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O75487

- GPC4_HUMAN

UniProt

O75487 - GPC4_HUMAN

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Protein

Glypican-4

Gene

GPC4

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

Functioni

Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).By similarity

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. carbohydrate metabolic process Source: Reactome
  3. cell proliferation Source: ProtInc
  4. chondroitin sulfate metabolic process Source: Reactome
  5. glycosaminoglycan biosynthetic process Source: Reactome
  6. glycosaminoglycan catabolic process Source: Reactome
  7. glycosaminoglycan metabolic process Source: Reactome
  8. phototransduction, visible light Source: Reactome
  9. retinoid metabolic process Source: Reactome
  10. small molecule metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_120752. HS-GAG degradation.
REACT_121248. HS-GAG biosynthesis.
REACT_121408. A tetrasaccharide linker sequence is required for GAG synthesis.
REACT_24968. Retinoid metabolism and transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Glypican-4
Alternative name(s):
K-glypican
Cleaved into the following chain:
Gene namesi
Name:GPC4
ORF Names:UNQ474/PRO937
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:4452. GPC4.

Subcellular locationi

Cell membrane By similarity; Lipid-anchorGPI-anchor By similarity; Extracellular side By similarity

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. external side of plasma membrane Source: MGI
  3. extracellular vesicular exosome Source: UniProt
  4. Golgi lumen Source: Reactome
  5. integral component of plasma membrane Source: ProtInc
  6. lysosomal lumen Source: Reactome
  7. nucleus Source: UniProt
  8. plasma membrane Source: Reactome
  9. proteinaceous extracellular matrix Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

Orphaneti373. Simpson-Golabi-Behmel syndrome.
PharmGKBiPA28833.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 529511Glypican-4PRO_0000012315Add
BLAST
Chaini19 – ?Secreted glypican-4PRO_0000333847
Propeptidei530 – 55627Removed in mature formSequence AnalysisPRO_0000012316Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei357 – 3571Phosphoserine1 Publication
Glycosylationi494 – 4941O-linked (Xyl...) (glycosaminoglycan)Sequence Analysis
Glycosylationi498 – 4981O-linked (Xyl...) (glycosaminoglycan)Sequence Analysis
Glycosylationi500 – 5001O-linked (Xyl...) (glycosaminoglycan)Sequence Analysis
Glycosylationi514 – 5141N-linked (GlcNAc...)Sequence Analysis
Lipidationi529 – 5291GPI-anchor amidated serineSequence Analysis

Keywords - PTMi

Glycoprotein, GPI-anchor, Heparan sulfate, Lipoprotein, Phosphoprotein, Proteoglycan

Proteomic databases

MaxQBiO75487.
PaxDbiO75487.
PeptideAtlasiO75487.
PRIDEiO75487.

PTM databases

PhosphoSiteiO75487.

Expressioni

Gene expression databases

BgeeiO75487.
CleanExiHS_GPC4.
ExpressionAtlasiO75487. baseline and differential.
GenevestigatoriO75487.

Organism-specific databases

HPAiHPA030836.

Interactioni

Protein-protein interaction databases

BioGridi108530. 7 interactions.
IntActiO75487. 7 interactions.
STRINGi9606.ENSP00000359864.

Structurei

3D structure databases

ProteinModelPortaliO75487.
SMRiO75487. Positions 26-484.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glypican family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG235988.
GeneTreeiENSGT00550000074430.
HOVERGENiHBG003464.
InParanoidiO75487.
KOiK08110.
OMAiQCPSEFE.
OrthoDBiEOG761BTG.
PhylomeDBiO75487.
TreeFamiTF105317.

Family and domain databases

InterProiIPR001863. Glypican.
IPR019803. Glypican_CS.
[Graphical view]
PANTHERiPTHR10822. PTHR10822. 1 hit.
PfamiPF01153. Glypican. 1 hit.
[Graphical view]
PROSITEiPS01207. GLYPICAN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O75487) [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
MARFGLPALL CTLAVLSAAL LAAELKSKSC SEVRRLYVSK GFNKNDAPLH
60 70 80 90 100
EINGDHLKIC PQGSTCCSQE MEEKYSLQSK DDFKSVVSEQ CNHLQAVFAS
110 120 130 140 150
RYKKFDEFFK ELLENAEKSL NDMFVKTYGH LYMQNSELFK DLFVELKRYY
160 170 180 190 200
VVGNVNLEEM LNDFWARLLE RMFRLVNSQY HFTDEYLECV SKYTEQLKPF
210 220 230 240 250
GDVPRKLKLQ VTRAFVAART FAQGLAVAGD VVSKVSVVNP TAQCTHALLK
260 270 280 290 300
MIYCSHCRGL VTVKPCYNYC SNIMRGCLAN QGDLDFEWNN FIDAMLMVAE
310 320 330 340 350
RLEGPFNIES VMDPIDVKIS DAIMNMQDNS VQVSQKVFQG CGPPKPLPAG
360 370 380 390 400
RISRSISESA FSARFRPHHP EERPTTAAGT SLDRLVTDVK EKLKQAKKFW
410 420 430 440 450
SSLPSNVCND ERMAAGNGNE DDCWNGKGKS RYLFAVTGNG LANQGNNPEV
460 470 480 490 500
QVDTSKPDIL ILRQIMALRV MTSKMKNAYN GNDVDFFDIS DESSGEGSGS
510 520 530 540 550
GCEYQQCPSE FDYNATDHAG KSANEKADSA GVRPGAQAYL LTVFCILFLV

MQREWR
Length:556
Mass (Da):62,412
Last modified:May 16, 2003 - v4
Checksum:i827E07FAA0BD8188
GO
Isoform 2 (identifier: O75487-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Note: No experimental confirmation available.

Show »
Length:486
Mass (Da):54,910
Checksum:iB83D796B5B026A96
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti391 – 3911E → D.4 Publications
Corresponds to variant rs1129980 [ dbSNP | Ensembl ].
VAR_016191
Natural varianti442 – 4421A → V.3 Publications
Corresponds to variant rs1048369 [ dbSNP | Ensembl ].
VAR_016192

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7070Missing in isoform 2. 1 PublicationVSP_056570Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF030186 mRNA. Translation: AAC69991.1.
AF064826 mRNA. Translation: AAC31899.1.
AY358507 mRNA. Translation: AAQ88871.1.
AY052833 mRNA. Translation: AAL11018.1.
AK304207 mRNA. Translation: BAG65082.1.
AK312605 mRNA. Translation: BAG35494.1.
AL034400, AL109623 Genomic DNA. Translation: CAI42076.1.
AL109623, AL034400 Genomic DNA. Translation: CAB86664.2.
CH471107 Genomic DNA. Translation: EAX11772.1.
BC017166 mRNA. Translation: AAH17166.1.
CCDSiCCDS14637.1. [O75487-1]
RefSeqiNP_001439.2. NM_001448.2.
UniGeneiHs.58367.

Genome annotation databases

EnsembliENST00000370828; ENSP00000359864; ENSG00000076716. [O75487-1]
GeneIDi2239.
KEGGihsa:2239.
UCSCiuc004exc.1. human. [O75487-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF030186 mRNA. Translation: AAC69991.1 .
AF064826 mRNA. Translation: AAC31899.1 .
AY358507 mRNA. Translation: AAQ88871.1 .
AY052833 mRNA. Translation: AAL11018.1 .
AK304207 mRNA. Translation: BAG65082.1 .
AK312605 mRNA. Translation: BAG35494.1 .
AL034400 , AL109623 Genomic DNA. Translation: CAI42076.1 .
AL109623 , AL034400 Genomic DNA. Translation: CAB86664.2 .
CH471107 Genomic DNA. Translation: EAX11772.1 .
BC017166 mRNA. Translation: AAH17166.1 .
CCDSi CCDS14637.1. [O75487-1 ]
RefSeqi NP_001439.2. NM_001448.2.
UniGenei Hs.58367.

3D structure databases

ProteinModelPortali O75487.
SMRi O75487. Positions 26-484.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108530. 7 interactions.
IntActi O75487. 7 interactions.
STRINGi 9606.ENSP00000359864.

PTM databases

PhosphoSitei O75487.

Proteomic databases

MaxQBi O75487.
PaxDbi O75487.
PeptideAtlasi O75487.
PRIDEi O75487.

Protocols and materials databases

DNASUi 2239.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370828 ; ENSP00000359864 ; ENSG00000076716 . [O75487-1 ]
GeneIDi 2239.
KEGGi hsa:2239.
UCSCi uc004exc.1. human. [O75487-1 ]

Organism-specific databases

CTDi 2239.
GeneCardsi GC0XM132434.
GeneReviewsi GPC4.
HGNCi HGNC:4452. GPC4.
HPAi HPA030836.
MIMi 300168. gene.
neXtProti NX_O75487.
Orphaneti 373. Simpson-Golabi-Behmel syndrome.
PharmGKBi PA28833.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG235988.
GeneTreei ENSGT00550000074430.
HOVERGENi HBG003464.
InParanoidi O75487.
KOi K08110.
OMAi QCPSEFE.
OrthoDBi EOG761BTG.
PhylomeDBi O75487.
TreeFami TF105317.

Enzyme and pathway databases

Reactomei REACT_120752. HS-GAG degradation.
REACT_121248. HS-GAG biosynthesis.
REACT_121408. A tetrasaccharide linker sequence is required for GAG synthesis.
REACT_24968. Retinoid metabolism and transport.

Miscellaneous databases

ChiTaRSi GPC4. human.
GeneWikii Glypican_4.
GenomeRNAii 2239.
NextBioi 35477244.
PROi O75487.
SOURCEi Search...

Gene expression databases

Bgeei O75487.
CleanExi HS_GPC4.
ExpressionAtlasi O75487. baseline and differential.
Genevestigatori O75487.

Family and domain databases

InterProi IPR001863. Glypican.
IPR019803. Glypican_CS.
[Graphical view ]
PANTHERi PTHR10822. PTHR10822. 1 hit.
Pfami PF01153. Glypican. 1 hit.
[Graphical view ]
PROSITEi PS01207. GLYPICAN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome."
    Veugelers M., Vermeesch J., Watanabe K., Yamaguchi Y., Marynen P., David G.
    Genomics 53:1-11(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-391 AND VAL-442.
    Tissue: Brain.
  2. Pilia G., Mazzarella R., Huber R., Crisponi L., Lindsay S., Ireland M., Cao A., Schlessinger D.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-391.
  3. Zhang B., Feng Z., Zhou Y., Peng X., Yuan J., Qiang B.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-391 AND VAL-442.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "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.
    , 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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Trachea.
  6. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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: Skin.
  9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-357, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene."
    Veugelers M., Cat B.D., Muyldermans S.Y., Reekmans G., Delande N., Frints S., Legius E., Fryns J.-P., Schrander-Stumpel C., Weidle B., Magdalena N., David G.
    Hum. Mol. Genet. 9:1321-1328(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASP-391 AND VAL-442.

Entry informationi

Entry nameiGPC4_HUMAN
AccessioniPrimary (citable) accession number: O75487
Secondary accession number(s): B2R6J7
, B4E2C0, Q6ZMA6, Q96L43, Q9NU08, Q9UJN1, Q9UPD9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 16, 2003
Last modified: October 29, 2014
This is version 130 of the entry and version 4 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 X
    Human chromosome X: 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