UniProtKB - P56696 (KCNQ4_HUMAN)
Protein
Potassium voltage-gated channel subfamily KQT member 4
Gene
KCNQ4
Organism
Homo sapiens (Human)
Status
Functioni
Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.
Miscellaneous
Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1:1, to mimic the situation in a heterozygous DFNA2 patient.
GO - Molecular functioni
- calmodulin binding Source: GO_Central
- delayed rectifier potassium channel activity Source: GO_Central
- potassium channel activity Source: ProtInc
- voltage-gated potassium channel activity Source: GO_Central
GO - Biological processi
- inner ear morphogenesis Source: Ensembl
- potassium ion transmembrane transport Source: GO_Central
- potassium ion transport Source: ProtInc
- regulation of ion transmembrane transport Source: UniProtKB-KW
- sensory perception of sound Source: ProtInc
Keywordsi
Molecular function | Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Hearing, Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | P56696 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Protein family/group databases
TCDBi | 1.A.1.15.4, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium voltage-gated channel subfamily KQT member 4Alternative name(s): KQT-like 4 Potassium channel subunit alpha KvLQT4 Voltage-gated potassium channel subunit Kv7.4 |
Gene namesi | Name:KCNQ4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6298, KCNQ4 |
MIMi | 603537, gene |
neXtProti | NX_P56696 |
VEuPathDBi | HostDB:ENSG00000117013.14 |
Subcellular locationi
Plasma membrane
Note: Situated at the basal membrane of cochlear outer hair cells.By similarity
Plasma Membrane
- basal plasma membrane Source: UniProtKB-SubCell
- plasma membrane Source: Reactome
- voltage-gated potassium channel complex Source: GO_Central
Other locations
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 97 | CytoplasmicSequence analysisAdd BLAST | 97 | |
Transmembranei | 98 – 118 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 119 – 131 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 132 – 152 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 153 – 172 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 173 – 193 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 194 – 201 | ExtracellularSequence analysis | 8 | |
Transmembranei | 202 – 224 | Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST | 23 | |
Topological domaini | 225 – 237 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 238 – 258 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 259 – 270 | ExtracellularSequence analysisAdd BLAST | 12 | |
Intramembranei | 271 – 292 | Pore-forming; Name=Segment H5Sequence analysisAdd BLAST | 22 | |
Topological domaini | 293 – 296 | ExtracellularSequence analysis | 4 | |
Transmembranei | 297 – 317 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 318 – 695 | CytoplasmicSequence analysisAdd BLAST | 378 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Deafness, autosomal dominant, 2A (DFNA2A)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010936 | 274 | L → H in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358276EnsemblClinVar. | 1 | |
Natural variantiVAR_008726 | 276 | W → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358277EnsemblClinVar. | 1 | |
Natural variantiVAR_010937 | 281 | L → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358278EnsemblClinVar. | 1 | |
Natural variantiVAR_008727 | 285 | G → C in DFNA2A; loss of potassium selectivity of the pore. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar. | 1 | |
Natural variantiVAR_001547 | 285 | G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar. | 1 | |
Natural variantiVAR_065779 | 287 | G → R in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs137853969EnsemblClinVar. | 1 | |
Natural variantiVAR_008728 | 321 | G → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs28939710EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 123 | E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 124 | H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 125 | Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 126 | E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 194 | Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 196 | N → Q: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 205 | S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 210 | Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 213 | R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 216 | R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 261 | K → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 262 | D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 266 | D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication | 1 | |
Mutagenesisi | 268 | S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 272 | D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 288 | D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication | 1 | |
Mutagenesisi | 290 | T → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 292 | H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 295 | L → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 | |
Mutagenesisi | 298 | V → T: No effect on inhibition by potassium channel toxin SsTX. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 9132 |
GeneReviewsi | KCNQ4 |
MalaCardsi | KCNQ4 |
MIMi | 600101, phenotype |
OpenTargetsi | ENSG00000117013 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA30076 |
Miscellaneous databases
Pharosi | P56696, Tclin |
Chemistry databases
ChEMBLi | CHEMBL3576 |
DrugBanki | DB00228, Enflurane DB04953, Ezogabine DB06089, ICA-105665 DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | P56696 |
GuidetoPHARMACOLOGYi | 563 |
Genetic variation databases
BioMutai | KCNQ4 |
DMDMi | 259016259 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054037 | 1 – 695 | Potassium voltage-gated channel subfamily KQT member 4Add BLAST | 695 |
Proteomic databases
PaxDbi | P56696 |
PeptideAtlasi | P56696 |
PRIDEi | P56696 |
ProteomicsDBi | 56934 [P56696-1] 56935 [P56696-2] |
PTM databases
iPTMneti | P56696 |
PhosphoSitePlusi | P56696 |
Expressioni
Tissue specificityi
Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle.
Gene expression databases
Bgeei | ENSG00000117013, Expressed in pigmented layer of retina and 146 other tissues |
ExpressionAtlasi | P56696, baseline and differential |
Genevisiblei | P56696, HS |
Organism-specific databases
HPAi | ENSG00000117013, Tissue enhanced (pancreas, retina) |
Interactioni
Subunit structurei
Homotetramer. May form heteromultimers with KCNQ3.
Interacts with HSP90AB1; promotes cell surface expression of KCNQ4 (PubMed:23431407).
2 PublicationsGO - Molecular functioni
- calmodulin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 114580, 12 interactors |
CORUMi | P56696 |
STRINGi | 9606.ENSP00000262916 |
Chemistry databases
BindingDBi | P56696 |
Miscellaneous databases
RNActi | P56696, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P56696 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P56696 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 546 – 650 | A-domain (Tetramerization)Add BLAST | 105 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 610 – 645 | Add BLAST | 36 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 283 – 288 | Selectivity filterBy similarity | 6 |
Domaini
The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity
The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region is Four-stranded.1 Publication
Sequence similaritiesi
Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. [View classification]Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1419, Eukaryota |
GeneTreei | ENSGT00940000159209 |
InParanoidi | P56696 |
OMAi | RKFKEML |
PhylomeDBi | P56696 |
TreeFami | TF315186 |
Family and domain databases
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR003937, K_chnl_volt-dep_KCNQ IPR013821, K_chnl_volt-dep_KCNQ_C IPR015573, KCQN4 IPR028325, VG_K_chnl |
PANTHERi | PTHR11537, PTHR11537, 1 hit PTHR11537:SF4, PTHR11537:SF4, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF03520, KCNQ_channel, 1 hit |
PRINTSi | PR01459, KCNQCHANNEL |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P56696-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS
60 70 80 90 100
PLPPGAPLPG PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV
110 120 130 140 150
YHVFIFLLVF SCLVLSVLST IQEHQELANE CLLILEFVMI VVFGLEYIVR
160 170 180 190 200
VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI VFVASVAVIA AGTQGNIFAT
210 220 230 240 250
SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT AWYIGFLVLI
260 270 280 290 300
FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA
310 320 330 340 350
AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW
360 370 380 390 400
RLYSTDMSRA YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR
410 420 430 440 450
RAPVPDGAPS RYPPVATCHR PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG
460 470 480 490 500
PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ KSWSFNDRTR FRASLRLKPR
510 520 530 540 550
TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL KFLVAKRKFK
560 570 580 590 600
ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG
610 620 630 640 650
DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA
660 670 680 690
SLGAVQVPLF DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y6N7 | H0Y6N7_HUMAN | Potassium voltage-gated channel sub... | KCNQ4 | 556 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010936 | 274 | L → H in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358276EnsemblClinVar. | 1 | |
Natural variantiVAR_008726 | 276 | W → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358277EnsemblClinVar. | 1 | |
Natural variantiVAR_010937 | 281 | L → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358278EnsemblClinVar. | 1 | |
Natural variantiVAR_008727 | 285 | G → C in DFNA2A; loss of potassium selectivity of the pore. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar. | 1 | |
Natural variantiVAR_001547 | 285 | G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar. | 1 | |
Natural variantiVAR_065779 | 287 | G → R in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs137853969EnsemblClinVar. | 1 | |
Natural variantiVAR_008728 | 321 | G → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs28939710EnsemblClinVar. | 1 | |
Natural variantiVAR_058971 | 455 | H → Q1 PublicationCorresponds to variant dbSNP:rs34287852EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001013 | 377 – 430 | Missing in isoform 2. 1 PublicationAdd BLAST | 54 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF105202 mRNA Translation: AAD14680.1 AF105216 , AF105203, AF105204, AF105205, AF105206, AF105207, AF105208, AF105209, AF105210, AF105211, AF105212, AF105213, AF105214, AF105215 Genomic DNA Translation: AAD14681.1 AC119677 Genomic DNA No translation available. |
CCDSi | CCDS456.1 [P56696-1] |
RefSeqi | NP_004691.2, NM_004700.3 [P56696-1] NP_751895.1, NM_172163.2 [P56696-2] |
Genome annotation databases
Ensembli | ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1] ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2] |
GeneIDi | 9132 |
KEGGi | hsa:9132 |
UCSCi | uc001cgh.2, human [P56696-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Hereditary hearing loss homepage Gene page |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF105202 mRNA Translation: AAD14680.1 AF105216 , AF105203, AF105204, AF105205, AF105206, AF105207, AF105208, AF105209, AF105210, AF105211, AF105212, AF105213, AF105214, AF105215 Genomic DNA Translation: AAD14681.1 AC119677 Genomic DNA No translation available. |
CCDSi | CCDS456.1 [P56696-1] |
RefSeqi | NP_004691.2, NM_004700.3 [P56696-1] NP_751895.1, NM_172163.2 [P56696-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2OVC | X-ray | 2.07 | A | 610-640 | [»] | |
4GOW | X-ray | 2.60 | A | 522-593 | [»] | |
6N5W | X-ray | 2.15 | A | 336-362 | [»] | |
B | 524-549 | [»] | ||||
SMRi | P56696 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114580, 12 interactors |
CORUMi | P56696 |
STRINGi | 9606.ENSP00000262916 |
Chemistry databases
BindingDBi | P56696 |
ChEMBLi | CHEMBL3576 |
DrugBanki | DB00228, Enflurane DB04953, Ezogabine DB06089, ICA-105665 DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | P56696 |
GuidetoPHARMACOLOGYi | 563 |
Protein family/group databases
TCDBi | 1.A.1.15.4, the voltage-gated ion channel (vic) superfamily |
PTM databases
iPTMneti | P56696 |
PhosphoSitePlusi | P56696 |
Genetic variation databases
BioMutai | KCNQ4 |
DMDMi | 259016259 |
Proteomic databases
PaxDbi | P56696 |
PeptideAtlasi | P56696 |
PRIDEi | P56696 |
ProteomicsDBi | 56934 [P56696-1] 56935 [P56696-2] |
Protocols and materials databases
Antibodypediai | 18036, 344 antibodies |
Genome annotation databases
Ensembli | ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1] ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2] |
GeneIDi | 9132 |
KEGGi | hsa:9132 |
UCSCi | uc001cgh.2, human [P56696-1] |
Organism-specific databases
CTDi | 9132 |
DisGeNETi | 9132 |
GeneCardsi | KCNQ4 |
GeneReviewsi | KCNQ4 |
HGNCi | HGNC:6298, KCNQ4 |
HPAi | ENSG00000117013, Tissue enhanced (pancreas, retina) |
MalaCardsi | KCNQ4 |
MIMi | 600101, phenotype 603537, gene |
neXtProti | NX_P56696 |
OpenTargetsi | ENSG00000117013 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA30076 |
VEuPathDBi | HostDB:ENSG00000117013.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1419, Eukaryota |
GeneTreei | ENSGT00940000159209 |
InParanoidi | P56696 |
OMAi | RKFKEML |
PhylomeDBi | P56696 |
TreeFami | TF315186 |
Enzyme and pathway databases
PathwayCommonsi | P56696 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Miscellaneous databases
BioGRID-ORCSi | 9132, 21 hits in 874 CRISPR screens |
ChiTaRSi | KCNQ4, human |
EvolutionaryTracei | P56696 |
GeneWikii | KCNQ4 |
GenomeRNAii | 9132 |
Pharosi | P56696, Tclin |
PROi | PR:P56696 |
RNActi | P56696, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117013, Expressed in pigmented layer of retina and 146 other tissues |
ExpressionAtlasi | P56696, baseline and differential |
Genevisiblei | P56696, HS |
Family and domain databases
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR003937, K_chnl_volt-dep_KCNQ IPR013821, K_chnl_volt-dep_KCNQ_C IPR015573, KCQN4 IPR028325, VG_K_chnl |
PANTHERi | PTHR11537, PTHR11537, 1 hit PTHR11537:SF4, PTHR11537:SF4, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF03520, KCNQ_channel, 1 hit |
PRINTSi | PR01459, KCNQCHANNEL |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNQ4_HUMAN | |
Accessioni | P56696Primary (citable) accession number: P56696 Secondary accession number(s): O96025 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | September 22, 2009 | |
Last modified: | February 10, 2021 | |
This is version 188 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families