Q9Y2B5 (VP9D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
VPS9 domain-containing protein 1

Alternative name(s):
Protein ATP-BL

Gene names

Name:	VPS9D1
Synonyms:	ATPBL, C16orf7

Organism

Homo sapiens (Human) [Reference proteome]

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	631 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Ubiquitous. Ref.1
Sequence similarities	Contains 1 VPS9 domain.
Sequence caution	The sequence BAA76711.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Molecular function	GTPase activation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP synthesis coupled proton transport Traceable author statement Ref.1. Source: ProtInc positive regulation of GTPase activity Inferred from electronic annotation. Source: GOC
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular_function	GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW transporter activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2B5-1)

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: Q9Y2B5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MAAAAGDGTVKPLQSAMKLANGAIELDTGNRPR → MLLCPAQKTV...DPTLSLSWTQ

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 631	631	VPS9 domain-containing protein 1		PRO_0000079279
Regions
	Domain	467 – 630	164	VPS9
	Coiled coil	187 – 221	35	Potential
Natural variations
	Alternative sequence	1 – 33	33	MAAAA…GNRPR → MLLCPAQKTVFRLQLTTAAQ CLWVYLRDKQVVVFLAYPTR APGRNNGVTSLHWPDPTLSL SWTQ in isoform 2.		VSP_040306
Experimental info
	Sequence conflict	225 – 226	2	QV → KF in BAA76711. Ref.1
	Sequence conflict	392	1	R → P in BAA76711. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 2. Checksum: 0C302E7BA496B27A	FASTA	631	68,956
	10 20 30 40 50 60 MAAAAGDGTV KPLQSAMKLA NGAIELDTGN RPREAYTEYL RSIHYISQVL LEEVETTKEA 70 80 90 100 110 120 GETVPPDTSK MLKLAQQCLE RAQSTAAKLG KTRLKPTMPA AAPIPQPAGR HRRVYSDEGG 130 140 150 160 170 180 KLSPFLPPEI FQKLQGAESQ SCKKELTPLE EASLQNQKLK AAYEARMARL DPSQAMQKTS 190 200 210 220 230 240 LTLSLQRQMM ENLVIAKARE ETLQRKMEER RLRLQEAANR RFCSQVALTP EEREQRALYA 250 260 270 280 290 300 AILEYEQDHD WPKHWKAKLK RNPGDLSLVT SLVSHLLSLP DHPIAQLLRR LQCSVYSALY 310 320 330 340 350 360 PAVSRAAAPA PGCCPPTPNP GSRRLRPSQS LHCMLSPPEP SAAPRPQDSP PTPPLQPGPV 370 380 390 400 410 420 GSPSPLGDTA SGLPDKDSSF EDLEQFLGTS ERQGRGRGVQ PEPQLQQLKT AVEEIHNAVD 430 440 450 460 470 480 RLLSLTLLAF EGLNTAASKD RCLACIEEPF FSPLWPLLLA LYRSVHRARE AALSRSMELY 490 500 510 520 530 540 RNAPPTAIGI PTKLLPQNPE AKGATGYPYC AAAQELGLLV LESCPQKKLE CIVRTLRIIC 550 560 570 580 590 600 VCAEDYCPTP EATPQAGPPP IAAAAIGADD LLPILSFVVL RSGLPQLVSE CAALEEFIHE 610 620 630 GYLIGEEGYC LTSLQSALSY VELLPRGGLA K
	Isoform 2 [UniParc]. Checksum: DB9CF0ABE288A070	FASTA	662	72,933
	10 20 30 40 50 60 MLLCPAQKTV FRLQLTTAAQ CLWVYLRDKQ VVVFLAYPTR APGRNNGVTS LHWPDPTLSL 70 80 90 100 110 120 SWTQEAYTEY LRSIHYISQV LLEEVETTKE AGETVPPDTS KMLKLAQQCL ERAQSTAAKL 130 140 150 160 170 180 GKTRLKPTMP AAAPIPQPAG RHRRVYSDEG GKLSPFLPPE IFQKLQGAES QSCKKELTPL 190 200 210 220 230 240 EEASLQNQKL KAAYEARMAR LDPSQAMQKT SLTLSLQRQM MENLVIAKAR EETLQRKMEE 250 260 270 280 290 300 RRLRLQEAAN RRFCSQVALT PEEREQRALY AAILEYEQDH DWPKHWKAKL KRNPGDLSLV 310 320 330 340 350 360 TSLVSHLLSL PDHPIAQLLR RLQCSVYSAL YPAVSRAAAP APGCCPPTPN PGSRRLRPSQ 370 380 390 400 410 420 SLHCMLSPPE PSAAPRPQDS PPTPPLQPGP VGSPSPLGDT ASGLPDKDSS FEDLEQFLGT 430 440 450 460 470 480 SERQGRGRGV QPEPQLQQLK TAVEEIHNAV DRLLSLTLLA FEGLNTAASK DRCLACIEEP 490 500 510 520 530 540 FFSPLWPLLL ALYRSVHRAR EAALSRSMEL YRNAPPTAIG IPTKLLPQNP EAKGATGYPY 550 560 570 580 590 600 CAAAQELGLL VLESCPQKKL ECIVRTLRII CVCAEDYCPT PEATPQAGPP PIAAAAIGAD 610 620 630 640 650 660 DLLPILSFVV LRSGLPQLVS ECAALEEFIH EGYLIGEEGY CLTSLQSALS YVELLPRGGL AK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and mapping of putative b subunit of human ATPase (ATP-BL) from human leukocytes." Sugimoto J., Hatakeyama T., Isobe M. DNA Res. 6:29-35(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Leukocyte.
[2]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB018551 mRNA. Translation: BAA76711.1. Frameshift. AC010538 Genomic DNA. No translation available.
IPI	IPI00784021. IPI00973529.
RefSeq	NP_004904.2. NM_004913.2.
UniGene	Hs.164410.
3D structure databases
ProteinModelPortal	Q9Y2B5.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-7034555.
PTM databases
PhosphoSite	Q9Y2B5.
Polymorphism databases
DMDM	71153207.
Proteomic databases
PaxDb	Q9Y2B5.
PRIDE	Q9Y2B5.
Protocols and materials databases
DNASU	9605.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000389386; ENSP00000374037; ENSG00000075399.
GeneID	9605.
KEGG	hsa:9605.
UCSC	uc002fol.1. human.
Organism-specific databases
CTD	9605.
GeneCards	GC16M089773.
H-InvDB	HIX0202318.
HGNC	HGNC:13526. VPS9D1.
HPA	HPA007847. HPA023620.
neXtProt	NX_Q9Y2B5.
PharmGKB	PA25562.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG70432.
OMA	IHNAIDR.
Gene expression databases
ArrayExpress	Q9Y2B5.
Bgee	Q9Y2B5.
CleanEx	HS_C16orf7.
Genevestigator	Q9Y2B5.
GermOnline	ENSG00000075399. Homo sapiens.
Family and domain databases
InterPro	IPR003123. VPS9. [Graphical view]
Pfam	PF02204. VPS9. 1 hit. [Graphical view]
PROSITE	PS51205. VPS9. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	C16orf7. human.
GenomeRNAi	9605.
NextBio	36039.

Entry information

Entry name

VP9D1_HUMAN

Accession

Primary (citable) accession number: Q9Y2B5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	January 11, 2011
Last modified:	April 3, 2013
This is version 66 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.