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O60493 (SNX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sorting nexin-3
Alternative name(s):
Protein SDP3
Gene names
Name:SNX3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length162 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G By similarity. Not involved in EGFR degradation. Ref.2 Ref.13

Subunit structure

Interacts with USP10 and SCNN1A By similarity.

Subcellular location

Early endosome Ref.2.

Domain

The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Ref.2

Post-translational modification

Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 By similarity.

Involvement in disease

Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Note: The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12). Ref.11

Sequence similarities

Belongs to the sorting nexin family.

Contains 1 PX (phox homology) domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CRKP461082EBI-727209,EBI-886

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60493-1)

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: O60493-2)

Also known as: SNX 3A;

The sequence of this isoform differs from the canonical sequence as follows:
     55-86: Missing.
Isoform 3 (identifier: O60493-3)

The sequence of this isoform differs from the canonical sequence as follows:
     87-162: VVVPPLPGKA...SYTPSKIRHA → PCLRMTSEARSHGRTWCAQNDEKLFCD
Note: No experimental confirmation available.
Isoform 4 (identifier: O60493-4)

The sequence of this isoform differs from the canonical sequence as follows:
     33-54: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.10
Chain2 – 162161Sorting nexin-3
PRO_0000213840

Regions

Domain27 – 151125PX

Sites

Binding site701Phosphatidylinositol 3-phosphate By similarity
Binding site721Phosphatidylinositol 3-phosphate; via amide nitrogen and carbonyl oxygen By similarity
Binding site951Phosphatidylinositol 3-phosphate By similarity
Binding site1181Phosphatidylinositol 3-phosphate By similarity

Amino acid modifications

Modified residue21N-acetylalanine Ref.10 Ref.15
Modified residue721Phosphoserine Ref.14 Ref.16

Natural variations

Alternative sequence33 – 5422Missing in isoform 4.
VSP_014694
Alternative sequence55 – 8632Missing in isoform 2.
VSP_006190
Alternative sequence87 – 16276VVVPP…KIRHA → PCLRMTSEARSHGRTWCAQN DEKLFCD in isoform 3.
VSP_012928

Experimental info

Mutagenesis69 – 713RRY → AAA: Abolishes binding to phosphatidylinositol 3-phosphate. Ref.2
Mutagenesis711Y → A: Abolishes binding to phosphatidylinositol 3-phosphate. Ref.2
Sequence conflict100 – 1012QL → HF in AAC16018. Ref.2
Sequence conflict1511D → V in BAF82165. Ref.4

Secondary structure

................. 162
Helix Strand Turn

Details...

Sequences

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

Last modified January 23, 2007. Version 3.
Checksum: 983D422FCA6E07BC

FASTA16218,762
        10         20         30         40         50         60 
MAETVADTRR LITKPQNLND AYGPPSNFLE IDVSNPQTVG VGRGRFTTYE IRVKTNLPIF 

        70         80         90        100        110        120 
KLKESTVRRR YSDFEWLRSE LERESKVVVP PLPGKAFLRQ LPFRGDDGIF DDNFIEERKQ 

       130        140        150        160 
GLEQFINKVA GHPLAQNERC LHMFLQDEII DKSYTPSKIR HA 

« Hide

Isoform 2 (SNX 3A) [UniParc].

Checksum: 39DD7F3E916554AD
Show »

FASTA13014,766
Isoform 3 [UniParc].

Checksum: F8C0774B88153F42
Show »

FASTA11313,172
Isoform 4 [UniParc].

Checksum: 01710ACF7D256DCA
Show »

FASTA14016,316

References

« Hide 'large scale' references
[1]"Identification of a family of sorting nexin molecules and characterization of their association with receptors."
Haft C.R., de la Luz Sierra M., Barr V.A., Haft D.H., Taylor S.I.
Mol. Cell. Biol. 18:7278-7287(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P."
Xu Y., Hortsman H., Seet L., Wong S.H., Hong W.
Nat. Cell Biol. 3:658-666(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, PHOSPHOINOSITIDE-BINDING, DOMAIN PX, MUTAGENESIS OF 69-ARG--TYR-71 AND TYR-71.
[3]"Homo sapiens sorting nexin 3A (SNX 3A) mRNA."
Hayama A., Uchida S., Sasaki S., Marumo F.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[5]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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] (ISOFORMS 1 AND 3).
Tissue: Brain, Colon, Pancreas and Skin.
[10]"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-10, ACETYLATION AT ALA-2.
Tissue: Platelet.
[11]"Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype."
Vervoort V.S., Viljoen D., Smart R., Suthers G., DuPont B.R., Abbott A., Schwartz C.E.
J. Med. Genet. 39:893-899(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN MCOPS8.
[12]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"Hrs and SNX3 functions in sorting and membrane invagination within multivesicular bodies."
Pons V., Luyet P.P., Morel E., Abrami L., van der Goot F.G., Parton R.G., Gruenberg J.
PLoS Biol. 6:E214-E214(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[14]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-72, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-72, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[17]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[18]"Crystal structure of the PX domain of human sorting nexin 3."
Structural genomics consortium (SGC)
Submitted (MAR-2013) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 24-155.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF034546 mRNA. Translation: AAC16040.1.
AF062483 mRNA. Translation: AAC16018.1.
AB047360 mRNA. Translation: BAB32649.1.
AK289476 mRNA. Translation: BAF82165.1.
BT007114 mRNA. Translation: AAP35778.1.
CR456898 mRNA. Translation: CAG33179.1.
AL078596, Z98742 Genomic DNA. Translation: CAI20817.1.
AL078596, Z98742 Genomic DNA. Translation: CAI20818.1.
AL078596, Z98742 Genomic DNA. Translation: CAI20819.1.
Z98742, AL078596 Genomic DNA. Translation: CAI95646.1.
Z98742, AL078596 Genomic DNA. Translation: CAI95647.1.
Z98742, AL078596 Genomic DNA. Translation: CAI95648.1.
CH471051 Genomic DNA. Translation: EAW48378.1.
CH471051 Genomic DNA. Translation: EAW48379.1.
CH471051 Genomic DNA. Translation: EAW48381.1.
CH471051 Genomic DNA. Translation: EAW48382.1.
BC008444 mRNA. Translation: AAH08444.1.
BC014580 mRNA. Translation: AAH14580.1.
BC015179 mRNA. Translation: AAH15179.1.
BC016863 mRNA. Translation: AAH16863.1.
RefSeqNP_003786.1. NM_003795.4.
NP_690040.1. NM_152827.2.
XP_005267249.1. XM_005267192.1.
UniGeneHs.12102.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YPSX-ray2.60A/B/C/D24-155[»]
ProteinModelPortalO60493.
SMRO60493. Positions 24-148.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114263. 30 interactions.
IntActO60493. 9 interactions.
MINTMINT-1421811.

PTM databases

PhosphoSiteO60493.

2D gel databases

REPRODUCTION-2DPAGEIPI00815770.
UCD-2DPAGEO60493.

Proteomic databases

PaxDbO60493.
PRIDEO60493.

Protocols and materials databases

DNASU8724.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230085; ENSP00000230085; ENSG00000112335. [O60493-1]
ENST00000349379; ENSP00000296991; ENSG00000112335. [O60493-4]
ENST00000368979; ENSP00000357975; ENSG00000112335. [O60493-3]
ENST00000368982; ENSP00000357978; ENSG00000112335. [O60493-3]
ENST00000426155; ENSP00000401779; ENSG00000112335. [O60493-2]
GeneID8724.
KEGGhsa:8724.
UCSCuc003psh.3. human. [O60493-1]
uc003psi.3. human. [O60493-2]

Organism-specific databases

CTD8724.
GeneCardsGC06M108578.
H-InvDBHIX0006117.
HGNCHGNC:11174. SNX3.
HPAHPA028638.
MIM601349. phenotype.
605930. gene.
neXtProtNX_O60493.
Orphanet3434. MMEP syndrome.
PharmGKBPA36013.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5391.
HOVERGENHBG055338.
InParanoidO60493.
KOK17918.
OMATPSKIRQ.
OrthoDBEOG7GJ6G1.
PhylomeDBO60493.
TreeFamTF314980.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

BgeeO60493.
CleanExHS_SNX3.
GenevestigatorO60493.

Family and domain databases

Gene3D3.30.1520.10. 1 hit.
InterProIPR001683. Phox.
[Graphical view]
PfamPF00787. PX. 1 hit.
[Graphical view]
SMARTSM00312. PX. 1 hit.
[Graphical view]
SUPFAMSSF64268. SSF64268. 1 hit.
PROSITEPS50195. PX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSNX3.
GenomeRNAi8724.
NextBio32723.
PROO60493.
SOURCESearch...

Entry information

Entry nameSNX3_HUMAN
AccessionPrimary (citable) accession number: O60493
Secondary accession number(s): A8K0B1 expand/collapse secondary AC list , E1P5E4, E1P5E5, O60718, Q4TT29, Q4TT31, Q5JXJ7, Q5JXJ8, Q96AP9, Q9C0J5, Q9NU45
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 130 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM