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Q9Y4D7 (PLXD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Plexin-D1
Gene names
Name:PLXND1
Synonyms:KIAA0620
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1925 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature By similarity. Mediates anti-angiogenic signaling in response to SEMA3E. Ref.8

Subunit structure

Interacts with NRP1, SEMA4A, SEMA3A, SEMA3C and SEMA3E By similarity.

Subcellular location

Cell membrane; Single-pass membrane protein By similarity.

Tissue specificity

Detected at low levels in heart, placenta, lung, skeletal muscle, kidney, thymus and liver. Detected at very low levels in brain, colon, spleen, small intestine and peripheral blood leukocytes. Ref.3

Sequence similarities

Belongs to the plexin family.

Contains 3 IPT/TIG domains.

Contains 1 Sema domain.

Sequence caution

The sequence BAA31595.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processAngiogenesis
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

axon guidance

Traceable author statement. Source: Reactome

dichotomous subdivision of terminal units involved in salivary gland branching

Inferred from electronic annotation. Source: Ensembl

endothelial cell migration

Inferred from sequence or structural similarity. Source: UniProtKB

patterning of blood vessels

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

regulation of angiogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cell migration

Inferred from sequence or structural similarity. Source: UniProtKB

semaphorin-plexin signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

synapse assembly

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentintegral component of plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

intracellular

Inferred from electronic annotation. Source: InterPro

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 17318185PubMed 24139859. Source: IntAct

semaphorin receptor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NR4A1P227362EBI-310731,EBI-721550
SEMA3EO150412EBI-310731,EBI-7283693
Sema3eP702752EBI-310731,EBI-8876322From a different organism.
SEMA4AQ9H3S12EBI-310731,EBI-3924922

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y4D7-1)

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: Q9Y4D7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1766-1925: SLPLRFWVNI...DNIYECYSEA → RWRPSSPVLGEHPEEPPVCL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4646 Potential
Chain47 – 19251879Plexin-D1
PRO_0000024676

Regions

Topological domain47 – 12711225Extracellular Potential
Transmembrane1272 – 129221Helical; Potential
Topological domain1293 – 1925633Cytoplasmic Potential
Domain47 – 546500Sema
Domain891 – 97989IPT/TIG 1
Domain981 – 106686IPT/TIG 2
Domain1069 – 116092IPT/TIG 3

Amino acid modifications

Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation1551N-linked (GlcNAc...) Potential
Glycosylation1881N-linked (GlcNAc...) Potential
Glycosylation2241N-linked (GlcNAc...) Potential
Glycosylation4811N-linked (GlcNAc...) Potential
Glycosylation5001N-linked (GlcNAc...) Ref.6 Ref.7
Glycosylation5831N-linked (GlcNAc...) Potential
Glycosylation6961N-linked (GlcNAc...) Potential
Glycosylation7361N-linked (GlcNAc...) Potential
Glycosylation8021N-linked (GlcNAc...) Potential
Glycosylation9651N-linked (GlcNAc...) Potential
Glycosylation10171N-linked (GlcNAc...) Potential
Glycosylation10601N-linked (GlcNAc...) Potential
Glycosylation10991N-linked (GlcNAc...) Potential
Glycosylation11181N-linked (GlcNAc...) Potential
Glycosylation11321N-linked (GlcNAc...) Potential
Glycosylation12371N-linked (GlcNAc...) Potential
Glycosylation12571N-linked (GlcNAc...) Potential
Disulfide bond104 ↔ 114 By similarity
Disulfide bond140 ↔ 148 By similarity
Disulfide bond322 ↔ 445 By similarity
Disulfide bond345 ↔ 389 By similarity
Disulfide bond549 ↔ 566 By similarity
Disulfide bond555 ↔ 600 By similarity
Disulfide bond558 ↔ 575 By similarity
Disulfide bond569 ↔ 581 By similarity
Disulfide bond637 ↔ 661 By similarity

Natural variations

Alternative sequence1766 – 1925160SLPLR…CYSEA → RWRPSSPVLGEHPEEPPVCL in isoform 2.
VSP_011516
Natural variant6171P → S.
Corresponds to variant rs2285372 [ dbSNP | Ensembl ].
VAR_056723
Natural variant8701M → V.
Corresponds to variant rs2255703 [ dbSNP | Ensembl ].
VAR_022144
Natural variant8941H → R. Ref.1 Ref.3
Corresponds to variant rs2625962 [ dbSNP | Ensembl ].
VAR_059558
Natural variant14121L → V.
Corresponds to variant rs2625973 [ dbSNP | Ensembl ].
VAR_056724
Natural variant15421S → N. Ref.1 Ref.3 Ref.5
Corresponds to variant rs2713625 [ dbSNP | Ensembl ].
VAR_061539

Experimental info

Sequence conflict5311G → V in BAA31595. Ref.1
Sequence conflict5311G → V in AAM49063. Ref.3

Secondary structure

...................... 1925
Helix Strand Turn

Details...

Sequences

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

Last modified May 18, 2010. Version 3.
Checksum: 28967933B2D17CE1

FASTA1,925212,007
        10         20         30         40         50         60 
MAPRAAGGAP LSARAAAASP PPFQTPPRCP VPLLLLLLLG AARAGALEIQ RRFPSPTPTN 

        70         80         90        100        110        120 
NFALDGAAGT VYLAAVNRLY QLSGANLSLE AEAAVGPVPD SPLCHAPQLP QASCEHPRRL 

       130        140        150        160        170        180 
TDNYNKILQL DPGQGLVVVC GSIYQGFCQL RRRGNISAVA VRFPPAAPPA EPVTVFPSML 

       190        200        210        220        230        240 
NVAANHPNAS TVGLVLPPAA GAGGSRLLVG ATYTGYGSSF FPRNRSLEDH RFENTPEIAI 

       250        260        270        280        290        300 
RSLDTRGDLA KLFTFDLNPS DDNILKIKQG AKEQHKLGFV SAFLHPSDPP PGAQSYAYLA 

       310        320        330        340        350        360 
LNSEARAGDK ESQARSLLAR ICLPHGAGGD AKKLTESYIQ LGLQCAGGAG RGDLYSRLVS 

       370        380        390        400        410        420 
VFPARERLFA VFERPQGSPA ARAAPAALCA FRFADVRAAI RAARTACFVE PAPDVVAVLD 

       430        440        450        460        470        480 
SVVQGTGPAC ERKLNIQLQP EQLDCGAAHL QHPLSILQPL KATPVFRAPG LTSVAVASVN 

       490        500        510        520        530        540 
NYTAVFLGTV NGRLLKINLN ESMQVVSRRV VTVAYGEPVH HVMQFDPADS GYLYLMTSHQ 

       550        560        570        580        590        600 
MARVKVAACN VHSTCGDCVG AADAYCGWCA LETRCTLQQD CTNSSQQHFW TSASEGPSRC 

       610        620        630        640        650        660 
PAMTVLPSEI DVRQEYPGMI LQISGSLPSL SGMEMACDYG NNIRTVARVP GPAFGHQIAY 

       670        680        690        700        710        720 
CNLLPRDQFP PFPPNQDHVT VEMSVRVNGR NIVKANFTIY DCSRTAQVYP HTACTSCLSA 

       730        740        750        760        770        780 
QWPCFWCSQQ HSCVSNQSRC EASPNPTSPQ DCPRTLLSPL APVPTGGSQN ILVPLANTAF 

       790        800        810        820        830        840 
FQGAALECSF GLEEIFEAVW VNESVVRCDQ VVLHTTRKSQ VFPLSLQLKG RPARFLDSPE 

       850        860        870        880        890        900 
PMTVMVYNCA MGSPDCSQCL GREDLGHLCM WSDGCRLRGP LQPMAGTCPA PEIHAIEPLS 

       910        920        930        940        950        960 
GPLDGGTLLT IRGRNLGRRL SDVAHGVWIG GVACEPLPDR YTVSEEIVCV TGPAPGPLSG 

       970        980        990       1000       1010       1020 
VVTVNASKEG KSRDRFSYVL PLVHSLEPTM GPKAGGTRIT IHGNDLHVGS ELQVLVNDTD 

      1030       1040       1050       1060       1070       1080 
PCTELMRTDT SIACTMPEGA LPAPVPVCVR FERRGCVHGN LTFWYMQNPV ITAISPRRSP 

      1090       1100       1110       1120       1130       1140 
VSGGRTITVA GERFHMVQNV SMAVHHIGRE PTLCKVLNST LITCPSPGAL SNASAPVDFF 

      1150       1160       1170       1180       1190       1200 
INGRAYADEV AVAEELLDPE EAQRGSRFRL DYLPNPQFST AKREKWIKHH PGEPLTLVIH 

      1210       1220       1230       1240       1250       1260 
KEQDSLGLQS HEYRVKIGQV SCDIQIVSDR IIHCSVNESL GAAVGQLPIT IQVGNFNQTI 

      1270       1280       1290       1300       1310       1320 
ATLQLGGSET AIIVSIVICS VLLLLSVVAL FVFCTKSRRA ERYWQKTLLQ MEEMESQIRE 

      1330       1340       1350       1360       1370       1380 
EIRKGFAELQ TDMTDLTKEL NRSQGIPFLE YKHFVTRTFF PKCSSLYEER YVLPSQTLNS 

      1390       1400       1410       1420       1430       1440 
QGSSQAQETH PLLGEWKIPE SCRPNMEEGI SLFSSLLNNK HFLIVFVHAL EQQKDFAVRD 

      1450       1460       1470       1480       1490       1500 
RCSLASLLTI ALHGKLEYYT SIMKELLVDL IDASAAKNPK LMLRRTESVV EKMLTNWMSI 

      1510       1520       1530       1540       1550       1560 
CMYSCLRETV GEPFFLLLCA IKQQINKGSI DAITGKARYT LSEEWLLREN IEAKPRNLNV 

      1570       1580       1590       1600       1610       1620 
SFQGCGMDSL SVRAMDTDTL TQVKEKILEA FCKNVPYSQW PRAEDVDLEW FASSTQSYIL 

      1630       1640       1650       1660       1670       1680 
RDLDDTSVVE DGRKKLNTLA HYKIPEGASL AMSLIDKKDN TLGRVKDLDT EKYFHLVLPT 

      1690       1700       1710       1720       1730       1740 
DELAEPKKSH RQSHRKKVLP EIYLTRLLST KGTLQKFLDD LFKAILSIRE DKPPLAVKYF 

      1750       1760       1770       1780       1790       1800 
FDFLEEQAEK RGISDPDTLH IWKTNSLPLR FWVNILKNPQ FVFDIDKTDH IDACLSVIAQ 

      1810       1820       1830       1840       1850       1860 
AFIDACSISD LQLGKDSPTN KLLYAKEIPE YRKIVQRYYK QIQDMTPLSE QEMNAHLAEE 

      1870       1880       1890       1900       1910       1920 
SRKYQNEFNT NVAMAEIYKY AKRYRPQIMA ALEANPTARR TQLQHKFEQV VALMEDNIYE 


CYSEA 

« Hide

Isoform 2 [UniParc].

Checksum: 4CA3AE813635414A
Show »

FASTA1,785195,558

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-894 AND ASN-1542.
Tissue: Brain.
[2]Ohara O., Suyama M., Nagase T., Ishikawa K.
Submitted (NOV-2010) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis."
van der Zwaag B., Hellemons A.J.C.G.M., Leenders W.P.J., Burbach J.P.H., Brunner H.G., Padberg G.W., Van Bokhoven H.
Dev. Dyn. 225:336-343(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS VARIANT ARG-894 AND ASN-1542.
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] OF 1386-1925 (ISOFORMS 1 AND 2), VARIANT ASN-1542.
Tissue: Muscle and Uterus.
[6]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-500.
Tissue: Plasma.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-500.
Tissue: Liver.
[8]"Semaphorin 3E initiates antiangiogenic signaling through plexin D1 by regulating Arf6 and R-Ras."
Sakurai A., Gavard J., Annas-Linhares Y., Basile J.R., Amornphimoltham P., Palmby T.R., Yagi H., Zhang F., Randazzo P.A., Li X., Weigert R., Gutkind J.S.
Mol. Cell. Biol. 30:3086-3098(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[9]"Crystal structure of the ubiquitin-like domain of plexin D1."
Structural genomics consortium (SGC)
Submitted (MAY-2009) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 1553-1678.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB014520 mRNA. Translation: BAA31595.2. Different initiation.
AY116661 mRNA. Translation: AAM49063.1.
AC023162 Genomic DNA. No translation available.
AC080007 Genomic DNA. No translation available.
BC003526 mRNA. Translation: AAH03526.1.
BC011848 mRNA. Translation: AAH11848.1.
BC150280 mRNA. Translation: AAI50281.1.
CCDSCCDS33854.1. [Q9Y4D7-1]
RefSeqNP_055918.2. NM_015103.2.
UniGeneHs.301685.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3H6NX-ray2.00A1553-1678[»]
ProteinModelPortalQ9Y4D7.
SMRQ9Y4D7. Positions 54-595, 1310-1915.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116747. 2 interactions.
IntActQ9Y4D7. 5 interactions.
MINTMINT-4507885.
STRING9606.ENSP00000317128.

PTM databases

PhosphoSiteQ9Y4D7.

Polymorphism databases

DMDM296452982.

Proteomic databases

MaxQBQ9Y4D7.
PaxDbQ9Y4D7.
PRIDEQ9Y4D7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324093; ENSP00000317128; ENSG00000004399. [Q9Y4D7-1]
ENST00000393239; ENSP00000376931; ENSG00000004399. [Q9Y4D7-2]
GeneID23129.
KEGGhsa:23129.
UCSCuc003emx.2. human. [Q9Y4D7-1]

Organism-specific databases

CTD23129.
GeneCardsGC03M129274.
HGNCHGNC:9107. PLXND1.
HPACAB020819.
MIM604282. gene.
neXtProtNX_Q9Y4D7.
Orphanet3384. Truncus arteriosus.
PharmGKBPA128394602.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG252136.
HOGENOMHOG000231376.
HOVERGENHBG053404.
InParanoidQ9Y4D7.
KOK06822.
OMAKKSHRQS.
OrthoDBEOG7Q8CM9.
PhylomeDBQ9Y4D7.
TreeFamTF312962.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9Y4D7.
BgeeQ9Y4D7.
CleanExHS_PLXND1.
GenevestigatorQ9Y4D7.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
2.60.40.10. 4 hits.
InterProIPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002909. IPT.
IPR016201. Plexin-like_fold.
IPR013548. Plexin_cytoplasmic_RasGAP_dom.
IPR002165. Plexin_repeat.
IPR008936. Rho_GTPase_activation_prot.
IPR001627. Semap_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
[Graphical view]
PfamPF08337. Plexin_cytopl. 1 hit.
PF01437. PSI. 2 hits.
PF01403. Sema. 2 hits.
PF01833. TIG. 3 hits.
[Graphical view]
SMARTSM00429. IPT. 3 hits.
SM00423. PSI. 3 hits.
SM00630. Sema. 1 hit.
[Graphical view]
SUPFAMSSF101912. SSF101912. 1 hit.
SSF103575. SSF103575. 1 hit.
SSF48350. SSF48350. 2 hits.
SSF81296. SSF81296. 3 hits.
PROSITEPS51004. SEMA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPLXND1. human.
EvolutionaryTraceQ9Y4D7.
GeneWikiPLXND1.
GenomeRNAi23129.
NextBio44371.
PROQ9Y4D7.
SOURCESearch...

Entry information

Entry namePLXD1_HUMAN
AccessionPrimary (citable) accession number: Q9Y4D7
Secondary accession number(s): A7E2C6 expand/collapse secondary AC list , C9JPZ6, Q6PJS9, Q8IZJ2, Q9BTQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 119 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM