Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P49754 (VPS41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vacuolar protein sorting-associated protein 41 homolog
Alternative name(s):
S53
Gene names
Name:VPS41
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for vacuolar assembly and vacuolar traffic. Ref.1

Sequence similarities

Belongs to the VPS41 family.

Contains 1 CHCR (clathrin heavy-chain) repeat.

Contains 1 RING-type zinc finger.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

VIPAS39Q9H9C14EBI-2130459,EBI-749080

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P49754-1)

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: P49754-2)

The sequence of this isoform differs from the canonical sequence as follows:
     802-802: D → E
     803-854: Missing.
Isoform 3 (identifier: P49754-3)

The sequence of this isoform differs from the canonical sequence as follows:
     83-107: Missing.
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Vacuolar protein sorting-associated protein 41 homolog
PRO_0000212823

Regions

Repeat568 – 712145CHCR
Zinc finger791 – 83949RING-type; atypical
Compositional bias18 – 2710Poly-Glu

Natural variations

Alternative sequence83 – 10725Missing in isoform 3.
VSP_054169
Alternative sequence8021D → E in isoform 2.
VSP_006751
Alternative sequence803 – 85452Missing in isoform 2.
VSP_006752
Natural variant1461T → P.
Corresponds to variant rs35693565 [ dbSNP | Ensembl ].
VAR_047914
Natural variant6471C → R.
Corresponds to variant rs11762417 [ dbSNP | Ensembl ].
VAR_047915
Natural variant8431R → H.
Corresponds to variant rs1059508 [ dbSNP | Ensembl ].
VAR_047916

Experimental info

Sequence conflict51E → V in AAB47563. Ref.1
Sequence conflict615 – 6184KQIS → WHEG in AAC42004. Ref.4
Sequence conflict736 – 7449IPNLRDSLV → DPQFERFLG in AAC42004. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 16, 2008. Version 3.
Checksum: 037577D5FA3A18A0

FASTA85498,566
        10         20         30         40         50         60 
MAEAEEQETG SLEESTDESE EEESEEEPKL KYERLSNGVT EILQKDAASC MTVHDKFLAL 

        70         80         90        100        110        120 
GTHYGKVYLL DVQGNITQKF DVSPVKINQI SLDESGEHMG VCSEDGKVQV FGLYSGEEFH 

       130        140        150        160        170        180 
ETFDCPIKII AVHPHFVRSS CKQFVTGGKK LLLFERSWMN RWKSAVLHEG EGNIRSVKWR 

       190        200        210        220        230        240 
GHLIAWANNM GVKIFDIISK QRITNVPRDD ISLRPDMYPC SLCWKDNVTL IIGWGTSVKV 

       250        260        270        280        290        300 
CSVKERHASE MRDLPSRYVE IVSQFETEFY ISGLAPLCDQ LVVLSYVKEI SEKTEREYCA 

       310        320        330        340        350        360 
RPRLDIIQPL SETCEEISSD ALTVRGFQEN ECRDYHLEYS EGESLFYIVS PRDVVVAKER 

       370        380        390        400        410        420 
DQDDHIDWLL EKKKYEEALM AAEISQKNIK RHKILDIGLA YINHLVERGD YDIAARKCQK 

       430        440        450        460        470        480 
ILGKNAALWE YEVYKFKEIG QLKAISPYLP RGDPVLKPLI YEMILHEFLE SDYEGFATLI 

       490        500        510        520        530        540 
REWPGDLYNN SVIVQAVRDH LKKDSQNKTL LKTLAELYTY DKNYGNALEI YLTLRHKDVF 

       550        560        570        580        590        600 
QLIHKHNLFS SIKDKIVLLM DFDSEKAVDM LLDNEDKISI KKVVEELEDR PELQHVYLHK 

       610        620        630        640        650        660 
LFKRDHHKGQ RYHEKQISLY AEYDRPNLLP FLRDSTHCPL EKALEICQQR NFVEETVYLL 

       670        680        690        700        710        720 
SRMGNSRSAL KMIMEELHDV DKAIEFAKEQ DDGELWEDLI LYSIDKPPFI TGLLNNIGTH 

       730        740        750        760        770        780 
VDPILLIHRI KEGMEIPNLR DSLVKILQDY NLQILLREGC KKILVADSLS LLKKMHRTQM 

       790        800        810        820        830        840 
KGVLVDEENI CESCLSPILP SDAAKPFSVV VFHCRHMFHK ECLPMPSMNS AAQFCNICSA 

       850 
KNRGPGSAIL EMKK 

« Hide

Isoform 2 [UniParc].

Checksum: A55F7C217AC0D88E
Show »

FASTA80292,846
Isoform 3 [UniParc].

Checksum: 6F1E1E9EAA2859B4
Show »

FASTA82995,924

References

« Hide 'large scale' references
[1]"Characterization of VPS41, a gene required for vacuolar trafficking and high-affinity iron transport in yeast."
Radisky D.C., Snyder W.B., Emr S.D., Kaplan J.
Proc. Natl. Acad. Sci. U.S.A. 94:5662-5666(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION.
Tissue: Heart.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[4]"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease."
Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.-F., Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Pinessi L. expand/collapse author list , Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R.J., Wasco W., da Silva H.A.R., Haines J.L., Pericak-Vance M.A., Tanzi R.E., Roses A.D., Fraser P.E., Rommens J.M., St George-Hyslop P.H.
Nature 375:754-760(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 615-744.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U87281 mRNA. Translation: AAB47758.1.
U87309 mRNA. Translation: AAB47563.1.
AC004850 Genomic DNA. No translation available.
AC005247 Genomic DNA. No translation available.
AC011292 Genomic DNA. No translation available.
BC044851 mRNA. Translation: AAH44851.1.
L40398 mRNA. Translation: AAC42004.1.
CCDSCCDS5457.1. [P49754-1]
RefSeqNP_055211.2. NM_014396.3. [P49754-1]
NP_542198.2. NM_080631.3. [P49754-3]
UniGeneHs.592184.

3D structure databases

ProteinModelPortalP49754.
SMRP49754. Positions 57-135, 170-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117982. 17 interactions.
IntActP49754. 6 interactions.
MINTMINT-1187089.
STRING9606.ENSP00000309457.

PTM databases

PhosphoSiteP49754.

Polymorphism databases

DMDM218512109.

Proteomic databases

MaxQBP49754.
PaxDbP49754.
PRIDEP49754.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310301; ENSP00000309457; ENSG00000006715. [P49754-1]
ENST00000395969; ENSP00000379297; ENSG00000006715.
GeneID27072.
KEGGhsa:27072.
UCSCuc003tgy.3. human. [P49754-1]

Organism-specific databases

CTD27072.
GeneCardsGC07M039137.
H-InvDBHIX0006614.
HGNCHGNC:12713. VPS41.
HPAHPA020080.
HPA020299.
MIM605485. gene.
neXtProtNX_P49754.
PharmGKBPA37328.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285467.
HOGENOMHOG000247002.
HOVERGENHBG056494.
InParanoidP49754.
OMAICSAKHR.
OrthoDBEOG7DVD9K.
PhylomeDBP49754.
TreeFamTF300451.

Gene expression databases

ArrayExpressP49754.
BgeeP49754.
CleanExHS_VPS41.
GenevestigatorP49754.

Family and domain databases

Gene3D1.25.40.10. 1 hit.
2.130.10.10. 1 hit.
3.30.40.10. 1 hit.
InterProIPR000547. Clathrin_H-chain/VPS_repeat.
IPR011990. TPR-like_helical.
IPR016902. VPS41.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF00637. Clathrin. 1 hit.
[Graphical view]
PIRSFPIRSF028921. VPS41. 1 hit.
SMARTSM00299. CLH. 1 hit.
SM00184. RING. 1 hit.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50236. CHCR. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSVPS41. human.
GenomeRNAi27072.
NextBio49663.
PROP49754.
SOURCESearch...

Entry information

Entry nameVPS41_HUMAN
AccessionPrimary (citable) accession number: P49754
Secondary accession number(s): E9PF36 expand/collapse secondary AC list , Q86TP8, Q99851, Q99852
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 16, 2008
Last modified: July 9, 2014
This is version 122 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM