Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P23415 (GLRA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 158. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycine receptor subunit alpha-1
Alternative name(s):
Glycine receptor 48 kDa subunit
Glycine receptor strychnine-binding subunit
Gene names
Name:GLRA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length457 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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).

Subunit structure

Pentamer composed of three alpha and two beta subunits. Homopentamers of alpha subunits also form functional receptors. Ref.6

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

Hyperekplexia 1 (HKPX1) [MIM:149400]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19

Miscellaneous

The alpha subunit binds strychnine.

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processacrosome reaction

Inferred from electronic annotation. Source: Ensembl

action potential

Inferred from electronic annotation. Source: Ensembl

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

chloride transmembrane transport

Inferred from direct assay Ref.1PubMed 8137830. Source: GOC

chloride transport

Inferred from direct assay PubMed 8137830. Source: UniProtKB

ion transmembrane transport

Traceable author statement. Source: Reactome

ion transport

Inferred from direct assay Ref.1. Source: UniProtKB

muscle contraction

Inferred from mutant phenotype PubMed 11973623. Source: UniProtKB

negative regulation of transmission of nerve impulse

Inferred from mutant phenotype PubMed 11973623. Source: UniProtKB

neuromuscular process controlling posture

Inferred from electronic annotation. Source: Ensembl

neuropeptide signaling pathway

Inferred from direct assay Ref.1. Source: UniProtKB

positive regulation of acrosome reaction

Inferred from mutant phenotype PubMed 11751269. Source: UniProtKB

regulation of inhibitory postsynaptic membrane potential

Inferred from electronic annotation. Source: Ensembl

regulation of membrane potential

Inferred from mutant phenotype PubMed 7920629. Source: MGI

regulation of respiratory gaseous exchange by neurological system process

Inferred from electronic annotation. Source: Ensembl

righting reflex

Inferred from electronic annotation. Source: Ensembl

startle response

Inferred from mutant phenotype PubMed 11973623Ref.9. Source: UniProtKB

synaptic transmission, glycinergic

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

visual perception

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

chloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

external side of plasma membrane

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Non-traceable author statement Ref.8. Source: UniProtKB

integral component of plasma membrane

Inferred from direct assay PubMed 7506679. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay PubMed 7506679. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionextracellular-glycine-gated chloride channel activity

Inferred from direct assay Ref.1PubMed 8137830. Source: UniProtKB

glycine binding

Inferred from direct assay PubMed 15748848Ref.1. Source: UniProtKB

taurine binding

Inferred from direct assay PubMed 15748848. Source: UniProtKB

transmitter-gated ion channel activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform a (identifier: P23415-1)

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 b (identifier: P23415-2)

The sequence of this isoform differs from the canonical sequence as follows:
     354-361: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 457429Glycine receptor subunit alpha-1
PRO_0000000412

Regions

Topological domain29 – 247219Extracellular Probable
Transmembrane248 – 27427Helical; Probable
Transmembrane281 – 29818Helical; Probable
Transmembrane313 – 33624Helical; Probable
Topological domain337 – 42892Cytoplasmic Probable
Transmembrane429 – 44618Helical; Probable
Region225 – 2306Strychnine-binding By similarity

Amino acid modifications

Glycosylation661N-linked (GlcNAc...) Probable
Disulfide bond166 ↔ 180 Ref.5
Disulfide bond226 ↔ 237 Ref.5

Natural variations

Alternative sequence354 – 3618Missing in isoform b.
VSP_021142
Natural variant2721I → N in HKPX1. Ref.13
VAR_000296
Natural variant2781P → T in HKPX1. Ref.19
VAR_010112
Natural variant2801R → H in HKPX1. Ref.18
VAR_010113
Natural variant2941Q → H in HKPX1. Ref.15
VAR_000297
Natural variant2991R → L in HKPX1; decreased potency of glycine to activate the channel. Ref.9 Ref.11 Ref.12
VAR_000298
Natural variant2991R → Q in HKPX1; decreased potency of glycine to activate the channel. Ref.9 Ref.11
VAR_000299
Natural variant3041K → E in HKPX1. Ref.16 Ref.17
VAR_000300
Natural variant3071Y → C in HKPX1. Ref.10 Ref.14
VAR_000301
Natural variant4281R → H in HKPX1. Ref.18
VAR_010114

Experimental info

Sequence conflict12 – 143WET → SGA in CAA36258. Ref.1
Sequence conflict331P → T in CAA36258. Ref.1

Secondary structure

.................... 457
Helix Strand Turn

Details...

Sequences

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

Last modified October 17, 2006. Version 2.
Checksum: 5ED80AF62B06A3AA

FASTA45752,624
        10         20         30         40         50         60 
MYSFNTLRLY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS GYDARIRPNF 

        70         80         90        100        110        120 
KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR LAYNEYPDDS LDLDPSMLDS 

       130        140        150        160        170        180 
IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC 

       190        200        210        220        230        240 
IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA 

       250        260        270        280        290        300 
RFHLERQMGY YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA 

       310        320        330        340        350        360 
SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR HHKSPMLNLF 

       370        380        390        400        410        420 
QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN PPPAPSKSPE EMRKLFIQRA 

       430        440        450 
KKIDKISRIG FPMAFLIFNM FYWIIYKIVR REDVHNQ 

« Hide

Isoform b [UniParc].

Checksum: 8F6EEB28634E2A94
Show »

FASTA44951,693

References

« Hide 'large scale' references
[1]"Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes."
Grenningloh G., Schmieden V., Schofield P.R., Seeburg P.H., Siddique T., Mohandas T.K., Becker C.-M., Betz H.
EMBO J. 9:771-776(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
[2]"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] (ISOFORM B).
[3]Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORMS A AND B).
[5]"Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor."
Vogel N., Kluck C.J., Melzer N., Schwarzinger S., Breitinger U., Seeber S., Becker C.M.
J. Biol. Chem. 284:36128-36136(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: DISULFIDE BONDS.
[6]"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.
[7]"NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit."
Yushmanov V.E., Mandal P.K., Liu Z., Tang P., Xu Y.
Biochemistry 42:3989-3995(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 277-304.
[8]"Structure and dynamics of the second and third transmembrane domains of human glycine receptor."
Ma D., Liu Z., Li L., Tang P., Xu Y.
Biochemistry 44:8790-8800(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 278-337.
[9]"Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia."
Shiang R., Ryan S.G., Zhu Y.-Z., Hahn A.F., O'Connell P., Wasmuth J.J.
Nat. Genet. 5:351-357(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HKPX1 LEU-299 AND GLN-299.
[10]"Mutational and haplotype analysis of the aplha1 subunit of the glycine receptor in hyperekplexia patients."
Shiang R., Ryan S.G., Zhu Y.-Z., O'Connell P., Wasmuth J.J.
Am. J. Hum. Genet. 55:A242-A242(1994)
Cited for: VARIANT HKPX1 CYS-307.
[11]"Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia."
Langosch D., Laube B., Runstroem N., Schmieden V., Bormann J., Betz H.
EMBO J. 13:4223-4228(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS HKPX1 LEU-299 AND GLN-299.
[12]"An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene."
Schorderet D.F., Pescia G., Bernasconi A., Regli F.
Hum. Mol. Genet. 3:1201-1201(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 LEU-299.
[13]"Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor."
Rees M.I., Andrew M., Jawad S., Owen M.J.
Hum. Mol. Genet. 3:2175-2179(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 ASN-272.
[14]"Mutational analysis of familial and sporadic hyperekplexia."
Shiang R., Ryan S.G., Zhu Y.-Z., Fielder T.J., Allen R.J., Fryer A., Yamashita S., O'Connell P., Wasmuth J.J.
Ann. Neurol. 38:85-91(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 CYS-307.
[15]"A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia."
Milani N., Dalpra L., del Prete A., Zanini R., Larizza L.
Am. J. Hum. Genet. 58:420-422(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 HIS-294.
[16]"Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis."
Elmslie F.V., Hutchings S.M., Spencer V., Curtis A., Covanis T., Gardiner R.M., Rees M.
J. Med. Genet. 33:435-436(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 GLU-304.
[17]"Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor."
Seri M., Bolino A., Galietta L.J.V., Lerone M., Silengo M., Romeo G.
Hum. Mutat. 9:185-187(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 GLU-304.
[18]"Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations."
Vergouwe M.N., Tijssen M.A., Peters A.C., Wielaard R., Frants R.R.
Ann. Neurol. 46:634-638(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HKPX1 HIS-280 AND HIS-428.
[19]"Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating."
Saul B., Kuner T., Sobetzko D., Brune W., Hanefeld F., Meinck H.-M., Becker C.-M.
J. Neurosci. 19:869-877(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX1 THR-278.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X52009 mRNA. Translation: CAA36258.1.
AK312702 mRNA. Translation: BAG35580.1.
CH471062 Genomic DNA. Translation: EAW61657.1.
BC074980 mRNA. Translation: AAH74980.1.
BC114947 mRNA. Translation: AAI14948.1.
PIRS12382.
RefSeqNP_000162.2. NM_000171.3.
NP_001139512.1. NM_001146040.1.
UniGeneHs.121490.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1MOTNMR-A277-304[»]
1VRYNMR-A278-337[»]
2M6BNMR-A244-455[»]
2M6INMR-A/B/C/D/E244-455[»]
ProteinModelPortalP23415.
SMRP23415. Positions 37-456.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-48768N.
STRING9606.ENSP00000274576.

Chemistry

BindingDBP23415.
ChEMBLCHEMBL2363052.
DrugBankDB01189. Desflurane.
DB00228. Enflurane.
DB00898. Ethanol.
DB00145. Glycine.
DB01159. Halothane.
DB00753. Isoflurane.
DB01028. Methoxyflurane.
DB01236. Sevoflurane.
GuidetoPHARMACOLOGY423.

Protein family/group databases

TCDB1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteP23415.

Polymorphism databases

DMDM116242495.

Proteomic databases

PaxDbP23415.
PRIDEP23415.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000274576; ENSP00000274576; ENSG00000145888. [P23415-2]
ENST00000455880; ENSP00000411593; ENSG00000145888. [P23415-1]
GeneID2741.
KEGGhsa:2741.
UCSCuc003lur.3. human. [P23415-2]
uc003lut.3. human. [P23415-1]

Organism-specific databases

CTD2741.
GeneCardsGC05M151182.
HGNCHGNC:4326. GLRA1.
HPAHPA016502.
MIM138491. gene.
149400. phenotype.
neXtProtNX_P23415.
Orphanet3197. Hereditary hyperekplexia.
PharmGKBPA28727.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG265706.
HOGENOMHOG000231336.
HOVERGENHBG051707.
InParanoidP23415.
KOK05193.
OMANTANPVP.
OrthoDBEOG712TVZ.
PhylomeDBP23415.
TreeFamTF315453.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP23415.
BgeeP23415.
CleanExHS_GLRA1.
GenevestigatorP23415.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA_rcpt.
IPR008127. Glycine_rcpt_A.
IPR008128. Glycine_rcpt_A1.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSPR00253. GABAARECEPTR.
PR01673. GLYRALPHA.
PR01674. GLYRALPHA1.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP23415.
GeneWikiGlycine_receptor,_alpha_1.
GenomeRNAi2741.
NextBio10804.
PROP23415.
SOURCESearch...

Entry information

Entry nameGLRA1_HUMAN
AccessionPrimary (citable) accession number: P23415
Secondary accession number(s): B2R6T3, Q14C77, Q6DJV9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 158 of the entry and version 2 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 5

Human chromosome 5: entries, gene names and cross-references to MIM