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Protein

Ras/Rap GTPase-activating protein SynGAP

Gene

SYNGAP1

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

Functioni

Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

BioCyciZFISH:G66-33046-MONOMER.
ReactomeiR-HSA-5658442. Regulation of RAS by GAPs.
R-HSA-6802949. Signaling by RAS mutants.
R-HSA-8849471. PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases.

Names & Taxonomyi

Protein namesi
Recommended name:
Ras/Rap GTPase-activating protein SynGAP
Alternative name(s):
Neuronal RasGAP
Synaptic Ras GTPase-activating protein 1
Short name:
Synaptic Ras-GAP 1
Gene namesi
Name:SYNGAP1
Synonyms:KIAA1938
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:11497. SYNGAP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 5 (MRD5)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients.
See also OMIM:612621
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069232362W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication1
Natural variantiVAR_069233562P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 PublicationCorresponds to variant rs397514670dbSNPEnsembl.1

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi8831.
MalaCardsiSYNGAP1.
MIMi612621. phenotype.
OpenTargetsiENSG00000197283.
ENSG00000227460.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA36279.

Polymorphism and mutation databases

BioMutaiSYNGAP1.
DMDMi150421676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000566541 – 1343Ras/Rap GTPase-activating protein SynGAPAdd BLAST1343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei34PhosphotyrosineBy similarity1
Modified residuei39PhosphotyrosineBy similarity1
Modified residuei117PhosphoserineBy similarity1
Modified residuei371PhosphoserineBy similarity1
Modified residuei379PhosphoserineBy similarity1
Modified residuei385Phosphoserine; by PLK2By similarity1
Modified residuei449Phosphoserine; by PLK2By similarity1
Modified residuei466Phosphoserine; by PLK2By similarity1
Modified residuei752PhosphoserineBy similarity1
Modified residuei766PhosphoserineBy similarity1
Modified residuei780PhosphoserineBy similarity1
Modified residuei823PhosphoserineBy similarity1
Modified residuei825PhosphoserineBy similarity1
Modified residuei828PhosphothreonineBy similarity1
Modified residuei836Phosphoserine; by PLK2By similarity1
Modified residuei840Phosphoserine; by PLK2By similarity1
Modified residuei842Phosphoserine; by PLK2By similarity1
Modified residuei876PhosphoserineBy similarity1
Modified residuei892PhosphoserineBy similarity1
Modified residuei895Phosphoserine; by PLK2By similarity1
Modified residuei898PhosphoserineBy similarity1
Modified residuei985PhosphoserineBy similarity1
Modified residuei1114PhosphoserineBy similarity1
Modified residuei1118PhosphoserineBy similarity1
Modified residuei1121PhosphoserineBy similarity1
Modified residuei1165PhosphoserineBy similarity1
Modified residuei1204PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96PV0.
PaxDbiQ96PV0.
PeptideAtlasiQ96PV0.
PRIDEiQ96PV0.

PTM databases

iPTMnetiQ96PV0.
PhosphoSitePlusiQ96PV0.
SwissPalmiQ96PV0.

Expressioni

Gene expression databases

BgeeiENSG00000197283.
CleanExiHS_SYNGAP1.
ExpressionAtlasiQ96PV0. baseline and differential.
GenevisibleiQ96PV0. HS.

Organism-specific databases

HPAiHPA038373.
HPA038374.

Interactioni

Subunit structurei

Interacts KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZ.By similarity1 Publication

Protein-protein interaction databases

BioGridi114358. 5 interactors.
IntActiQ96PV0. 9 interactors.
STRINGi9606.ENSP00000403636.

Structurei

3D structure databases

ProteinModelPortaliQ96PV0.
SMRiQ96PV0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini150 – 251PHPROSITE-ProRule annotationAdd BLAST102
Domaini249 – 347C2Add BLAST99
Domaini443 – 635Ras-GAPPROSITE-ProRule annotationAdd BLAST193

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi785 – 815SH3-bindingSequence analysisAdd BLAST31

Domaini

The C2 domain is required for RapGAP activity.By similarity

Sequence similaritiesi

Contains 1 C2 domain.Curated
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 Ras-GAP domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiKOG3508. Eukaryota.
ENOG410XPU1. LUCA.
GeneTreeiENSGT00760000119092.
HOVERGENiHBG006492.
InParanoidiQ96PV0.
KOiK17631.
OMAiRDHPTMA.
OrthoDBiEOG091G00ZZ.
PhylomeDBiQ96PV0.
TreeFamiTF105303.

Family and domain databases

Gene3Di1.10.506.10. 1 hit.
2.20.170.10. 1 hit.
2.30.29.30. 2 hits.
2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021887. DUF3498.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR023152. RasGAP_CS.
IPR001936. RasGAP_dom.
IPR008936. Rho_GTPase_activation_prot.
IPR023315. SynGAP_C2_N.
[Graphical view]
PfamiPF00168. C2. 1 hit.
PF12004. DUF3498. 1 hit.
PF00616. RasGAP. 2 hits.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00233. PH. 1 hit.
SM00323. RasGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q96PV0-1) [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
MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI
60 70 80 90 100
ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY
110 120 130 140 150
HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL
160 170 180 190 200
DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL
210 220 230 240 250
DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV
260 270 280 290 300
KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS
310 320 330 340 350
ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV
360 370 380 390 400
ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV
410 420 430 440 450
RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA
460 470 480 490 500
LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL
510 520 530 540 550
IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA
560 570 580 590 600
LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP
610 620 630 640 650
AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN
660 670 680 690 700
EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL
710 720 730 740 750
PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG
760 770 780 790 800
PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS MDMARLPSPT KEKPPPPPPG
810 820 830 840 850
GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS VSMLDLQGDG
860 870 880 890 900
PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT
910 920 930 940 950
AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG
960 970 980 990 1000
HGPPSSHHHH HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI
1010 1020 1030 1040 1050
LHSHSYSDEF GPSGTDFTRR QLSLQDNLQH MLSPPQITIG PQRPAPSGPG
1060 1070 1080 1090 1100
GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA AQKPRPSSGN LLQSPEPSYG
1110 1120 1130 1140 1150
PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT PSTLNPTMPA
1160 1170 1180 1190 1200
SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE
1210 1220 1230 1240 1250
EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ
1260 1270 1280 1290 1300
QQAEKDSQIK SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP
1310 1320 1330 1340
PLGPTNPRVT LAPPWNGLAP PAPPPPPRLQ ITENGEFRNT ADH
Length:1,343
Mass (Da):148,284
Last modified:June 26, 2007 - v4
Checksum:iD9ABE21054677AA0
GO
Isoform 2 (identifier: Q96PV0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1265-1343: RLMLVEEELR...NGEFRNTADH → SPSLQADAGGGGAAPGPPRHG

Show »
Length:1,285
Mass (Da):141,248
Checksum:iA9353354EF091FD6
GO
Isoform 3 (identifier: Q96PV0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MSRSRASIHR...PVEGRPHGEH → MGLRPPTPSP...RRCSSCCFPG

Show »
Length:1,284
Mass (Da):140,929
Checksum:i73BCEF16133B6D77
GO
Isoform 4 (identifier: Q96PV0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1296-1343: ERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH → LLIR

Show »
Length:1,299
Mass (Da):143,569
Checksum:iAC4DC1FF002B7075
GO

Sequence cautioni

The sequence BAB67831 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065078201D → E.1 PublicationCorresponds to variant rs768682743dbSNPEnsembl.1
Natural variantiVAR_069232362W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication1
Natural variantiVAR_069233562P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 PublicationCorresponds to variant rs397514670dbSNPEnsembl.1
Natural variantiVAR_065079749R → Q.1 Publication1
Natural variantiVAR_065080790T → N.1 PublicationCorresponds to variant rs552867155dbSNPEnsembl.1
Natural variantiVAR_065081991G → R.1 PublicationCorresponds to variant rs145472959dbSNPEnsembl.1
Natural variantiVAR_0650821115I → T.2 PublicationsCorresponds to variant rs191549504dbSNPEnsembl.1
Natural variantiVAR_0650831283P → L.1 Publication1
Natural variantiVAR_0650841310T → M.1 PublicationCorresponds to variant rs796430835dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0263761 – 98MSRSR…PHGEH → MGLRPPTPSPSGGSCSGSLP PPSRCQPLRRRCSSCCFPG in isoform 3. CuratedAdd BLAST98
Alternative sequenceiVSP_0079731265 – 1343RLMLV…NTADH → SPSLQADAGGGGAAPGPPRH G in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0263771296 – 1343ERQLP…NTADH → LLIR in isoform 4. CuratedAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067525 mRNA. Translation: BAB67831.2. Different initiation.
AL021366 Genomic DNA. Translation: CAA16161.1.
AL662799 Genomic DNA. Translation: CAI18276.2.
AL662799 Genomic DNA. Translation: CAM25572.1.
BX088650 Genomic DNA. Translation: CAM26304.1.
BX088650 Genomic DNA. Translation: CAM26305.1.
BX088650 Genomic DNA. Translation: CAM26306.1.
AL713634 mRNA. Translation: CAD28452.1.
CCDSiCCDS34434.2. [Q96PV0-1]
RefSeqiNP_006763.2. NM_006772.2. [Q96PV0-1]
UniGeneiHs.586264.

Genome annotation databases

EnsembliENST00000395071; ENSP00000378509; ENSG00000227460. [Q96PV0-4]
ENST00000414753; ENSP00000407995; ENSG00000227460. [Q96PV0-3]
ENST00000418600; ENSP00000403636; ENSG00000197283. [Q96PV0-2]
ENST00000428982; ENSP00000412475; ENSG00000197283. [Q96PV0-3]
ENST00000455687; ENSP00000414259; ENSG00000227460. [Q96PV0-1]
ENST00000628646; ENSP00000486431; ENSG00000197283. [Q96PV0-4]
ENST00000629380; ENSP00000486463; ENSG00000197283. [Q96PV0-1]
GeneIDi8831.
KEGGihsa:8831.
UCSCiuc010juz.4. human. [Q96PV0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Synaptic Ras GTPase activating protein 1 homolog (rat) (SYNGAP1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067525 mRNA. Translation: BAB67831.2. Different initiation.
AL021366 Genomic DNA. Translation: CAA16161.1.
AL662799 Genomic DNA. Translation: CAI18276.2.
AL662799 Genomic DNA. Translation: CAM25572.1.
BX088650 Genomic DNA. Translation: CAM26304.1.
BX088650 Genomic DNA. Translation: CAM26305.1.
BX088650 Genomic DNA. Translation: CAM26306.1.
AL713634 mRNA. Translation: CAD28452.1.
CCDSiCCDS34434.2. [Q96PV0-1]
RefSeqiNP_006763.2. NM_006772.2. [Q96PV0-1]
UniGeneiHs.586264.

3D structure databases

ProteinModelPortaliQ96PV0.
SMRiQ96PV0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114358. 5 interactors.
IntActiQ96PV0. 9 interactors.
STRINGi9606.ENSP00000403636.

PTM databases

iPTMnetiQ96PV0.
PhosphoSitePlusiQ96PV0.
SwissPalmiQ96PV0.

Polymorphism and mutation databases

BioMutaiSYNGAP1.
DMDMi150421676.

Proteomic databases

MaxQBiQ96PV0.
PaxDbiQ96PV0.
PeptideAtlasiQ96PV0.
PRIDEiQ96PV0.

Protocols and materials databases

DNASUi8831.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395071; ENSP00000378509; ENSG00000227460. [Q96PV0-4]
ENST00000414753; ENSP00000407995; ENSG00000227460. [Q96PV0-3]
ENST00000418600; ENSP00000403636; ENSG00000197283. [Q96PV0-2]
ENST00000428982; ENSP00000412475; ENSG00000197283. [Q96PV0-3]
ENST00000455687; ENSP00000414259; ENSG00000227460. [Q96PV0-1]
ENST00000628646; ENSP00000486431; ENSG00000197283. [Q96PV0-4]
ENST00000629380; ENSP00000486463; ENSG00000197283. [Q96PV0-1]
GeneIDi8831.
KEGGihsa:8831.
UCSCiuc010juz.4. human. [Q96PV0-1]

Organism-specific databases

CTDi8831.
DisGeNETi8831.
GeneCardsiSYNGAP1.
HGNCiHGNC:11497. SYNGAP1.
HPAiHPA038373.
HPA038374.
MalaCardsiSYNGAP1.
MIMi603384. gene.
612621. phenotype.
neXtProtiNX_Q96PV0.
OpenTargetsiENSG00000197283.
ENSG00000227460.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA36279.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3508. Eukaryota.
ENOG410XPU1. LUCA.
GeneTreeiENSGT00760000119092.
HOVERGENiHBG006492.
InParanoidiQ96PV0.
KOiK17631.
OMAiRDHPTMA.
OrthoDBiEOG091G00ZZ.
PhylomeDBiQ96PV0.
TreeFamiTF105303.

Enzyme and pathway databases

BioCyciZFISH:G66-33046-MONOMER.
ReactomeiR-HSA-5658442. Regulation of RAS by GAPs.
R-HSA-6802949. Signaling by RAS mutants.
R-HSA-8849471. PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases.

Miscellaneous databases

GeneWikiiSYNGAP1.
GenomeRNAii8831.
PROiQ96PV0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197283.
CleanExiHS_SYNGAP1.
ExpressionAtlasiQ96PV0. baseline and differential.
GenevisibleiQ96PV0. HS.

Family and domain databases

Gene3Di1.10.506.10. 1 hit.
2.20.170.10. 1 hit.
2.30.29.30. 2 hits.
2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021887. DUF3498.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR023152. RasGAP_CS.
IPR001936. RasGAP_dom.
IPR008936. Rho_GTPase_activation_prot.
IPR023315. SynGAP_C2_N.
[Graphical view]
PfamiPF00168. C2. 1 hit.
PF12004. DUF3498. 1 hit.
PF00616. RasGAP. 2 hits.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00233. PH. 1 hit.
SM00323. RasGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYGP1_HUMAN
AccessioniPrimary (citable) accession number: Q96PV0
Secondary accession number(s): A2AB17
, A2BEL6, A2BEL7, A8MQC4, Q8TCS2, Q9UGE2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: June 26, 2007
Last modified: November 30, 2016
This is version 137 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

Caution

It is uncertain whether Met-1 or Met-16 is the initiator methionine.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.