P49754 (VPS41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Vacuolar protein sorting-associated protein 41 homolog

Alternative name(s):
S53

Gene names

Name:

VPS41

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	854 AA.
Sequence status	Complete.
Protein existence	Evidence 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 clathrin repeat. Contains 1 RING-type zinc finger.

Ontologies

Keywords
Biological process	Protein transport Transport
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Zinc-finger
Ligand	Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Golgi vesicle transport Inferred from mutant phenotype PubMed 11412045. Source: UniProtKB intracellular protein transport Inferred from electronic annotation. Source: InterPro vesicle-mediated transport Inferred from electronic annotation. Source: InterPro
Cellular_component	Golgi-associated vesicle Inferred from mutant phenotype PubMed 11412045. Source: UniProtKB HOPS complex Inferred from direct assay PubMed 19109425. Source: UniProtKB cytosol Inferred from direct assay PubMed 11412045PubMed 11412045. Source: UniProtKB early endosome Inferred from electronic annotation. Source: Compara late endosome Inferred from electronic annotation. Source: Compara membrane Inferred from direct assay PubMed 11412045. Source: UniProtKB microtubule Inferred from electronic annotation. Source: Compara
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
VIPAS39	Q9H9C1	4	EBI-2130459,EBI-749080

Alternative products

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

Isoform Long (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 Short (identifier: P49754-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 854	854	Vacuolar protein sorting-associated protein 41 homolog		PRO_0000212823
Regions
	Repeat	571 – 712	142	Clathrin
	Zinc finger	791 – 839	49	RING-type; atypical
	Compositional bias	18 – 27	10	Poly-Glu
Natural variations
	Alternative sequence	802	1	D → E in isoform Short.		VSP_006751
	Alternative sequence	803 – 854	52	Missing in isoform Short.		VSP_006752
	Natural variant	146	1	T → P. Corresponds to variant rs35693565 [ dbSNP | Ensembl ].		VAR_047914
	Natural variant	647	1	C → R. Corresponds to variant rs11762417 [ dbSNP | Ensembl ].		VAR_047915
	Natural variant	843	1	R → H. Corresponds to variant rs1059508 [ dbSNP | Ensembl ].		VAR_047916
Experimental info
	Sequence conflict	5	1	E → V in AAB47563. Ref.1
	Sequence conflict	615 – 618	4	KQIS → WHEG in AAC42004. Ref.4
	Sequence conflict	736 – 744	9	IPNLRDSLV → DPQFERFLG in AAC42004. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified December 16, 2008. Version 3. Checksum: 037577D5FA3A18A0	FASTA	854	98,566
	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
	Isoform Short [UniParc]. Checksum: A55F7C217AC0D88E	FASTA	802	92,846
	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 KGVLVDEENI CESCLSPILP SE

References

	« Hide 'large scale' referencesShow '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 LONG AND SHORT), 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 LONG). 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. , 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. BC044851 mRNA. Translation: AAH44851.1. L40398 mRNA. Translation: AAC42004.1.
IPI	IPI00028051. IPI00215972.
RefSeq	NP_055211.2. NM_014396.3. NP_542198.2. NM_080631.3.
UniGene	Hs.592184.
3D structure databases
ProteinModelPortal	P49754.
ModBase	Search...
Protein-protein interaction databases
IntAct	P49754. 5 interactions.
MINT	MINT-1187089.
STRING	9606.ENSP00000309457.
PTM databases
PhosphoSite	P49754.
Polymorphism databases
DMDM	218512109.
Proteomic databases
PaxDb	P49754.
PRIDE	P49754.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310301; ENSP00000309457; ENSG00000006715.
GeneID	27072.
KEGG	hsa:27072.
UCSC	uc003tgy.3. human.
Organism-specific databases
CTD	27072.
GeneCards	GC07M038730.
H-InvDB	HIX0006614.
HGNC	HGNC:12713. VPS41.
HPA	HPA020080. HPA020299.
MIM	605485. gene.
neXtProt	NX_P49754.
PharmGKB	PA37328.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG285467.
HOGENOM	HOG000247002.
HOVERGEN	HBG056494.
InParanoid	P49754.
OMA	NLIAWAN.
OrthoDB	EOG4PRSQ1.
PhylomeDB	P49754.
Gene expression databases
ArrayExpress	P49754.
Bgee	P49754.
CleanEx	HS_VPS41.
Genevestigator	P49754.
GermOnline	ENSG00000006715. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 1 hit. 2.130.10.10. 1 hit. 3.30.40.10. 1 hit.
InterPro	IPR000547. 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]
Pfam	PF00637. Clathrin. 1 hit. [Graphical view]
PIRSF	PIRSF028921. VPS41. 1 hit.
SMART	SM00299. CLH. 1 hit. SM00184. RING. 1 hit. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	VPS41. human.
GenomeRNAi	27072.
NextBio	49663.
SOURCE	Search...

Entry information

Entry name

VPS41_HUMAN

Accession

Primary (citable) accession number: P49754
Secondary accession number(s): Q86TP8, Q99851, Q99852

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	December 16, 2008
Last modified:	May 1, 2013
This is version 110 of the entry and version 3 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.