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P48167

- GLRB_HUMAN

UniProt

P48167 - GLRB_HUMAN

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Protein

Glycine receptor subunit beta

Gene

GLRB

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

Functioni

The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).

GO - Molecular functioni

  1. extracellular-glycine-gated chloride channel activity Source: Reactome
  2. extracellular-glycine-gated ion channel activity Source: UniProtKB
  3. glycine binding Source: Ensembl

GO - Biological processi

  1. acrosome reaction Source: Ensembl
  2. adult walking behavior Source: Ensembl
  3. chloride transmembrane transport Source: GOC
  4. ion transmembrane transport Source: Reactome
  5. ion transport Source: UniProtKB
  6. nervous system development Source: UniProtKB
  7. neuropeptide signaling pathway Source: UniProtKB
  8. protein heterooligomerization Source: Ensembl
  9. regulation of membrane potential Source: Ensembl
  10. righting reflex Source: Ensembl
  11. startle response Source: UniProtKB
  12. synaptic transmission Source: UniProtKB
  13. synaptic transmission, glycinergic Source: Ensembl
  14. transmembrane transport Source: Reactome
  15. visual perception Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_25387. Ligand-gated ion channel transport.

Protein family/group databases

TCDBi1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycine receptor subunit beta
Alternative name(s):
Glycine receptor 58 kDa subunit
Gene namesi
Name:GLRB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:4329. GLRB.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
  5. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Hyperekplexia 2 (HKPX2) [MIM:614619]: A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti199 – 1991M → R in HKPX2. 1 Publication
VAR_068246
Natural varianti251 – 2511G → D in HKPX2. 1 Publication
VAR_035070

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614619. phenotype.
Orphaneti3197. Hereditary hyperekplexia.
PharmGKBiPA28730.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222By similarityAdd
BLAST
Chaini23 – 497475Glycine receptor subunit betaPRO_0000000423Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi54 – 541N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi183 ↔ 197By similarity
Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP48167.
PRIDEiP48167.

PTM databases

PhosphoSiteiP48167.

Expressioni

Gene expression databases

BgeeiP48167.
CleanExiHS_GLRB.
ExpressionAtlasiP48167. baseline and differential.
GenevestigatoriP48167.

Organism-specific databases

HPAiHPA052363.

Interactioni

Subunit structurei

Interacts with GPHN By similarity. Pentamer composed of three alpha and two beta subunits.By similarity1 Publication

Protein-protein interaction databases

BioGridi109005. 2 interactions.
STRINGi9606.ENSP00000264428.

Structurei

3D structure databases

ProteinModelPortaliP48167.
SMRiP48167. Positions 60-362.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 265243ExtracellularCuratedAdd
BLAST
Topological domaini355 – 478124CytoplasmicCuratedAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei266 – 29025HelicalCuratedAdd
BLAST
Transmembranei299 – 31618HelicalCuratedAdd
BLAST
Transmembranei331 – 35424HelicalCuratedAdd
BLAST
Transmembranei479 – 49618HelicalCuratedAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG295166.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231336.
HOVERGENiHBG051707.
InParanoidiP48167.
KOiK05196.
OMAiPTMFKCL.
OrthoDBiEOG712TVZ.
PhylomeDBiP48167.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PTHR18945:SF29. PTHR18945:SF29. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 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: P48167-1) [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
MKFLLTTAFL ILISLWVEEA YSKEKSSKKG KGKKKQYLCP SQQSAEDLAR
60 70 80 90 100
VPANSTSNIL NRLLVSYDPR IRPNFKGIPV DVVVNIFINS FGSIQETTMD
110 120 130 140 150
YRVNIFLRQK WNDPRLKLPS DFRGSDALTV DPTMYKCLWK PDLFFANEKS
160 170 180 190 200
ANFHDVTQEN ILLFIFRDGD VLVSMRLSIT LSCPLDLTLF PMDTQRCKMQ
210 220 230 240 250
LESFGYTTDD LRFIWQSGDP VQLEKIALPQ FDIKKEDIEY GNCTKYYKGT
260 270 280 290 300
GYYTCVEVIF TLRRQVGFYM MGVYAPTLLI VVLSWLSFWI NPDASAARVP
310 320 330 340 350
LGIFSVLSLA SECTTLAAEL PKVSYVKALD VWLIACLLFG FASLVEYAVV
360 370 380 390 400
QVMLNNPKRV EAEKARIAKA EQADGKGGNV AKKNTVNGTG TPVHISTLQV
410 420 430 440 450
GETRCKKVCT SKSDLRSNDF SIVGSLPRDF ELSNYDCYGK PIEVNNGLGK
460 470 480 490
SQAKNNKKPP PAKPVIPTAA KRIDLYARAL FPFCFLFFNV IYWSIYL
Length:497
Mass (Da):56,122
Last modified:February 1, 1996 - v1
Checksum:iC1F0B407601D3625
GO
Isoform 2 (identifier: P48167-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     303-303: I → W
     304-497: Missing.

Note: No experimental confirmation available.

Show »
Length:303
Mass (Da):34,944
Checksum:iD1CAB208A3C5B6C3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti199 – 1991M → R in HKPX2. 1 Publication
VAR_068246
Natural varianti251 – 2511G → D in HKPX2. 1 Publication
VAR_035070

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei303 – 3031I → W in isoform 2. 1 PublicationVSP_045466
Alternative sequencei304 – 497194Missing in isoform 2. 1 PublicationVSP_045467Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U33267 mRNA. Translation: AAB37750.1.
AF094754 mRNA. Translation: AAC71033.1.
AF094755 mRNA. Translation: AAC71034.1.
CD013911 mRNA. No translation available.
AK290617 mRNA. Translation: BAF83306.1.
AC079403 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04872.1.
CH471056 Genomic DNA. Translation: EAX04873.1.
BC032635 mRNA. Translation: AAH32635.1.
CCDSiCCDS3796.1. [P48167-1]
CCDS54813.1. [P48167-2]
PIRiG02031.
RefSeqiNP_000815.1. NM_000824.4. [P48167-1]
NP_001159532.1. NM_001166060.1. [P48167-1]
NP_001159533.1. NM_001166061.1. [P48167-2]
UniGeneiHs.32973.

Genome annotation databases

EnsembliENST00000264428; ENSP00000264428; ENSG00000109738. [P48167-1]
ENST00000509282; ENSP00000427186; ENSG00000109738. [P48167-1]
ENST00000541722; ENSP00000441873; ENSG00000109738. [P48167-2]
GeneIDi2743.
KEGGihsa:2743.
UCSCiuc003ipj.2. human. [P48167-1]

Polymorphism databases

DMDMi1346173.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U33267 mRNA. Translation: AAB37750.1 .
AF094754 mRNA. Translation: AAC71033.1 .
AF094755 mRNA. Translation: AAC71034.1 .
CD013911 mRNA. No translation available.
AK290617 mRNA. Translation: BAF83306.1 .
AC079403 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04872.1 .
CH471056 Genomic DNA. Translation: EAX04873.1 .
BC032635 mRNA. Translation: AAH32635.1 .
CCDSi CCDS3796.1. [P48167-1 ]
CCDS54813.1. [P48167-2 ]
PIRi G02031.
RefSeqi NP_000815.1. NM_000824.4. [P48167-1 ]
NP_001159532.1. NM_001166060.1. [P48167-1 ]
NP_001159533.1. NM_001166061.1. [P48167-2 ]
UniGenei Hs.32973.

3D structure databases

ProteinModelPortali P48167.
SMRi P48167. Positions 60-362.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109005. 2 interactions.
STRINGi 9606.ENSP00000264428.

Chemistry

ChEMBLi CHEMBL2363052.
DrugBanki DB00228. Enflurane.
DB00145. Glycine.
DB00431. Lindane.
GuidetoPHARMACOLOGYi 427.

Protein family/group databases

TCDBi 1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSitei P48167.

Polymorphism databases

DMDMi 1346173.

Proteomic databases

PaxDbi P48167.
PRIDEi P48167.

Protocols and materials databases

DNASUi 2743.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264428 ; ENSP00000264428 ; ENSG00000109738 . [P48167-1 ]
ENST00000509282 ; ENSP00000427186 ; ENSG00000109738 . [P48167-1 ]
ENST00000541722 ; ENSP00000441873 ; ENSG00000109738 . [P48167-2 ]
GeneIDi 2743.
KEGGi hsa:2743.
UCSCi uc003ipj.2. human. [P48167-1 ]

Organism-specific databases

CTDi 2743.
GeneCardsi GC04P157997.
GeneReviewsi GLRB.
HGNCi HGNC:4329. GLRB.
HPAi HPA052363.
MIMi 138492. gene.
614619. phenotype.
neXtProti NX_P48167.
Orphaneti 3197. Hereditary hyperekplexia.
PharmGKBi PA28730.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295166.
GeneTreei ENSGT00760000118821.
HOGENOMi HOG000231336.
HOVERGENi HBG051707.
InParanoidi P48167.
KOi K05196.
OMAi PTMFKCL.
OrthoDBi EOG712TVZ.
PhylomeDBi P48167.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_25387. Ligand-gated ion channel transport.

Miscellaneous databases

GeneWikii GLRB.
GenomeRNAii 2743.
NextBioi 10812.
PROi P48167.
SOURCEi Search...

Gene expression databases

Bgeei P48167.
CleanExi HS_GLRB.
ExpressionAtlasi P48167. baseline and differential.
Genevestigatori P48167.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
PTHR18945:SF29. PTHR18945:SF29. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes."
    Handford C.A., Lynch J.W., Baker E., Webb G.C., Ford J.H., Sutherland G.R., Schofield P.R.
    Brain Res. Mol. Brain Res. 35:211-219(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Hippocampus.
  2. "The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism."
    Milani N., Muelhardt C., Weber R.G., Lichter P., Kioschis P., Poustka A., Becker C.-M.
    Genomics 50:341-345(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "PCR isolation and cloning of novel splice variant mRNAs from known drug target genes."
    Jin P., Fu G.K., Wilson A.D., Yang J., Chien D., Hawkins P.R., Au-Young J., Stuve L.L.
    Genomics 83:566-571(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "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] (ISOFORM 1).
    Tissue: Heart.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. 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: Brain.
  8. "Stoichiometry of the human glycine receptor revealed by direct subunit counting."
    Durisic N., Godin A.G., Wever C.M., Heyes C.D., Lakadamyali M., Dent J.A.
    J. Neurosci. 32:12915-12920(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT STOICHIOMETRY.
  9. "Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)."
    Rees M.I., Lewis T.M., Kwok J.B.J., Mortier G.R., Govaert P., Snell R.G., Schofield P.R., Owen M.J.
    Hum. Mol. Genet. 11:853-860(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HKPX2 ASP-251.
  10. Cited for: VARIANT HKPX2 ARG-199.

Entry informationi

Entry nameiGLRB_HUMAN
AccessioniPrimary (citable) accession number: P48167
Secondary accession number(s): A8K3K2, D3DP23, F5GWE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 29, 2014
This is version 143 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. Human chromosome 4
    Human chromosome 4: 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