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Q5T6X5

- GPC6A_HUMAN

UniProt

Q5T6X5 - GPC6A_HUMAN

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Protein

G-protein coupled receptor family C group 6 member A

Gene

GPRC6A

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

Functioni

Receptor activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids. The L-alpha amino acids respond is augmented by divalent cations Ca2+ and Mg2+. Activated by extracellular calcium and osteocalin. Seems to act through a G(q)/G(11) and G(i)-coupled pathway. Mediates the non-genomic effects of androgens in multiple tissue. May coordinates nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, divalents ions and its responsiveness to anabolic steroids.2 Publications

GO - Molecular functioni

  1. G-protein coupled receptor activity Source: UniProtKB-KW

GO - Biological processi

  1. calcium-mediated signaling Source: Ensembl
  2. response to amino acid Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_18283. G alpha (q) signalling events.
REACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).

Protein family/group databases

TCDBi9.A.14.7.3. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
G-protein coupled receptor family C group 6 member A
Short name:
hGPRC6A
Alternative name(s):
G-protein coupled receptor GPCR33
Short name:
hGPCR33
Gene namesi
Name:GPRC6A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:18510. GPRC6A.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 594576ExtracellularSequence AnalysisAdd
BLAST
Transmembranei595 – 61521Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini616 – 63116CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei632 – 65221Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini653 – 66917ExtracellularSequence AnalysisAdd
BLAST
Transmembranei670 – 69021Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini691 – 70414CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei705 – 72521Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini726 – 74823ExtracellularSequence AnalysisAdd
BLAST
Transmembranei749 – 76921Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini770 – 78213CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei783 – 80321Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini804 – 8107ExtracellularSequence Analysis
Transmembranei811 – 83121Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini832 – 92695CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell surface Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi149 – 1491S → A: Loss of function. 1 Publication
Mutagenesisi172 – 1721T → A: Loss of function. 1 Publication

Organism-specific databases

PharmGKBiPA38342.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 926908G-protein coupled receptor family C group 6 member APRO_0000043196Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi332 – 3321N-linked (GlcNAc...)Sequence Analysis
Glycosylationi567 – 5671N-linked (GlcNAc...)Sequence Analysis
Glycosylationi590 – 5901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi733 – 7331N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ5T6X5.
PRIDEiQ5T6X5.

PTM databases

PhosphoSiteiQ5T6X5.

Expressioni

Tissue specificityi

Isoform 1 is expressed at high level in brain, skeletal muscle, testis, bone, calvaria, osteoblasts and leukocytes. Expressed at intermediate level in liver, heart, kidney and spleen. Expressed at low level in lung, pancreas, placenta and ovary. Not detected in thymus, prostate, small intestine, tongue and colon. Isoform 1 and isoform 2 are expressed in kidney at the same level. Isoform 2 is expressed at lower level than isoform 1 in the other tissues.1 Publication

Gene expression databases

BgeeiQ5T6X5.
CleanExiHS_GPRC6A.
GenevestigatoriQ5T6X5.

Organism-specific databases

HPAiHPA038428.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000309493.

Structurei

3D structure databases

ProteinModelPortaliQ5T6X5.
SMRiQ5T6X5. Positions 34-483, 584-844.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG295353.
GeneTreeiENSGT00760000118884.
HOGENOMiHOG000063697.
HOVERGENiHBG096042.
InParanoidiQ5T6X5.
KOiK04622.
OMAiETHWAPV.
OrthoDBiEOG7DZ8J8.
PhylomeDBiQ5T6X5.
TreeFamiTF331269.

Family and domain databases

InterProiIPR001828. ANF_lig-bd_rcpt.
IPR000337. GPCR_3.
IPR011500. GPCR_3_9-Cys_dom.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR028082. Peripla_BP_I.
[Graphical view]
PfamiPF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view]
PRINTSiPR00248. GPCRMGR.
SUPFAMiSSF53822. SSF53822. 1 hit.
PROSITEiPS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5T6X5-1) [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
MAFLIILITC FVIILATSQP CQTPDDFVAA TSPGHIIIGG LFAIHEKMLS
60 70 80 90 100
SEDSPRRPQI QECVGFEISV FLQTLAMIHS IEMINNSTLL PGVKLGYEIY
110 120 130 140 150
DTCTEVTVAM AATLRFLSKF NCSRETVEFK CDYSSYMPRV KAVIGSGYSE
160 170 180 190 200
ITMAVSRMLN LQLMPQVGYE STAEILSDKI RFPSFLRTVP SDFHQIKAMA
210 220 230 240 250
HLIQKSGWNW IGIITTDDDY GRLALNTFII QAEANNVCIA FKEVLPAFLS
260 270 280 290 300
DNTIEVRINR TLKKIILEAQ VNVIVVFLRQ FHVFDLFNKA IEMNINKMWI
310 320 330 340 350
ASDNWSTATK ITTIPNVKKI GKVVGFAFRR GNISSFHSFL QNLHLLPSDS
360 370 380 390 400
HKLLHEYAMH LSACAYVKDT DLSQCIFNHS QRTLAYKANK AIERNFVMRN
410 420 430 440 450
DFLWDYAEPG LIHSIQLAVF ALGYAIRDLC QARDCQNPNA FQPWELLGVL
460 470 480 490 500
KNVTFTDGWN SFHFDAHGDL NTGYDVVLWK EINGHMTVTK MAEYDLQNDV
510 520 530 540 550
FIIPDQETKN EFRNLKQIQS KCSKECSPGQ MKKTTRSQHI CCYECQNCPE
560 570 580 590 600
NHYTNQTDMP HCLLCNNKTH WAPVRSTMCF EKEVEYLNWN DSLAILLLIL
610 620 630 640 650
SLLGIIFVLV VGIIFTRNLN TPVVKSSGGL RVCYVILLCH FLNFASTSFF
660 670 680 690 700
IGEPQDFTCK TRQTMFGVSF TLCISCILTK SLKILLAFSF DPKLQKFLKC
710 720 730 740 750
LYRPILIIFT CTGIQVVICT LWLIFAAPTV EVNVSLPRVI ILECEEGSIL
760 770 780 790 800
AFGTMLGYIA ILAFICFIFA FKGKYENYNE AKFITFGMLI YFIAWITFIP
810 820 830 840 850
IYATTFGKYV PAVEIIVILI SNYGILYCTF IPKCYVIICK QEINTKSAFL
860 870 880 890 900
KMIYSYSSHS VSSIALSPAS LDSMSGNVTM TNPSSSGKSA TWQKSKDLQA
910 920
QAFAHICREN ATSVSKTLPR KRMSSI

Note: Major isoform.

Length:926
Mass (Da):104,753
Last modified:December 21, 2004 - v1
Checksum:i2019C884FF092EEF
GO
Isoform 2 (identifier: Q5T6X5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     271-445: Missing.

Show »
Length:751
Mass (Da):84,565
Checksum:i0A5019AAB24393D8
GO
Isoform 3 (identifier: Q5T6X5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-516: Missing.

Show »
Length:855
Mass (Da):96,526
Checksum:i0C93431762234E38
GO

Sequence cautioni

The sequence BAC05904.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911P → S.2 Publications
Corresponds to variant rs2274911 [ dbSNP | Ensembl ].
VAR_023966
Natural varianti144 – 1441I → R.
Corresponds to variant rs28360548 [ dbSNP | Ensembl ].
VAR_049283
Natural varianti599 – 5991I → T.
Corresponds to variant rs35937022 [ dbSNP | Ensembl ].
VAR_061203

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei271 – 445175Missing in isoform 2. 1 PublicationVSP_016454Add
BLAST
Alternative sequencei446 – 51671Missing in isoform 3. 1 PublicationVSP_016455Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY435125 mRNA. Translation: AAS13465.1.
AY435126 mRNA. Translation: AAS13466.1.
AY435127 mRNA. Translation: AAS13467.1.
AF502962 mRNA. Translation: AAM22230.1.
AL354716 Genomic DNA. Translation: CAI16922.1.
AB065680 Genomic DNA. Translation: BAC05904.1. Sequence problems.
AB083615 Genomic DNA. Translation: BAB89328.1.
CCDSiCCDS5112.1. [Q5T6X5-1]
CCDS69184.1. [Q5T6X5-3]
CCDS69185.1. [Q5T6X5-2]
RefSeqiNP_001273283.1. NM_001286354.1. [Q5T6X5-2]
NP_001273284.1. NM_001286355.1. [Q5T6X5-3]
NP_683766.2. NM_148963.3. [Q5T6X5-1]
UniGeneiHs.266745.

Genome annotation databases

EnsembliENST00000310357; ENSP00000309493; ENSG00000173612. [Q5T6X5-1]
ENST00000368549; ENSP00000357537; ENSG00000173612. [Q5T6X5-3]
ENST00000530250; ENSP00000433465; ENSG00000173612. [Q5T6X5-2]
GeneIDi222545.
KEGGihsa:222545.
UCSCiuc003pxj.1. human. [Q5T6X5-1]
uc003pxk.1. human. [Q5T6X5-2]
uc003pxl.1. human. [Q5T6X5-3]

Polymorphism databases

DMDMi74745292.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY435125 mRNA. Translation: AAS13465.1 .
AY435126 mRNA. Translation: AAS13466.1 .
AY435127 mRNA. Translation: AAS13467.1 .
AF502962 mRNA. Translation: AAM22230.1 .
AL354716 Genomic DNA. Translation: CAI16922.1 .
AB065680 Genomic DNA. Translation: BAC05904.1 . Sequence problems.
AB083615 Genomic DNA. Translation: BAB89328.1 .
CCDSi CCDS5112.1. [Q5T6X5-1 ]
CCDS69184.1. [Q5T6X5-3 ]
CCDS69185.1. [Q5T6X5-2 ]
RefSeqi NP_001273283.1. NM_001286354.1. [Q5T6X5-2 ]
NP_001273284.1. NM_001286355.1. [Q5T6X5-3 ]
NP_683766.2. NM_148963.3. [Q5T6X5-1 ]
UniGenei Hs.266745.

3D structure databases

ProteinModelPortali Q5T6X5.
SMRi Q5T6X5. Positions 34-483, 584-844.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000309493.

Chemistry

GuidetoPHARMACOLOGYi 55.

Protein family/group databases

TCDBi 9.A.14.7.3. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei Q5T6X5.

Polymorphism databases

DMDMi 74745292.

Proteomic databases

PaxDbi Q5T6X5.
PRIDEi Q5T6X5.

Protocols and materials databases

DNASUi 222545.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310357 ; ENSP00000309493 ; ENSG00000173612 . [Q5T6X5-1 ]
ENST00000368549 ; ENSP00000357537 ; ENSG00000173612 . [Q5T6X5-3 ]
ENST00000530250 ; ENSP00000433465 ; ENSG00000173612 . [Q5T6X5-2 ]
GeneIDi 222545.
KEGGi hsa:222545.
UCSCi uc003pxj.1. human. [Q5T6X5-1 ]
uc003pxk.1. human. [Q5T6X5-2 ]
uc003pxl.1. human. [Q5T6X5-3 ]

Organism-specific databases

CTDi 222545.
GeneCardsi GC06M117158.
H-InvDB HIX0032801.
HGNCi HGNC:18510. GPRC6A.
HPAi HPA038428.
MIMi 613572. gene.
neXtProti NX_Q5T6X5.
PharmGKBi PA38342.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295353.
GeneTreei ENSGT00760000118884.
HOGENOMi HOG000063697.
HOVERGENi HBG096042.
InParanoidi Q5T6X5.
KOi K04622.
OMAi ETHWAPV.
OrthoDBi EOG7DZ8J8.
PhylomeDBi Q5T6X5.
TreeFami TF331269.

Enzyme and pathway databases

Reactomei REACT_18283. G alpha (q) signalling events.
REACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).

Miscellaneous databases

GeneWikii GPRC6A.
GenomeRNAii 222545.
NextBioi 91619.
PROi Q5T6X5.
SOURCEi Search...

Gene expression databases

Bgeei Q5T6X5.
CleanExi HS_GPRC6A.
Genevestigatori Q5T6X5.

Family and domain databases

InterProi IPR001828. ANF_lig-bd_rcpt.
IPR000337. GPCR_3.
IPR011500. GPCR_3_9-Cys_dom.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR028082. Peripla_BP_I.
[Graphical view ]
Pfami PF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view ]
PRINTSi PR00248. GPCRMGR.
SUPFAMi SSF53822. SSF53822. 1 hit.
PROSITEi PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptor."
    Wellendorph P., Braeuner-Osborne H.
    Gene 335:37-46(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY, VARIANT SER-91.
    Tissue: Kidney.
  2. "Cloning of a metabotropic glutamate/pheromone receptor (GPRC6A)."
    Lorenz-Depiereux B., Dorner M., Strom T.M.
    Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-91.
    Tissue: Kidney.
  3. "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.
    , 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].
  4. "Genome-wide discovery and analysis of human seven transmembrane helix receptor genes."
    Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-926.
  5. "Identification of G protein-coupled receptor genes from the human genome sequence."
    Takeda S., Kadowaki S., Haga T., Takaesu H., Mitaku S.
    FEBS Lett. 520:97-101(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 559-926.
  6. "Deorphanization of GPRC6A: a promiscuous L-alpha-amino acid receptor with preference for basic amino acids."
    Wellendorph P., Hansen K.B., Balsgaard A., Greenwood J.R., Egebjerg J., Brauener-Osborne H.
    Mol. Pharmacol. 67:589-597(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF SER-149 AND THR-172.
  7. "GPRC6A mediates the non-genomic effects of steroids."
    Pi M., Parrill A.L., Quarles L.D.
    J. Biol. Chem. 285:39953-39964(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiGPC6A_HUMAN
AccessioniPrimary (citable) accession number: Q5T6X5
Secondary accession number(s): Q6JK43
, Q6JK44, Q8NGU8, Q8NHZ9, Q8TDT6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 21, 2004
Last modified: October 29, 2014
This is version 96 of the entry and version 1 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. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3