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Q96NW4 (ANR27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Ankyrin repeat domain-containing protein 27
Alternative name(s):
VPS9 domain-containing protein
Gene names
Name:ANKRD27
ORF Names:PP12899
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1050 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentCytoplasm
   Coding sequence diversityPolymorphism
   DomainANK repeat
Repeat
   Molecular functionGTPase activation
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processearly endosome to late endosome transport

Inferred from direct assay. Source: MGI

   Cellular componentearly endosome

Inferred from direct assay. Source: MGI

lysosome

Inferred from direct assay. Source: LIFEdb

   Molecular functionGTPase 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10501050Ankyrin repeat domain-containing protein 27
PRO_0000274556

Regions

Domain233 – 371139VPS9
Repeat396 – 42631ANK 1
Repeat462 – 49130ANK 2
Repeat495 – 52430ANK 3
Repeat528 – 56033ANK 4
Repeat564 – 59330ANK 5
Repeat597 – 62731ANK 6
Repeat668 – 69831ANK 7
Repeat743 – 77230ANK 8
Repeat776 – 80530ANK 9
Repeat809 – 83830ANK 10
Repeat842 – 87130ANK 11

Amino acid modifications

Modified residue10231Phosphothreonine Ref.6

Natural variations

Natural variant6571S → G. Ref.1
Corresponds to variant rs2287669 [ dbSNP | Ensembl ].
VAR_030317
Natural variant7611P → R. Ref.1
Corresponds to variant rs2302970 [ dbSNP | Ensembl ].
VAR_030318

Experimental info

Sequence conflict160 – 17516HRTFR…LRHHI → LIEHSENARERASVTT in AAQ04657. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q96NW4 [UniParc].

Last modified February 6, 2007. Version 2.
Checksum: C47A96AA15E420F9

FASTA1,050116,984
        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 

« Hide

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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
IPIIPI00102377.
RefSeqNP_115515.2. NM_032139.2.
UniGeneHs.59236.

3D structure databases

HSSPHSSP built from PDB template 1AWC based on UniProtKB Q00420.
ProteinModelPortalQ96NW4.
SMRQ96NW4. Positions 152-366, 396-897.
ModBaseSearch...

Protein-protein interaction databases

MINTMINT-1198049.
STRINGQ96NW4.

PTM databases

PhosphoSiteQ96NW4.

Polymorphism databases

DMDM125987706.

Proteomic databases

PRIDEQ96NW4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306065; ENSP00000304292; ENSG00000105186.
GeneID84079.
KEGGhsa:84079.
UCSCuc002ntn.1. human.

Organism-specific databases

CTD84079.
GeneCardsGC19M033087.
H-InvDBHIX0014992.
HGNCHGNC:25310. ANKRD27.
HPAHPA042769.
neXtProtNX_Q96NW4.
PharmGKBPA134893411.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG19199.
GeneTreeENSGT00580000081629.
HOGENOMHBG713582.
HOVERGENHBG080845.
InParanoidQ96NW4.
OMACLFKHIA.
OrthoDBEOG48PMJG.
PhylomeDBQ96NW4.

Gene expression databases

ArrayExpressQ96NW4.
BgeeQ96NW4.
CleanExHS_ANKRD27.
GenevestigatorQ96NW4.

Family and domain databases

InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003123. VPS9.
IPR013995. VPS9_subgr.
[Graphical view]
Gene3DG3DSA:1.25.40.20. ANK. 6 hits.
PfamPF00023. Ank. 3 hits.
PF12796. Ank_2. 2 hits.
PF02204. VPS9. 1 hit.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 8 hits.
SM00167. VPS9. 1 hit.
[Graphical view]
SUPFAMSSF48403. ANK. 2 hits.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 8 hits.
PS51205. VPS9. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio73299.

Entry information

Entry nameANR27_HUMAN
AccessionPrimary (citable) accession number: Q96NW4
Secondary accession number(s): Q71MF5 expand/collapse secondary AC list , 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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families