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Protein

Potassium voltage-gated channel subfamily D member 1

Gene

KCND1

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

Functioni

Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi104ZincBy similarity1
Metal bindingi131ZincBy similarity1
Metal bindingi132ZincBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandMetal-binding, Potassium, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels

Protein family/group databases

TCDBi1.A.1.2.28 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily D member 1
Alternative name(s):
Voltage-gated potassium channel subunit Kv4.1
Gene namesi
Name:KCND1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102057.9
HGNCiHGNC:6237 KCND1
MIMi300281 gene
neXtProtiNX_Q9NSA2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 184CytoplasmicSequence analysisAdd BLAST184
Transmembranei185 – 205Helical; Name=Segment S1Sequence analysisAdd BLAST21
Transmembranei227 – 247Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini248 – 261CytoplasmicSequence analysisAdd BLAST14
Transmembranei262 – 282Helical; Name=Segment S3Sequence analysisAdd BLAST21
Transmembranei292 – 312Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini313 – 325CytoplasmicSequence analysisAdd BLAST13
Transmembranei326 – 346Helical; Name=Segment S5Sequence analysisAdd BLAST21
Intramembranei365 – 385Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Transmembranei387 – 407Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini408 – 647CytoplasmicSequence analysisAdd BLAST240

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000102057
PharmGKBiPA30029

Chemistry databases

ChEMBLiCHEMBL2362996
DrugBankiDB06637 Dalfampridine
GuidetoPHARMACOLOGYi552

Polymorphism and mutation databases

BioMutaiKCND1
DMDMi38258256

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540611 – 647Potassium voltage-gated channel subfamily D member 1Add BLAST647

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi352N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi355N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei458PhosphoserineBy similarity1
Modified residuei555PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9NSA2
PeptideAtlasiQ9NSA2
PRIDEiQ9NSA2

PTM databases

iPTMnetiQ9NSA2
PhosphoSitePlusiQ9NSA2

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain.1 Publication

Gene expression databases

BgeeiENSG00000102057
CleanExiHS_KCND1
ExpressionAtlasiQ9NSA2 baseline and differential
GenevisibleiQ9NSA2 HS

Organism-specific databases

HPAiHPA000524
HPA001066

Interactioni

Subunit structurei

Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with DPP10 (Probable).By similarityCurated

Protein-protein interaction databases

STRINGi9606.ENSP00000218176

Structurei

3D structure databases

ProteinModelPortaliQ9NSA2
SMRiQ9NSA2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 20Interaction with KCNIP2By similarityAdd BLAST19
Regioni474 – 489Mediates dendritic targetingBy similarityAdd BLAST16

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi372 – 377Selectivity filterBy similarity6

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4390 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00760000118846
HOGENOMiHOG000231013
HOVERGENiHBG106687
InParanoidiQ9NSA2
KOiK04891
OMAiPLAFFCM
OrthoDBiEOG091G18X0
PhylomeDBiQ9NSA2
TreeFamiTF313103

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003975 K_chnl_volt-dep_Kv4
IPR004054 K_chnl_volt-dep_Kv4.1
IPR024587 K_chnl_volt-dep_Kv4_C
IPR021645 Shal-type_N
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR11537 PTHR11537, 1 hit
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
PF11879 DUF3399, 1 hit
PF00520 Ion_trans, 1 hit
PF11601 Shal-type, 1 hit
PRINTSiPR00169 KCHANNEL
PR01516 KV41CHANNEL
PR01491 KVCHANNEL
PR01497 SHALCHANNEL
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NSA2-1) [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
MAAGLATWLP FARAAAVGWL PLAQQPLPPA PGVKASRGDE VLVVNVSGRR
60 70 80 90 100
FETWKNTLDR YPDTLLGSSE KEFFYDADSG EYFFDRDPDM FRHVLNFYRT
110 120 130 140 150
GRLHCPRQEC IQAFDEELAF YGLVPELVGD CCLEEYRDRK KENAERLAED
160 170 180 190 200
EEAEQAGDGP ALPAGSSLRQ RLWRAFENPH TSTAALVFYY VTGFFIAVSV
210 220 230 240 250
IANVVETIPC RGSARRSSRE QPCGERFPQA FFCMDTACVL IFTGEYLLRL
260 270 280 290 300
FAAPSRCRFL RSVMSLIDVV AILPYYIGLL VPKNDDVSGA FVTLRVFRVF
310 320 330 340 350
RIFKFSRHSQ GLRILGYTLK SCASELGFLL FSLTMAIIIF ATVMFYAEKG
360 370 380 390 400
TNKTNFTSIP AAFWYTIVTM TTLGYGDMVP STIAGKIFGS ICSLSGVLVI
410 420 430 440 450
ALPVPVIVSN FSRIYHQNQR ADKRRAQQKV RLARIRLAKS GTTNAFLQYK
460 470 480 490 500
QNGGLEDSGS GEEQALCVRN RSAFEQQHHH LLHCLEKTTC HEFTDELTFS
510 520 530 540 550
EALGAVSPGG RTSRSTSVSS QPVGPGSLLS SCCPRRAKRR AIRLANSTAS
560 570 580 590 600
VSRGSMQELD MLAGLRRSHA PQSRSSLNAK PHDSLDLNCD SRDFVAAIIS
610 620 630 640
IPTPPANTPD ESQPSSPGGG GRAGSTLRNS SLGTPCLFPE TVKISSL
Length:647
Mass (Da):71,330
Last modified:November 7, 2003 - v2
Checksum:i8672C299CDB7C5AA
GO
Isoform 2 (identifier: Q9NSA2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-377: Missing.

Note: No experimental confirmation available.
Show »
Length:270
Mass (Da):28,860
Checksum:iF81F0635F3FB4D8D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti358S → N in BAA96454 (Ref. 2) Curated1
Sequence conflicti406V → I in BAA96454 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570401 – 377Missing in isoform 2. 1 PublicationAdd BLAST377

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF166003 mRNA Translation: AAF65516.1
AF166006, AF166004, AF166005 Genomic DNA Translation: AAF65617.1
AB021865 mRNA Translation: BAA96454.1
AJ005898 mRNA Translation: CAA06755.1
AK094431 mRNA Translation: BAG52865.1
AK315092 mRNA Translation: BAG37557.1
AF207550 Genomic DNA No translation available.
CH471224 Genomic DNA Translation: EAW50720.1
CH471224 Genomic DNA Translation: EAW50721.1
BC045659 mRNA Translation: AAH45659.1
CCDSiCCDS14314.1 [Q9NSA2-1]
RefSeqiNP_004970.3, NM_004979.5 [Q9NSA2-1]
XP_011542212.1, XM_011543910.2 [Q9NSA2-1]
UniGeneiHs.55276

Genome annotation databases

EnsembliENST00000218176; ENSP00000218176; ENSG00000102057 [Q9NSA2-1]
ENST00000376477; ENSP00000365660; ENSG00000102057 [Q9NSA2-2]
GeneIDi3750
KEGGihsa:3750
UCSCiuc004dlw.1 human [Q9NSA2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKCND1_HUMAN
AccessioniPrimary (citable) accession number: Q9NSA2
Secondary accession number(s): A6NEF1, B2RCG0, O75671
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 7, 2003
Last modified: May 23, 2018
This is version 151 of the entry and version 2 of the sequence. See 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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