF 250 260 270 280 290 300 KIELYFQAAL LGIIVTAMPP YFAMENAENH KIKAYTQLKL SGLLPSAYWI GQAVVDIPLF 310 320 330 340 350 360 FIILILMLGS LLAFHYGLYF YTVKFLAVVF CLIGYVPSVI LFTYIASFTF KKILNTKEFW 370 380 390 400 410 420 SFIYSVAALA CIAITEITFF MGYTIATILH YAFCIIIPIY PLLGCLISFI KISWKNVRKN 430 440 450 460 470 480 VDTYNPWDRL SVAVISPYLQ CVLWIFLLQY YEKKYGGRSI RKDPFFRNLS TKSKNRKLPE 490 500 510 520 530 540 PPDNEDEDED VKAERLKVKE LMGCQCCEEK PSIMVSNLHK EYDDKKDFLL SRKVKKVATK 550 560 570 580 590 600 YISFCVKKGE ILGLLGPNGA GKSTIINILV GDIEPTSGQV FLGDYSSETS EDDDSLKCMG 610 620 630 640 650 660 YCPQINPLWP DTTLQEHFEI YGAVKGMSAS DMKEVISRIT HALDLKEHLQ KTVKKLPAGI 670 680 690 700 710 720 KRKLCFALSM LGNPQITLLD EPSTGMDPKA KQHMWRAIRT AFKNRKRAAI LTTHYMEEAE 730 740 750 760 770 780 AVCDRVAIMV SGQLRCIGTV QHLKSKFGKG YFLEIKLKDW IENLEVDRLQ REIQYIFPNA 790 800 810 820 830 840 SRQESFSSIL AYKIPKEDVQ SLSQSFFKLE EAKHAFAIEE YSFSQATLEQ VFVELTKEQE 850 860 EEDNSCGTLN STLWWERTQE DRVVF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily." Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M. GeneScreen 1:157-164(2001) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-832, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Testis.
[2]	"Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant." Petry F., Kotthaus A., Hirsch-Ernst K.I. Biochem. Biophys. Res. Commun. 300:343-350(2003) [PubMed: 12504089] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS THR-178; ARG-484 AND SER-832. Tissue: Hepatoma and Testis.
[3]	"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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1642 (ISOFORM 1), VARIANT SER-832. Tissue: Teratocarcinoma and Testis.
[4]	"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed: 11572484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 906-1642 (ISOFORM 1), VARIANT VAL-960. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY028897 mRNA. Translation: AAK30022.1. AJ275973 mRNA. Translation: CAB93535.3. AJ512612 mRNA. Translation: CAD54757.1. AK056533 mRNA. Translation: BAB71208.1. AK058170 mRNA. Translation: BAB71700.1. Different initiation. AB067475 mRNA. Translation: BAB67781.1.
IPI	IPI00292012. IPI00786993. IPI00788065.
RefSeq	NP_061142.2. NP_758424.1.
UniGene	Hs.421474
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8WWZ7.
PTM databases
PhosphoSite	Q8WWZ7.
Proteomic databases
PRIDE	Q8WWZ7.
Genome annotation databases
Ensembl	ENST00000320086; ENSP00000319766; ENSG00000154265; Homo sapiens. [Genome view] ENST00000392676; ENSP00000376443; ENSG00000154265; Homo sapiens. [Genome view]
GeneID	23461.
KEGG	hsa:23461.
UCSC	uc002jic.1. human. uc002jif.1. human. uc002jih.1. human.
Organism-specific databases
CTD	23461.
GeneCards	GC17M064754.
HGNC	HGNC:35. ABCA5.
HPA	HPA022032.
MIM	612503. gene.
PharmGKB	PA24380.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8WWZ7.
Gene expression databases
ArrayExpress	Q8WWZ7.
Bgee	Q8WWZ7.
CleanEx	HS_ABCA5.
Genevestigator	Q8WWZ7.
GermOnline	ENSG00000154265. Homo sapiens.
Family and domain databases
InterPro	IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR003593. ATPase_AAA+_core. [Graphical view]
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	45765.
SOURCE	Search...

Entry information

Entry name

ABCA5_HUMAN

Accession

Primary (citable) accession number: Q8WWZ7
Secondary accession number(s): Q8IVJ2 , Q96LJ1, Q96MS4, Q96PZ9, Q9NY14

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	October 3, 2006
Last modified:	November 24, 2009
This is version 54 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.