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Q9NP80 (PLPL8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calcium-independent phospholipase A2-gamma

EC=3.1.1.5
Alternative name(s):
Intracellular membrane-associated calcium-independent phospholipase A2 gamma
Short name=iPLA2-gamma
PNPLA-gamma
Patatin-like phospholipase domain-containing protein 8
iPLA2-2
Gene names
Name:PNPLA8
Synonyms:IPLA22, IPLA2G
ORF Names:BM-043
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length782 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids. Ref.2 Ref.11

Catalytic activity

2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate.

Enzyme regulation

Inhibited by E-6-bromomethylene-3-1-naphthalenyl-2H-tetrahydropyran-2-one (BEL).

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein By similarity. Golgi apparatus membrane; Single-pass membrane protein By similarity. Cytoplasmperinuclear region By similarity Ref.2.

Tissue specificity

Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart. Ref.1 Ref.2 Ref.10 Ref.11

Sequence similarities

Contains 1 patatin domain.

Biophysicochemical properties

pH dependence:

Optimum pH is 8.0.

Sequence caution

The sequence AAF67630.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA92090.1 differs from that shown. Reason: Erroneous initiation.

The sequence EAL24384.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentCytoplasm
Endoplasmic reticulum
Golgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   Molecular functionHydrolase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processarachidonic acid metabolic process

Inferred from direct assay Ref.1Ref.11. Source: UniProtKB

arachidonic acid secretion

Inferred from direct assay Ref.1Ref.11. Source: UniProtKB

cell death

Inferred from direct assay Ref.11. Source: UniProtKB

glycerophospholipid biosynthetic process

Traceable author statement. Source: Reactome

linoleic acid metabolic process

Inferred from direct assay Ref.11. Source: UniProtKB

phosphatidylcholine acyl-chain remodeling

Traceable author statement. Source: Reactome

phosphatidylcholine catabolic process

Inferred from direct assay Ref.11. Source: UniProtKB

phosphatidylethanolamine acyl-chain remodeling

Traceable author statement. Source: Reactome

phosphatidylethanolamine catabolic process

Inferred from direct assay Ref.11. Source: UniProtKB

prostaglandin biosynthetic process

Inferred from direct assay Ref.11. Source: UniProtKB

   Cellular_componentGolgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

peroxisomal membrane

Inferred from direct assay Ref.2. Source: UniProtKB

   Molecular_functionATP binding

Non-traceable author statement Ref.2. Source: UniProtKB

calcium-independent phospholipase A2 activity

Inferred from direct assay Ref.2Ref.1Ref.11. Source: UniProtKB

lysophospholipase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NP80-1)

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: Q9NP80-2)

The sequence of this isoform differs from the canonical sequence as follows:
     565-626: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NP80-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 782782Calcium-independent phospholipase A2-gamma
PRO_0000303214

Regions

Transmembrane475 – 49521Helical; Potential
Domain445 – 640196Patatin
Motif481 – 4855GXSXG

Amino acid modifications

Modified residue7361N6-succinyllysine By similarity
Glycosylation41N-linked (GlcNAc...) Potential
Glycosylation3611N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 100100Missing in isoform 3.
VSP_045594
Alternative sequence565 – 62662Missing in isoform 2.
VSP_028005

Experimental info

Sequence conflict570 – 5756NRGITP → IGGITH in AAF67630. Ref.9
Sequence conflict570 – 5712NR → GI in BAA92090. Ref.8
Sequence conflict6221N → S in BAA92090. Ref.8
Sequence conflict6231D → G in BX647865. Ref.3

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: C66AD18A53AF649A

FASTA78288,477
        10         20         30         40         50         60 
MSINLTVDIY IYLLSNARSV CGKQRSKQLY FLFSPKHYWR ISHISLQRGF HTNIIRCKWT 

        70         80         90        100        110        120 
KSEAHSCSKH CYSPSNHGLH IGILKLSTSA PKGLTKVNIC MSRIKSTLNS VSKAVFGNQN 

       130        140        150        160        170        180 
EMISRLAQFK PSSQILRKVS DSGWLKQKNI KQAIKSLKKY SDKSAEKSPF PEEKSHIIDK 

       190        200        210        220        230        240 
EEDIGKRSLF HYTSSITTKF GDSFYFLSNH INSYFKRKEK MSQQKENEHF RDKSELEDKK 

       250        260        270        280        290        300 
VEEGKLRSPD PGILAYKPGS ESVHTVDKPT SPSAIPDVLQ VSTKQSIANF LSRPTEGVQA 

       310        320        330        340        350        360 
LVGGYIGGLV PKLKYDSKSQ SEEQEEPAKT DQAVSKDRNA EEKKRLSLQR EKIIARVSID 

       370        380        390        400        410        420 
NRTRALVQAL RRTTDPKLCI TRVEELTFHL LEFPEGKGVA VKERIIPYLL RLRQIKDETL 

       430        440        450        460        470        480 
QAAVREILAL IGYVDPVKGR GIRILSIDGG GTRGVVALQT LRKLVELTQK PVHQLFDYIC 

       490        500        510        520        530        540 
GVSTGAILAF MLGLFHMPLD ECEELYRKLG SDVFSQNVIV GTVKMSWSHA FYDSQTWENI 

       550        560        570        580        590        600 
LKDRMGSALM IETARNPTCP KVAAVSTIVN RGITPKAFVF RNYGHFPGIN SHYLGGCQYK 

       610        620        630        640        650        660 
MWQAIRASSA APGYFAEYAL GNDLHQDGGL LLNNPSALAM HECKCLWPDV PLECIVSLGT 

       670        680        690        700        710        720 
GRYESDVRNT VTYTSLKTKL SNVINSATDT EEVHIMLDGL LPPDTYFRFN PVMCENIPLD 

       730        740        750        760        770        780 
ESRNEKLDQL QLEGLKYIER NEQKMKKVAK ILSQEKTTLQ KINDWIKLKT DMYEGLPFFS 


KL 

« Hide

Isoform 2 [UniParc].

Checksum: C5FEF9D74A3E9954
Show »

FASTA72081,602
Isoform 3 [UniParc].

Checksum: B42D353E75FE540D
Show »

FASTA68277,031

References

« Hide 'large scale' references
[1]"A novel intracellular membrane-bound calcium-independent phospholipase A(2)."
Tanaka H., Takeya R., Sumimoto H.
Biochem. Biophys. Res. Commun. 272:320-326(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"The genomic organization, complete mRNA sequence, cloning, and expression of a novel human intracellular membrane-associated calcium-independent phospholipase A(2)."
Mancuso D.J., Jenkins C.M., Gross R.W.
J. Biol. Chem. 275:9937-9945(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CHARACTERIZATION.
Tissue: Heart.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Tissue: Adipocyte and Amygdala.
[4]"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].
[5]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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.
[8]"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] OF 16-739 (ISOFORM 1).
Tissue: Placenta.
[9]"A novel gene expressed in human bone marrow."
Zhao M., Gu J., Li N., Peng Y., Han Z., Chen Z.
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 570-782 (ISOFORM 1).
Tissue: Bone marrow.
[10]"Identification and distribution of endoplasmic reticulum iPLA2."
Kinsey G.R., Cummings B.S., Beckett C.S., Saavedra G., Zhang W., McHowat J., Schnellmann R.G.
Biochem. Biophys. Res. Commun. 327:287-293(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[11]"Group VIB Ca2+-independent phospholipase A2gamma promotes cellular membrane hydrolysis and prostaglandin production in a manner distinct from other intracellular phospholipases A2."
Murakami M., Masuda S., Ueda-Semmyo K., Yoda E., Kuwata H., Takanezawa Y., Aoki J., Arai H., Sumimoto H., Ishikawa Y., Ishii T., Nakatani Y., Kudo I.
J. Biol. Chem. 280:14028-14041(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB041261 mRNA. Translation: BAA94997.1.
AF263613 mRNA. Translation: AAF75269.1.
AF263947 mRNA. Translation: AAF81246.1.
AL834147 mRNA. Translation: CAD38859.1.
BX647865 mRNA. No translation available.
AC005058 Genomic DNA. Translation: AAD08847.1.
CH236947 Genomic DNA. Translation: EAL24384.1. Sequence problems.
CH236947 Genomic DNA. Translation: EAL24385.1.
CH471070 Genomic DNA. Translation: EAW83433.1.
BC032999 mRNA. Translation: AAH32999.1.
AK002115 mRNA. Translation: BAA92090.1. Different initiation.
AK024335 mRNA. Translation: BAB14890.1.
AF217519 mRNA. Translation: AAF67630.1. Different initiation.
PIRJC7284.
RefSeqNP_001242936.1. NM_001256007.1.
NP_001242937.1. NM_001256008.1.
NP_001242938.1. NM_001256009.1.
NP_001242939.1. NM_001256010.1.
NP_001242940.1. NM_001256011.1.
NP_056538.1. NM_015723.3.
XP_005250452.1. XM_005250395.1.
XP_005250453.1. XM_005250396.1.
UniGeneHs.617340.

3D structure databases

ProteinModelPortalQ9NP80.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119111. 1 interaction.
MINTMINT-4725725.
STRING9606.ENSP00000257694.

Chemistry

ChEMBLCHEMBL2189126.

PTM databases

PhosphoSiteQ9NP80.

Polymorphism databases

DMDM74734299.

Proteomic databases

PaxDbQ9NP80.
PRIDEQ9NP80.

Protocols and materials databases

DNASU50640.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257694; ENSP00000257694; ENSG00000135241. [Q9NP80-1]
ENST00000422087; ENSP00000410804; ENSG00000135241. [Q9NP80-1]
ENST00000426128; ENSP00000394988; ENSG00000135241. [Q9NP80-2]
ENST00000436062; ENSP00000406779; ENSG00000135241. [Q9NP80-1]
ENST00000453085; ENSP00000402274; ENSG00000135241.
ENST00000453144; ENSP00000387789; ENSG00000135241. [Q9NP80-3]
GeneID50640.
KEGGhsa:50640.
UCSCuc003vff.2. human. [Q9NP80-1]
uc031syz.1. human. [Q9NP80-2]

Organism-specific databases

CTD50640.
GeneCardsGC07M108110.
HGNCHGNC:28900. PNPLA8.
HPAHPA020083.
MIM612123. gene.
neXtProtNX_Q9NP80.
PharmGKBPA145148236.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3621.
HOVERGENHBG102100.
InParanoidQ9NP80.
KOK16815.
OMANSHYLGG.
PhylomeDBQ9NP80.
TreeFamTF319230.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9NP80.
BgeeQ9NP80.
CleanExHS_PNPLA8.
GenevestigatorQ9NP80.

Family and domain databases

InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMSSF52151. SSF52151. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPNPLA8. human.
GeneWikiPNPLA8.
GenomeRNAi50640.
NextBio53186.
PROQ9NP80.
SOURCESearch...

Entry information

Entry namePLPL8_HUMAN
AccessionPrimary (citable) accession number: Q9NP80
Secondary accession number(s): A4D0S1 expand/collapse secondary AC list , C9JZI4, O95035, Q8N3I3, Q9H7T5, Q9NR17, Q9NUN2, Q9NZ79
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 1, 2000
Last modified: March 19, 2014
This is version 106 of the entry and version 1 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 chromosome 7

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