Seroatlas · Human Serome Atlas

KCNU1

Potassium channel subfamily U member 1

Also known as: KCa5.1, Kcnma3, KCNMC1, KCNU1_HUMAN, Slo3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: A8MYU2
Gene: KCNU1
Ensembl: ENSG00000215262
Chromosome: 8
Canonical length: 1149 aa
Protein class: Human disease related genes, Predicted membrane proteins
Subcellular location: Plasma membrane,Principal piece
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

1149 residues, UniProt reviewed canonical sequence.

>A8MYU2|KCNU1
     1  MFQTKLRNET WEDLPKMSCT TEIQAAFILS SFVTFFSGLI ILLIFRLIWR SVKKWQIIKG
    61  TGIILELFTS GTIARSHVRS LHFQGQFRDH IEMLLSAQTF VGQVLVILVF VLSIGSLIIY
   121  FINSADPVGS CSSYEDKTIP IDLVFNAFFS FYFGLRFMAA DDKIKFWLEM NSIVDIFTIP
   181  PTFISYYLKS NWLGLRFLRA LRLLELPQIL QILRAIKTSN SVKFSKLLSI ILSTWFTAAG
   241  FIHLVENSGD PWLKGRNSQN ISYFESIYLV MATTSTVGFG DVVAKTSLGR TFIMFFTLGS
   301  LILFANYIPE MVELFANKRK YTSSYEALKG KKFIVVCGNI TVDSVTAFLR NFLRDKSGEI
   361  NTEIVFLGET PPSLELETIF KCYLAYTTFI SGSAMKWEDL RRVAVESAEA CLIIANPLCS
   421  DSHAEDISNI MRVLSIKNYD STTRIIIQIL QSHNKVYLPK IPSWNWDTGD NIICFAELKL
   481  GFIAQGCLVP GLCTFLTSLF VEQNKKVMPK QTWKKHFLNS MKNKILTQRL SDDFAGMSFP
   541  EVARLCFLKM HLLLIAIEYK SLFTDGFCGL ILNPPPQVRI RKNTLGFFIA ETPKDVRRAL
   601  FYCSVCHDDV FIPELITNCG CKSRSRQHIT VPSVKRMKKC LKGISSRISG QDSPPRVSAS
   661  TSSISNFTTR TLQHDVEQDS DQLDSSGMFH WCKPTSLDKV TLKRTGKSKY KFRNHIVACV
   721  FGDAHSAPMG LRNFVMPLRA SNYTRKELKD IVFIGSLDYL QREWRFLWNF PQIYILPGCA
   781  LYSGDLHAAN IEQCSMCAVL SPPPQPSSNQ TLVDTEAIMA TLTIGSLQID SSSDPSPSVS
   841  EETPGYTNGH NEKSNCRKVP ILTELKNPSN IHFIEQLGGL EGSLQETNLH LSTAFSTGTV
   901  FSGSFLDSLL ATAFYNYHVL ELLQMLVTGG VSSQLEQHLD KDKVYGVADS CTSLLSGRNR
   961  CKLGLLSLHE TILSDVNPRN TFGQLFCGSL DLFGILCVGL YRIIDEEELN PENKRFVITR
  1021  PANEFKLLPS DLVFCAIPFS TACYKRNEEF SLQKSYEIVN KASQTTETHS DTNCPPTIDS
  1081  VTETLYSPVY SYQPRTNSLS FPKQIAWNQS RTNSIISSQI PLGDNAKENE RKTSDEVYDE
  1141  DPFAYSEPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNU1 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: 7
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 6.5 nTPM

Expression across tissuesHPA

Tissue

testis: 6.5 nTPM
epididymis: 0.3 nTPM
choroid plexus: 0.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM

Single-cell type

early spermatids: 112 nCPM
adipocytes: 107 nCPM
late primary spermatocytes: 65 nCPM
late spermatids: 32 nCPM
epididymal principal cells: 8.6 nCPM
choroid plexus epithelial cells: 6.3 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

pons: 1.1 nTPM
cerebellum: 0.8 nTPM
midbrain: 0.6 nTPM
medulla oblongata: 0.3 nTPM
spinal cord: 0.2 nTPM
white matter: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNU1.

Disease | AllUniProt

Conditions KCNU1 is implicated in, by any mechanism.

Spermatogenic failure 79 (SPGF79) MIM:620196

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 181 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 79

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): 0.81
gnomAD pLI: 0
gnomAD missense Z: 0.01
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

potassium channel activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCNU1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

LRRC52

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNU1 as an antibody target. Whether an autoantibody or antibody against KCNU1 could matter depends on whether native KCNU1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNU1 is annotated at the cell surface, where native KCNU1 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 KCNU1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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