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P49754

- VPS41_HUMAN

UniProt

P49754 - VPS41_HUMAN

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Protein

Vacuolar protein sorting-associated protein 41 homolog

Gene

VPS41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for vacuolar assembly and vacuolar traffic.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri791 – 83949RING-type; atypicalPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. zinc ion binding Source: InterPro

GO - Biological processi

  1. Golgi vesicle transport Source: UniProtKB
  2. intracellular protein transport Source: InterPro
  3. vesicle-mediated transport Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 41 homolog
Alternative name(s):
S53
Gene namesi
Name:VPS41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:12713. VPS41.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. early endosome Source: Ensembl
  3. Golgi-associated vesicle Source: UniProtKB
  4. HOPS complex Source: UniProtKB
  5. late endosome Source: Ensembl
  6. lysosomal membrane Source: UniProtKB
  7. membrane Source: UniProtKB
  8. microtubule cytoskeleton Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37328.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 854854Vacuolar protein sorting-associated protein 41 homologPRO_0000212823Add
BLAST

Proteomic databases

MaxQBiP49754.
PaxDbiP49754.
PRIDEiP49754.

PTM databases

PhosphoSiteiP49754.

Expressioni

Gene expression databases

BgeeiP49754.
CleanExiHS_VPS41.
ExpressionAtlasiP49754. baseline and differential.
GenevestigatoriP49754.

Organism-specific databases

HPAiHPA020080.
HPA020299.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
VIPAS39Q9H9C14EBI-2130459,EBI-749080

Protein-protein interaction databases

BioGridi117982. 20 interactions.
IntActiP49754. 6 interactions.
MINTiMINT-1187089.
STRINGi9606.ENSP00000309457.

Structurei

3D structure databases

ProteinModelPortaliP49754.
SMRiP49754. Positions 56-115, 171-199.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati568 – 712145CHCRAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi18 – 2710Poly-Glu

Sequence similaritiesi

Belongs to the VPS41 family.Curated
Contains 1 CHCR (clathrin heavy-chain) repeat.PROSITE-ProRule annotation
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri791 – 83949RING-type; atypicalPROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG285467.
GeneTreeiENSGT00390000000481.
HOGENOMiHOG000247002.
HOVERGENiHBG056494.
InParanoidiP49754.
OMAiICSAKHR.
OrthoDBiEOG7DVD9K.
PhylomeDBiP49754.
TreeFamiTF300451.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
2.130.10.10. 1 hit.
3.30.40.10. 1 hit.
InterProiIPR000547. Clathrin_H-chain/VPS_repeat.
IPR011990. TPR-like_helical_dom.
IPR016902. VPS41.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00637. Clathrin. 1 hit.
[Graphical view]
PIRSFiPIRSF028921. VPS41. 1 hit.
SMARTiSM00299. CLH. 1 hit.
SM00184. RING. 1 hit.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50236. CHCR. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P49754-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAEAEEQETG SLEESTDESE EEESEEEPKL KYERLSNGVT EILQKDAASC
60 70 80 90 100
MTVHDKFLAL GTHYGKVYLL DVQGNITQKF DVSPVKINQI SLDESGEHMG
110 120 130 140 150
VCSEDGKVQV FGLYSGEEFH ETFDCPIKII AVHPHFVRSS CKQFVTGGKK
160 170 180 190 200
LLLFERSWMN RWKSAVLHEG EGNIRSVKWR GHLIAWANNM GVKIFDIISK
210 220 230 240 250
QRITNVPRDD ISLRPDMYPC SLCWKDNVTL IIGWGTSVKV CSVKERHASE
260 270 280 290 300
MRDLPSRYVE IVSQFETEFY ISGLAPLCDQ LVVLSYVKEI SEKTEREYCA
310 320 330 340 350
RPRLDIIQPL SETCEEISSD ALTVRGFQEN ECRDYHLEYS EGESLFYIVS
360 370 380 390 400
PRDVVVAKER DQDDHIDWLL EKKKYEEALM AAEISQKNIK RHKILDIGLA
410 420 430 440 450
YINHLVERGD YDIAARKCQK ILGKNAALWE YEVYKFKEIG QLKAISPYLP
460 470 480 490 500
RGDPVLKPLI YEMILHEFLE SDYEGFATLI REWPGDLYNN SVIVQAVRDH
510 520 530 540 550
LKKDSQNKTL LKTLAELYTY DKNYGNALEI YLTLRHKDVF QLIHKHNLFS
560 570 580 590 600
SIKDKIVLLM DFDSEKAVDM LLDNEDKISI KKVVEELEDR PELQHVYLHK
610 620 630 640 650
LFKRDHHKGQ RYHEKQISLY AEYDRPNLLP FLRDSTHCPL EKALEICQQR
660 670 680 690 700
NFVEETVYLL SRMGNSRSAL KMIMEELHDV DKAIEFAKEQ DDGELWEDLI
710 720 730 740 750
LYSIDKPPFI TGLLNNIGTH VDPILLIHRI KEGMEIPNLR DSLVKILQDY
760 770 780 790 800
NLQILLREGC KKILVADSLS LLKKMHRTQM KGVLVDEENI CESCLSPILP
810 820 830 840 850
SDAAKPFSVV VFHCRHMFHK ECLPMPSMNS AAQFCNICSA KNRGPGSAIL

EMKK
Length:854
Mass (Da):98,566
Last modified:December 16, 2008 - v3
Checksum:i037577D5FA3A18A0
GO
Isoform 2 (identifier: P49754-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     802-802: D → E
     803-854: Missing.

Show »
Length:802
Mass (Da):92,846
Checksum:iA55F7C217AC0D88E
GO
Isoform 3 (identifier: P49754-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:829
Mass (Da):95,924
Checksum:i6F1E1E9EAA2859B4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51E → V in AAB47563. (PubMed:9159129)Curated
Sequence conflicti615 – 6184KQIS → WHEG in AAC42004. (PubMed:7596406)Curated
Sequence conflicti736 – 7449IPNLRDSLV → DPQFERFLG in AAC42004. (PubMed:7596406)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461T → P.
Corresponds to variant rs35693565 [ dbSNP | Ensembl ].
VAR_047914
Natural varianti647 – 6471C → R.
Corresponds to variant rs11762417 [ dbSNP | Ensembl ].
VAR_047915
Natural varianti843 – 8431R → H.
Corresponds to variant rs1059508 [ dbSNP | Ensembl ].
VAR_047916

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei83 – 10725Missing in isoform 3. CuratedVSP_054169Add
BLAST
Alternative sequencei802 – 8021D → E in isoform 2. 1 PublicationVSP_006751
Alternative sequencei803 – 85452Missing in isoform 2. 1 PublicationVSP_006752Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5457.1. [P49754-1]
CCDS5458.2. [P49754-3]
RefSeqiNP_055211.2. NM_014396.3. [P49754-1]
NP_542198.2. NM_080631.3. [P49754-3]
UniGeneiHs.592184.

Genome annotation databases

EnsembliENST00000310301; ENSP00000309457; ENSG00000006715. [P49754-1]
ENST00000395969; ENSP00000379297; ENSG00000006715. [P49754-3]
GeneIDi27072.
KEGGihsa:27072.
UCSCiuc003tgy.3. human. [P49754-1]

Polymorphism databases

DMDMi218512109.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5457.1. [P49754-1 ]
CCDS5458.2. [P49754-3 ]
RefSeqi NP_055211.2. NM_014396.3. [P49754-1 ]
NP_542198.2. NM_080631.3. [P49754-3 ]
UniGenei Hs.592184.

3D structure databases

ProteinModelPortali P49754.
SMRi P49754. Positions 56-115, 171-199.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117982. 20 interactions.
IntActi P49754. 6 interactions.
MINTi MINT-1187089.
STRINGi 9606.ENSP00000309457.

PTM databases

PhosphoSitei P49754.

Polymorphism databases

DMDMi 218512109.

Proteomic databases

MaxQBi P49754.
PaxDbi P49754.
PRIDEi P49754.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310301 ; ENSP00000309457 ; ENSG00000006715 . [P49754-1 ]
ENST00000395969 ; ENSP00000379297 ; ENSG00000006715 . [P49754-3 ]
GeneIDi 27072.
KEGGi hsa:27072.
UCSCi uc003tgy.3. human. [P49754-1 ]

Organism-specific databases

CTDi 27072.
GeneCardsi GC07M039370.
H-InvDB HIX0006614.
HGNCi HGNC:12713. VPS41.
HPAi HPA020080.
HPA020299.
MIMi 605485. gene.
neXtProti NX_P49754.
PharmGKBi PA37328.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG285467.
GeneTreei ENSGT00390000000481.
HOGENOMi HOG000247002.
HOVERGENi HBG056494.
InParanoidi P49754.
OMAi ICSAKHR.
OrthoDBi EOG7DVD9K.
PhylomeDBi P49754.
TreeFami TF300451.

Miscellaneous databases

ChiTaRSi VPS41. human.
GenomeRNAii 27072.
NextBioi 49663.
PROi P49754.
SOURCEi Search...

Gene expression databases

Bgeei P49754.
CleanExi HS_VPS41.
ExpressionAtlasi P49754. baseline and differential.
Genevestigatori P49754.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
2.130.10.10. 1 hit.
3.30.40.10. 1 hit.
InterProi IPR000547. Clathrin_H-chain/VPS_repeat.
IPR011990. TPR-like_helical_dom.
IPR016902. VPS41.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF00637. Clathrin. 1 hit.
[Graphical view ]
PIRSFi PIRSF028921. VPS41. 1 hit.
SMARTi SM00299. CLH. 1 hit.
SM00184. RING. 1 hit.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS50236. CHCR. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 615-744.
    Tissue: Brain.

Entry informationi

Entry nameiVPS41_HUMAN
AccessioniPrimary (citable) accession number: P49754
Secondary accession number(s): E9PF36
, Q86TP8, Q99851, Q99852
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 16, 2008
Last modified: October 29, 2014
This is version 125 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3