Q96NW4 (ANR27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein 27

Alternative name(s):
VPS9 domain-containing protein

Gene names

Name:	ANKRD27
ORF Names:	PP12899

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	1050 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be a Rab21 guanine exchange factor and regulate endosome dynamics By similarity.
Subunit structure	Interacts with RAB21 and RAB5A, with a strong preference for RAB21 By similarity.
Subcellular location	Cytoplasm. Note: Mainly localized to early endosomes in the perinuclear region By similarity.
Sequence similarities	Contains 11 ANK repeats. Contains 1 VPS9 domain.
Sequence caution	The sequence BAB70755.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Domain	ANK repeat Repeat
Molecular function	GTPase activation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	early endosome to late endosome transport Inferred from direct assay. Source: MGI
Cellular component	early endosome Inferred from direct assay. Source: MGI lysosome Inferred from direct assay. Source: LIFEdb
Molecular function	GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW guanyl-nucleotide exchange factor activity Inferred from direct assay. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1050	1050	Ankyrin repeat domain-containing protein 27		PRO_0000274556
Regions
	Domain	233 – 371	139	VPS9
	Repeat	396 – 426	31	ANK 1
	Repeat	462 – 491	30	ANK 2
	Repeat	495 – 524	30	ANK 3
	Repeat	528 – 560	33	ANK 4
	Repeat	564 – 593	30	ANK 5
	Repeat	597 – 627	31	ANK 6
	Repeat	668 – 698	31	ANK 7
	Repeat	743 – 772	30	ANK 8
	Repeat	776 – 805	30	ANK 9
	Repeat	809 – 838	30	ANK 10
	Repeat	842 – 871	30	ANK 11
Amino acid modifications
	Modified residue	1023	1	Phosphothreonine Ref.6
Natural variations
	Natural variant	657	1	S → G. Ref.1 Corresponds to variant rs2287669 [ dbSNP | Ensembl ].		VAR_030317
	Natural variant	761	1	P → R. Ref.1 Corresponds to variant rs2302970 [ dbSNP | Ensembl ].		VAR_030318
Experimental info
	Sequence conflict	160 – 175	16	HRTFR…LRHHI → LIEHSENARERASVTT in AAQ04657. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96NW4 [UniParc]. Last modified February 6, 2007. Version 2. Checksum: C47A96AA15E420F9	FASTA	1,050	116,984
	10 20 30 40 50 60 MALYDEDLLK NPFYLALQKC RPDLCSKVAQ IHGIVLVPCK GSLSSSIQST CQFESYILIP 70 80 90 100 110 120 VEEHFQTLNG KDVFIQGNRI KLGAGFACLL SVPILFEETF YNEKEESFSI LCIAHPLEKR 130 140 150 160 170 180 ESSEEPLAPS DPFSLKTIED VREFLGRHSE RFDRNIASFH RTFRECERKS LRHHIDSANA 190 200 210 220 230 240 LYTKCLQQLL RDSHLKMLAK QEAQMNLMKQ AVEIYVHHEI YNLIFKYVGT MEASEDAAFN 250 260 270 280 290 300 KITRSLQDLQ QKDIGVKPEF SFNIPRAKRE LAQLNKCTSP QQKLVCLRKV VQLITQSPSQ 310 320 330 340 350 360 RVNLETMCAD DLLSVLLYLL VKTEIPNWMA NLSYIKNFRF SSLAKDELGY CLTSFEAAIE 370 380 390 400 410 420 YIRQGSLSAK PPESEGFGDR LFLKQRMSLL SQMTSSPTDC LFKHIASGNQ KEVERLLSQE 430 440 450 460 470 480 DHDKDTVQKM CHPLCFCDDC EKLVSGRLND PSVVTPFSRD DRGHTPLHVA AVCGQASLID 490 500 510 520 530 540 LLVSKGAMVN ATDYHGATPL HLACQKGYQS VTLLLLHYKA SAEVQDNNGN TPLHLACTYG 550 560 570 580 590 600 HEDCVKALVY YDVESCRLDI GNEKGDTPLH IAARWGYQGV IETLLQNGAS TEIQNRLKET 610 620 630 640 650 660 PLKCALNSKI LSVMEAYHLS FERRQKSSEA PVQSPQRSVD SISQESSTSS FSSMSASSRQ 670 680 690 700 710 720 EETKKDYREV EKLLRAVADG DLEMVRYLLE WTEEDLEDAE DTVSAADPEF CHPLCQCPKC 730 740 750 760 770 780 APAQKRLAKV PASGLGVNVT SQDGSSPLHV AALHGRADLI PLLLKHGANA GARNADQAVP 790 800 810 820 830 840 LHLACQQGHF QVVKCLLDSN AKPNKKDLSG NTPLIYACSG GHHELVALLL QHGASINASN 850 860 870 880 890 900 NKGNTALHEA VIEKHVFVVE LLLLHGASVQ VLNKRQRTAV DCAEQNSKIM ELLQVVPSCV 910 920 930 940 950 960 ASLDDVAETD RKEYVTVKIR KKWNSKLYDL PDEPFTRQFY FVHSAGQFKG KTSREIMARD 970 980 990 1000 1010 1020 RSVPNLTEGS LHEPGRQSVT LRQNNLPAQS GSHAAEKGNS DWPERPGLTQ TGPGHRRMLR 1030 1040 1050 RHTVEDAVVS QGPEAAGPLS TPQEVSASRS

References

[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-657 AND ARG-761. Tissue: Testis.
[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. , 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]. Tissue: Spleen.
[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]. Tissue: Testis.
[4]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-175.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 644-1050. Tissue: Testis.
[6]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1023, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136784 mRNA. Translation: CAB66718.1. AK054561 mRNA. Translation: BAB70755.1. Different initiation. BC050529 mRNA. Translation: AAH50529.1. AF447882 mRNA. Translation: AAQ04657.1. AL834335 mRNA. Translation: CAD39003.1.
IPI	IPI00102377.
RefSeq	NP_115515.2. NM_032139.2.
UniGene	Hs.59236.
3D structure databases
HSSP	HSSP built from PDB template 1AWC based on UniProtKB Q00420.
ProteinModelPortal	Q96NW4.
SMR	Q96NW4. Positions 152-366, 396-897.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1198049.
STRING	Q96NW4.
PTM databases
PhosphoSite	Q96NW4.
Polymorphism databases
DMDM	125987706.
Proteomic databases
PRIDE	Q96NW4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306065; ENSP00000304292; ENSG00000105186.
GeneID	84079.
KEGG	hsa:84079.
UCSC	uc002ntn.1. human.
Organism-specific databases
CTD	84079.
GeneCards	GC19M033087.
H-InvDB	HIX0014992.
HGNC	HGNC:25310. ANKRD27.
HPA	HPA042769.
neXtProt	NX_Q96NW4.
PharmGKB	PA134893411.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19199.
GeneTree	ENSGT00580000081629.
HOGENOM	HBG713582.
HOVERGEN	HBG080845.
InParanoid	Q96NW4.
OMA	CLFKHIA.
OrthoDB	EOG48PMJG.
PhylomeDB	Q96NW4.
Gene expression databases
ArrayExpress	Q96NW4.
Bgee	Q96NW4.
CleanEx	HS_ANKRD27.
Genevestigator	Q96NW4.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR003123. VPS9. IPR013995. VPS9_subgr. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 6 hits.
Pfam	PF00023. Ank. 3 hits. PF12796. Ank_2. 2 hits. PF02204. VPS9. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 8 hits. SM00167. VPS9. 1 hit. [Graphical view]
SUPFAM	SSF48403. ANK. 2 hits.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 8 hits. PS51205. VPS9. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	73299.

Entry information

Entry name

ANR27_HUMAN

Accession

Primary (citable) accession number: Q96NW4
Secondary accession number(s): Q71MF5 , Q86UC3, Q8ND80, Q9H0I4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	February 6, 2007
Last modified:	January 25, 2012
This is version 70 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.