KCNH4
Voltage-gated delayed rectifier potassium channel KCNH4
Also known as: elk1, KCNH4_HUMAN, Kv12.3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UQ05
- Gene
- KCNH4
- Ensembl
- ENSG00000089558
- Chromosome
- 17
- Canonical length
- 1017 aa
- Protein class
- Predicted membrane proteins, Voltage-gated ion channels
OverviewNCBI Gene
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1017 residues, UniProt reviewed canonical sequence.
>Q9UQ05|KCNH4
1 MPVMKGLLAP QNTFLDTIAT RFDGTHSNFL LANAQGTRGF PIVYCSDGFC ELTGYGRTEV
61 MQKTCSCRFL YGPETSEPAL QRLHKALEGH QEHRAEICFY RKDGSAFWCL LDMMPIKNEM
121 GEVVLFLFSF KDITQSGSPG LGPQGGRGDS NHENSLGRRG ATWKFRSARR RSRTVLHRLT
181 GHFGRRGQGG MKANNNVFEP KPSVPEYKVA SVGGSRCLLL HYSVSKAIWD GLILLATFYV
241 AVTVPYNVCF SGDDDTPITS RHTLVSDIAV EMLFILDIIL NFRTTYVSQS GQVISAPRSI
301 GLHYLATWFF IDLIAALPFD LLYIFNITVT SLVHLLKTVR LLRLLRLLQK LERYSQCSAV
361 VLTLLMSVFA LLAHWMACIW YVIGRREMEA NDPLLWDIGW LHELGKRLEV PYVNGSVGGP
421 SRRSAYIAAL YFTLSSLTSV GFGNVCANTD AEKIFSICTM LIGALMHAVV FGNVTAIIQR
481 MYSRRSLYHS RMKDLKDFIR VHRLPRPLKQ RMLEYFQTTW AVNSGIDANE LLRDFPDELR
541 ADIAMHLNRE ILQLPLFGAA SRGCLRALSL HIKTSFCAPG EYLLRRGDAL QAHYYVCSGS
601 LEVLRDNMVL AILGKGDLIG ADIPEPGQEP GLGADPNFVL KTSADVKALT YCGLQQLSSR
661 GLAEVLRLYP EYGAAFRAGL PRDLTFNLRQ GSDTSGLSRF SRSPRLSQPR SESLGSSSDK
721 TLPSITEAES GAEPGGGPRP RRPLLLPNLS PARPRGSLVS LLGEELPPFS ALVSSPSLSP
781 SLSPALAGQG HSASPHGPPR CSAAWKPPQL LIPPLGTFGP PDLSPRIVDG IEDSGSTAEA
841 PSFRFSRRPE LPRPRSQAPP TGTRPSPELA SEAEEVKEKV CRLNQEISRL NQEVSQLSRE
901 LRHIMGLLQA RLGPPGHPAG SAWTPDPPCP QLRPPCLSPC ASRPPPSLQD TTLAEVHCPA
961 SVGTMETGTA LLDLRPSILP PYPSEPDPLG PSPVPEASPP TPSLLRHSFQ SRSDTFHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNH4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 6.9 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 6.9 nTPM
- cerebral cortex: 2.5 nTPM
- urinary bladder: 1.4 nTPM
- hypothalamus: 0.7 nTPM
- appendix: 0.5 nTPM
- amygdala: 0.4 nTPM
Single-cell type
- brain inhibitory neurons: 36 nCPM
- neutrophils: 7.6 nCPM
- brain excitatory neurons: 6.5 nCPM
- urothelial cells: 5.4 nCPM
- other brain neurons: 4.4 nCPM
- prostatic hillock cells: 4.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 33 nTPM
- cerebral cortex: 9.7 nTPM
- thalamus: 8.5 nTPM
- hypothalamus: 3.9 nTPM
- amygdala: 2.7 nTPM
- white matter: 2.6 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.94
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PAS domain
- Cyclic nucleotide-binding domain
- PAS-associated, C-terminal
- PAC motif
- Potassium channel, voltage-dependent, EAG/ELK/ERG-like
- Potassium channel, voltage-dependent, ELK
- Ion transport domain
- RmlC-like jelly roll fold
- Cyclic nucleotide-binding domain superfamily
- PAS domain superfamily
- Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type
- Ion transport protein
- PAS domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNH4 as an antibody target. Whether an autoantibody or antibody against KCNH4 could matter depends on whether native KCNH4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNH4 is annotated at the cell surface, where native KCNH4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNH4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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