Reviewed, UniProtKB/Swiss-Prot Q9NP78 (ABCB9_HUMAN)

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family B member 9
Alternative name(s):
    ATP-binding cassette transporter 9
      Short name=ABC transporter 9 protein
      Short name=hABCB9
    TAP-like protein
      Short name=TAPL

Gene names

Name:	ABCB9
Synonyms:	KIAA1520

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	766 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May function as a peptide transporter.
Subunit structure	Homodimer or heterodimer Potential.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Probable. Lysosome membrane; Multi-pass membrane protein.
Tissue specificity	Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. [View classification] Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain.

Ontologies

Keywords
Biological process	Peptide transport Protein transport Transport
Cellular component	Endoplasmic reticulum Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane
Ligand	ATP-binding Nucleotide-binding
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	peptide transport Inferred from electronic annotation. Source: UniProtKB-KW protein transport Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Ref.2 Traceable author statement. Source: ProtInc transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	ATP-binding cassette (ABC) transporter complex Ref.2 Non-traceable author statement. Source: UniProtKB endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Ref.2 Non-traceable author statement. Source: UniProtKB lysosome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Ref.2 Non-traceable author statement. Source: UniProtKB ATPase activity, coupled to transmembrane movement of substances 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: Q9NP78-1)

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: Q9NP78-2)

The sequence of this isoform differs from the canonical sequence as follows:
     418-460: Missing.

Isoform 3 (identifier: Q9NP78-3)

The sequence of this isoform differs from the canonical sequence as follows:
     582-596: ISLVSQEPVLFARSI → VCARAWATLLRPFCI
     597-766: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 766	743	ATP-binding cassette sub-family B member 9		PRO_0000000252
Regions
	Transmembrane	47 – 67	21	Potential
	Transmembrane	84 – 104	21	Potential
	Transmembrane	116 – 136	21	Potential
	Transmembrane	185 – 205	21	Potential
	Transmembrane	225 – 245	21	Potential
	Transmembrane	319 – 339	21	Potential
	Transmembrane	416 – 436	21	Potential
	Domain	188 – 471	284	ABC transmembrane type-1
	Domain	504 – 740	237	ABC transporter
	Nucleotide binding	539 – 546	8	ATP Potential
	Compositional bias	384 – 389	6	Poly-Glu
Amino acid modifications
	Modified residue	530	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	418 – 460	43	Missing in isoform 2.		VSP_000027
	Alternative sequence	582 – 596	15	ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3.		VSP_000029
	Alternative sequence	597 – 766	170	Missing in isoform 3.		VSP_000030
	Natural variant	121	1	V → M: dbSNP rs3803002. Ref.7		VAR_013701

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: C83FA62C929EC792	FASTA	766	84,475
	10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGLTL 430 440 450 460 470 480 LVVQVSILYY GGHLVISGQM TSGNLIAFII YEFVLGDCME SVGSVYSGLM QGVGAAEKVF 490 500 510 520 530 540 EFIDRQPTMV HDGSLAPDHL EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP 550 560 570 580 590 600 SGSGKSSCVN ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VISLVSQEPV LFARSITDNI 610 620 630 640 650 660 SYGLPTVPFE MVVEAAQKAN AHGFIMELQD GYSTETGEKG AQLSGGQKQR VAMARALVRN 670 680 690 700 710 720 PPVLILDEAT SALDAESEYL IQQAIHGNLQ KHTVLIIAHR LSTVEHAHLI VVLDKGRVVQ 730 740 750 760 QGTHQQLLAQ GGLYAKLVQR QMLGLQPAAD FTAGHNEPVA NGSHKA
	Isoform 2. Checksum: 8FEB1D7C16C59FBC	FASTA	723	79,771
	10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGSVG 430 440 450 460 470 480 SVYSGLMQGV GAAEKVFEFI DRQPTMVHDG SLAPDHLEGR VDFENVTFTY RTRPHTQVLQ 490 500 510 520 530 540 NVSFSLSPGK VTALVGPSGS GKSSCVNILE NFYPLEGGRV LLDGKPISAY DHKYLHRVIS 550 560 570 580 590 600 LVSQEPVLFA RSITDNISYG LPTVPFEMVV EAAQKANAHG FIMELQDGYS TETGEKGAQL 610 620 630 640 650 660 SGGQKQRVAM ARALVRNPPV LILDEATSAL DAESEYLIQQ AIHGNLQKHT VLIIAHRLST 670 680 690 700 710 720 VEHAHLIVVL DKGRVVQQGT HQQLLAQGGL YAKLVQRQML GLQPAADFTA GHNEPVANGS HKA
	Isoform 3. Checksum: 9A6E46B08EE34D37	FASTA	596	66,238
	10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGLTL 430 440 450 460 470 480 LVVQVSILYY GGHLVISGQM TSGNLIAFII YEFVLGDCME SVGSVYSGLM QGVGAAEKVF 490 500 510 520 530 540 EFIDRQPTMV HDGSLAPDHL EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP 550 560 570 580 590 SGSGKSSCVN ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VVCARAWATL LRPFCI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A half-type ABC transporter TAPL is highly conserved between rodent and man, and the human gene is not responsive to interferon-gamma in contrast to TAP1 and TAP2." Kobayashi A., Kasano M., Maeda T., Hori S., Motojima K., Suzuki M., Fujiwara T., Takahashi E., Yabe T., Tanaka K., Kasahara M., Yamaguchi Y., Maeda M. J. Biochem. 128:711-718(2000) [PubMed: 11011155] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Embryonic kidney.
[2]	"Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes." Zhang F., Zhang W., Liu L., Fisher C.L., Hui D., Childs S., Dorovini-Zis K., Ling V. J. Biol. Chem. 275:23287-23294(2000) [PubMed: 10748049] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), CHARACTERIZATION. Tissue: Lymphoblast.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[4]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[5]	Ohara O., Nagase T., Kikuno R. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[6]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-530, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population." Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y. J. Hum. Genet. 47:38-50(2002) [PubMed: 11829140] [Abstract] Cited for: VARIANT MET-121.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB045381 mRNA. Translation: BAA97989.2. AF216494 mRNA. Translation: AAF89993.1. BC017348 mRNA. Translation: AAH17348.1. AB040953 mRNA. Translation: BAA96044.2. Different initiation.
IPI	IPI00216589. IPI00418359. IPI00472317.
RefSeq	NP_062570.1. NP_062571.1. NP_982269.1.
UniGene	Hs.511951
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NP78.
PTM databases
PhosphoSite	Q9NP78.
Proteomic databases
PRIDE	Q9NP78.
Genome annotation databases
Ensembl	ENST00000280560; ENSP00000280560; ENSG00000150967; Homo sapiens. [Genome view] ENST00000392439; ENSP00000376234; ENSG00000150967; Homo sapiens. [Genome view]
GeneID	23457.
KEGG	hsa:23457.
UCSC	uc001udm.2. human. uc001udo.2. human. uc001udr.2. human.
Organism-specific databases
CTD	23457.
GeneCards	GC12M121938.
H-InvDB	HIX0011101.
HGNC	HGNC:50. ABCB9.
MIM	605453. gene.
PharmGKB	PA24391.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NP78.
OMA	KEAMAYT
OrthoDB	EOG9VQD7R
Enzyme and pathway databases
BioCyc	CATTLE:ENSBTAG00000008464-MON.
BRENDA	3.6.3.43. 247.
Gene expression databases
ArrayExpress	Q9NP78.
Bgee	Q9NP78.
CleanEx	HS_ABCB9.
Genevestigator	Q9NP78.
GermOnline	ENSG00000150967. Homo sapiens.
Family and domain databases
InterPro	IPR011527. ABC_TM_1. IPR001140. ABC_TM_transpt. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR003593. ATPase_AAA+_core. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	45751.
SOURCE	Search...

Entry information

Entry name

ABCB9_HUMAN

Accession

Primary (citable) accession number: Q9NP78
Secondary accession number(s): Q96AB1, Q9P208

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	October 1, 2000
Last modified:	November 24, 2009
This is version 89 of the entry and version 1 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.